Crack the core WHen I Say you say... Flashcards

Question

shaggy or plaque-like esophagus

Answer 1

candidiasis

Answer 2

glycogen acanthosis

Answer 3

Zenker diverticulum

Answer 4

feline esophagus

Answer 5

CMV or AIDS

Answer 6

medication-induced

Answer 7

Cowdens \ Cowden syndrome Dr Bahman Rasuli◉ and Dr Yuranga Weerakkody◉ et al. Cowden syndrome, also known as multiple hamartoma syndrome, is characterised by multiple hamartomas throughout the body and increased risk of several cancers. Terminology Type 2 segmental Cowden syndrome is the association of Cowden syndrome with a Cowden naevus when it is considered a type of epidermal naevus syndrome. Pathology The disease is characterised by: mucocutaneous lesions: present in \>90% of cases trichilemmomas mucocutaneous papillomatous papules gastrointestinal hamartomatous polyps (small and large bowel) glycogenic acanthosis thyroid abnormalities thyroid adenomas multinodular goitre fibrocystic disease of the breast In addition to benign hamartoma formation, the syndrome carries a recognised increased risk of cancers 1 such as: breast cancer: develops in 30-50% of those with the syndrome thyroid cancer: develops in 5% of those with the syndrome, usually follicular CNS: dysplastic cerebellar gangliocytoma, occurs when in association with Lhermitte-Duclos disease (LDD) Syndromic associations Cowden syndrome is part of a group of disease known as PTEN-related diseases, which also includes: Lhermitte-Duclos disease (LDD) Bannayan-Riley-Ruvalcaba syndrome (BRRS) 3 Genetics It carries an autosomal dominant inheritance with variable penetrance. A gene locus for the disease has been identified on chromosome 10q22-23, a mutation of the PTEN gene. History and etymology First described in 1963 by K M Lloyd and M Dennis with the surname of their first patient: Cowden 2.

Answer 8

Gardners Gardner syndrome Dr Francis Deng◉ and Assoc Prof Frank Gaillard◉◈ et al. Gardner syndrome is one of the polyposis syndromes. It is characterised by: familial adenopolyposis multiple osteomas: especially of the mandible, skull, and long bones epidermal cysts fibromatoses desmoid tumours of mesentery and anterior abdominal wall Other abnormalities include: supernumerary teeth and odontomas 4 duodenal tumours / ampullary carcinoma 2,3 papillary thyroid carcinoma Pathology There is an autosomal dominant inheritance in the FAP gene (chromosome 5q) in a majority of patients but with 20% of cases resulting from new mutations. Extracolonic features often precede the diagnosis of colonic polyps.

Answer 9

Turcots Turcot syndrome Dr Ammar Haouimi◉ and Assoc Prof Frank Gaillard◉◈ et al. Turcot syndrome is one of the variations in polyposis syndromes. It is characterised by multiple colonic polyps and an increased risk of colon and primary brain cancers. Epidemiology Turcot syndrome is a rare disease. Patients typically present in the second decade 3. Pathology Turcot syndrome is characterised by: intestinal polyposis CNS tumours: most commonly glioblastoma or medulloblastoma Genetics It is thought to carry an autosomal recessive inheritance. Two-thirds of patients have mutations in the APC gene, the same genetic defect as in familial adenomatous polyposis (FAP). These patients have multiple colonic adenomas, and virtually all develop colorectal carcinoma by the age of 40. The common intracranial tumour in this subtype is medulloblastoma. The other third have mutations in the HNPCC genes. Colonic malignancy is not as common in this type but tends to develop at a younger age. Most develop glioblastomas. History and etymology It is named after Jacques Turcot (1915 - 1977) 5, Canadian surgeon.

Answer 10

Virchow node (GI cancer)

Answer 11

gastric lymphoma

Answer 12

splenic vein thrombus

Answer 13

chronic aspirin therapy

Answer 14

Zollinger-Ellison

Answer 15

afferent loop syndrome Afferent loop syndrome Dr Tom Foster◉ and Dr Matt A. Morgan◉ et al. Afferent loop syndrome is an intermittent partial or complete mechanical obstruction of the afferent limb of a gastrojejunostomy. The syndrome classically refers to obstruction of the upstream limb of a side-to-side gastrojejunostomy but has also been used to refer to the biliopancreatic limb of a Roux-en-Y gastrojejunostomy. It can be seen after: partial gastrectomy Billroth II gastrojejunostomy gastric bypass Roux-en-Y gastric bypass pancreaticoduodenectomy Epidemiology Afferent loop syndrome is not an uncommon postoperative complication, and one study has estimated that it occurs in 13% of post-pancreaticoduodenectomy patients 2. Afferent limb syndromes have decreased in incidence with newer surgical techniques to decrease the size of the limb. Clinical presentation Patients usually present with epigastric pain, abdominal distention, nausea, and potentially bilious vomiting. It has been classified as acute (\<7 days postoperative) or chronic (\>7 days postoperative). Bilious vomiting is presumed to occur from regurgitation of bilious contents in the afferent limb into the stomach after release from intermittent obstruction. Pathology Possible causes of afferent loop syndrome include kinking at the anastomosis, radiation stricture, internal hernia, or recurrent tumour at the anastomosis. Radiographic features Abdominal radiograph dilated bowel in the right upper quadrant no dilated bowel may be present, and a high clinical suspicion should be maintained in the appropriate setting Fluoroscopy non-opacification of the afferent loop on an upper GI study possible delayed filling of an enlarged afferent loop CT "U-shaped" loop of bowel, adjacent to the pancreas, usually containing water attenuation fluid common bile duct should enter into the loop possible gallbladder and biliary dilatation Treatment and prognosis Both transhepatic and transgastric approaches to relieve the obstruction have been used. An open procedure is also possible but second line. Practical points there is some differing use of the term "afferent limb" in the literature and depending on the type of surgery in some sources, "afferent limb" is used to refer to stump of small bowel upstream from the Roux limb; some sources use it to refer to the biliopancreatic limb; always check the context to understand the function of the "afferent limb"

Answer 16

gastro-gastro fistula

Answer 17

healed peptic ulcer Cloverleaf duodenum Robert D’Agostino Abdominal Radiology volume 43, page1270(2018)Cite this article 4109 Accesses Metricsdetails Lewis Gregory Cole, M.D., first described this peculiar deformity of the duodenal bulb. He insisted that this conformation was characteristic of duodenal ulcer in the vast majority of cases, and periduodenal disease in some others. In 1922, it was hailed as a pathognomonic sign to a round of applause [1]. Because of the recurrent course of duodenal ulcer disease before the advent of H-2 blockers and proton-pump inhibitors, after several episodes of ulceration and healing, permanent strands of scar tissue constrict the lumen of the duodenal bulb limiting its normal distensibility [2]. The resultant bulging of the fornices creates “pseudodiverticula” along the duodenal bulb margins, forming the classic cloverleaf or trifoliate appearance seen during a fluoroscopic examination (Fig. 1).

Answer 18

Whipples Whipple disease Whipple disease (gastrointestinal manifestations) Dr Hamish Smith◉ and Dr A Tachibana et al. Gastrointestinal manifestations are a key component of Whipple disease. The gastrointestinal manifestations of Tropheryma whipplei are also known as intestinal lipodystrophy. Pathology Extensive infiltration of the lamina propria with large macrophages infected by intracellular T. whipplei causes marked swelling of intestinal villi and thickened irregular mucosal folds primarily in the duodenum and proximal jejunum. When they become large enough to be macroscopically visible, they may appear as innumerable small filling defects superimposed on irregularly thickened folds (sand-like nodules) Radiographic features Reported radiologic features include: diffuse 1-2 mm micronodules ("sand-like nodules") in the jejunum thickened mucosal folds: especially the jejunum small bowel calibre: normal or slightly dilated mesenteric lymphadenopathy: nodes of very low (near fat) density 2 Dr Hamish Smith◉ and Dr Yuranga Weerakkody◉ et al. Whipple disease is a rare infectious multisystem disorder caused by the actinobacteria Tropheryma whipplei. Epidemiology The incidence of Whipple disease is not truly known, one Swiss study estimated it at approximately 1 per 1.5 million per year 7. The peak age for presentation is in the fifth decade of life. Caucasians are most often affected, and men are affected eight times more commonly than women 5. The disease is more common in farmers and those who work with soil and livestock 8. Clinical presentation Patients often present with a non-destructive migratory arthritis, weight loss, diarrhoea and abdominal pain. Less commonly patients present with fever, lymphadenopathy or hepatosplenomegaly 5. The presence of arthritis may precede other symptoms by years 8. Pathology A suspected diagnosis of Whipple disease can be confirmed by showing periodic acid-Schiff-positive granular foamy macrophages from sampled tissue, such as the small bowel or a peripheral lymph node 5. Location The small bowel (intestinal lipodystrophy) is a classical location although the disease can affect a multitude of other organ systems with or without small bowel involvement. Other locations include 1,2: skin joints central nervous system mediastinum Radiographic features These largely depend on the organ system involved: gastrointestinal manifestations of Whipple disease CNS manifestations of Whipple disease thoracic manifestations of Whipple disease cutaneous manifestations of Whipple disease joint manifestations of Whipple disease Treatment and prognosis CNS involvement with Whipple disease carries poor prognosis and it is invariably fatal without treatment. Approximately half of the patients may show some symptomatic improvement during antibiotic treatment. ~17.5% (range 2-33%) patients may relapse. Thus, early diagnosis and treatment are paramount for survival 6. History and etymology First described by George Hoyt Whipple, American (US) pathologist (1878-1976) in 1907 4. Whipple Disease Distal duodenum and jejunum are most often involved, with distal small bowel/ileum involved in severe cases Thickened, irregular folds with sand-like micronodules Small bowel lumen may be normal or mildly dilated • CT Low-density enlarged mesenteric and retroperitoneal lymph nodes that may have near fat-density Thickened proximal small bowel folds ± submucosal edema due to hypoalbuminemia • MR Lymph nodes may show ↑ T1 signal due to fat TOP DIFFERENTIAL DIAGNOSES * Celiac disease * Intestinal opportunistic infections * Dysgammaglobulinemia * Intestinal metastases and lymphoma PATHOLOGY • Caused by Tropheryma whipplei (probably orally acquired)

Answer 19

graft vs host Graft versus host disease Dr Rohit Sharma◉ and Dr David Clopton et al. Graft versus host disease (GvHD) is a frequent complication of allogeneic haematopoietic stem cell transplantation, commonly known as bone marrow transplantation. Anti-rejection drugs have reduced the incidence, although it does still frequently occur. Pathology Graft versus host disease can present early/acute (\<100 days) or late/chronic (\>100 days) post-allogeneic haematopoietic stem cell transplantation and is one of the major complications of this treatment. The skin, gastrointestinal tract (especially small bowel), and liver are the principal affected organs. Effects on the gastrointestinal tract are the most commonly described in the radiology literature. End-organ damage is the result of recipient's immune system (mainly antigen presenting cells) interacting with donor T-cell, leading to the latter's activation with a resultant cell-mediated and inflammatory cascade 8. The pathophysiology of chronic GvHD is not well understood. Radiographic features Features depend upon the organ involved. Fluoroscopy Gastrointestinal tract On small bowel barium studies, the bowel is described as having a "ribbon" appearance with fold thickening. Other described features are 5: oedema of mucosal folds in ileum and jejunum effacement of folds towards the ileum: can give featureless (atrophic) loops thickening of the bowel wall spasms and stenosis with prestenotic dilatation in the active phase, the bowel can appear shortened On barium esophagram, the presence of oesophageal web or of a stricture/stenosis in the upper two-thirds of the oesophagus is considered diagnostic of chronic graft-versus-host disease 9. CT Abdomen Gastrointestinal tract Described CT features include: bowel wall thickening: considered the most consistent finding can affect small or large bowel or both (commonest 6) bowel dilatation mucosal enhancement engorgement of the vasa recta adjacent to affected bowel segments 3 gastric wall thickening Extraintestinal findings in the abdomen Reported features include: mesenteric stranding: ~60% 6 ascites biliary abnormalities urinary excretion of orally administered Gastrografin

Answer 20

long standing celiac

Answer 21

celiac (moulage = loss of jejunal folds)

Answer 22

scleroderma Hide-bound sign (bowel) Dr Evyn Arnfield and Dr Andrew Dixon◉ et al. The hide-bound bowel sign refers to an appearance on a barium study of the small bowel in patients with scleroderma. The sign describes the narrow separation between the valvulae conniventes which are of normal thickness despite dilatation of the bowel lumen. Although the term hide-bound is used specifically to describe scleroderma, the same appearance may also be seen in sprue. The stack of coins sign, although similar, should not be confused with the hide-bound sign. The former is seen in intramural haematoma as adjacent, thickened folds with sharp demarcation and crowding of the valvulae conniventes. Pathology The cause of hidebound appearance in scleroderma is thought to be asymmetric smooth muscle atrophy of the inner circular muscularis layer relative to the outer longitudinal layer. Contraction of the longitudinal layer results in foreshortening of the bowel and close packing of the valvulae conniventes. History and etymology The term hide-bound sign was coined by Alfred Horowitz and Morton Meyers in a study published in 1973, although according to their article the appearance had been described prior to that 3. The term hide-bound was originally used to describe emaciated cattle.

Answer 23

scleroderma/Systemic sclerosis Scleroderma (gastrointestinal manifestations) Dr Mohamed Saber and Dr Natalie Yang◈ et al. Gastrointestinal manifestations of scleroderma can occur in up to 90% of patients with scleroderma 2 with the most common site of gastrointestinal involvement being the oesophagus. After skin changes and Raynaud phenomenon, gastrointestinal changes are the third most common manifestation of scleroderma. As the clinical presentation, radiographic appearances and differential diagnosis vary with the location of involvement these are discussed sequentially by region. For a general discussion of scleroderma, please refer to the parent article: scleroderma. Pathology Smooth muscle atrophy and fibrosis are thought to be the chief underlying mechanism which leads to luminal dilatation, reduced motility and reduced sphincter tone. Oesophagus The oesophagus is affected in 80% of scleroderma cases. Symptoms include heartburn and dysphagia. Radiographic features dilatation of distal two-thirds of the oesophagus 1 deficient oesophageal emptying in a recumbent position apparent shortening of length due to fibrosis dysmotility of the lower oesophagus (normal peristalsis above aortic arch) gastro-oesophageal reflux due to reduced sphincter tone air-fluid level in the oesophagus when supine (CT) Complications aspiration oesophagitis mucosal erosion fusiform stricture ~4-5 cm above the gastro-oesophageal junction progression to Barrett oesophagus (~40%) 3 higher risk of development of oesophageal cancer (adenocarcinoma) Differential diagnoses The differential diagnosis includes other causes of a dilated oesophagus (see achalasia pattern) and includes: achalasia: distal segment narrowing is less than 3.5 cm central and peripheral neuropathy oesophageal malignancy oesophageal stricture Stomach Gastric involvement is relatively uncommon but can result in delayed gastric emptying with or without gastric dilatation. Gastric vascular antral ectasia (dilated submucosal capillaries), often known as watermelon stomach, may also occur. Small bowel The small bowel is affected in more than 60% of scleroderma patients, the duodenum most frequently. Patients may be asymptomatic or may present with bloating or malabsorption due to bacterial overgrowth. Radiographic features luminal dilatation (can be massive) reduced peristalsis / delayed contrast transit mucosal folds appear relatively normal despite dilatation hidebound bowel sign (crowding of valvulae conniventes): thought to be pathognomonic of scleroderma accordion sign: well seen evenly spaced mucosal folds in duodenum sacculation (often on the mesenteric border) Differential diagnoses sprue: segmentation, flocculation, hypersecretion small bowel obstruction Large bowel The large bowel is affected in ~40% of patients and may cause constipation or diarrhoea. Reduced anal sphincter tone can result in faecal incontinence. Radiographic features pseudosacculation loss of haustration colonic dilatation reduced colonic transit time Differential diagnosis pseudo-obstruction adult Hirschsprung disease

Answer 24

SMA syndrome Superior mesenteric artery syndrome Dr Mohammad Taghi Niknejad and Dr Erik Ranschaert et al. Superior mesenteric artery (SMA) syndrome, also known as Wilkie syndrome or cast syndrome or aortomesentric duodenal compression syndrome, is a rare acquired vascular compression disorder in which acute angulation of the superior mesenteric artery (SMA) results in compression of the third part of the duodenum, leading to obstruction. Terminology SMA syndrome should not be confused with nutcracker syndrome (which can be an association), also a superior mesenteric artery compression disorder, where the SMA compresses the left renal vein, although some authors use the terms interchangeably. Epidemiology It is an uncommon but a well-recognised clinical entity. About 400 cases have been described in the English literature. It is seen more commonly in females than in males and usually occurs in older children and adolescents. Clinical presentation Patients with SMA syndrome may present acutely, with chronic insidious symptomatology, or with an acute exacerbation of chronic symptoms: acute presentation is usually characterised by signs and symptoms of duodenal obstruction chronic cases may present with long-standing vague abdominal symptoms, early satiety and anorexia, or recurrent episodes of abdominal pain, associated with vomiting Pathology Fat and lymphatic tissues around the SMA provide protection to the duodenum against compression. Under conditions of severe weight loss, this cushion around the SMA is diminished, causing angulation and reduction in the distance between the aorta and the superior mesenteric artery. This is usually associated with conditions causing significant weight loss such as: anorexia nervosa malabsorption hypercatabolic states (burns, major surgery, malignancy) severe congestive heart failure causing cachexia Other conditions may also precipitate this syndrome: increased spinal lordosis application of a body cast short ligament of Treitz multiple attachments of the ligament of Treitz to the duodenum high fixation of the duodenum by the ligament of Treitz unusually low origin of SMA an anomalous SMA crossing directly over the aorta associated with diabetes mellitus and blunt abdominal trauma Radiographic features The diagnosis of SMA syndrome is based on clinical symptoms and radiologic evidence of obstruction. Plain radiograph The stomach and proximal duodenum are dilated, and filled with gas and/or fluid. Fluoroscopy Upper GI fluoroscopy can demonstrate dilatation of the first and second part of the duodenum, extrinsic compression of the third part, and a collapsed small bowel distal to the crossing of the SMA. CT/MRI CT and magnetic resonance angiography (CTA/MRA) enable visualisation of vascular compression of the duodenum and measurement of aortomesenteric distance: normally, the aortomesenteric angle and aortomesenteric distance are 28-65° and 10-34 mm, respectively.6 in SMA syndrome, both parameters are reduced, with values of 6° to 22° and 2 to 8 mm.6 History and etymology SMA syndrome was first described by Baron Carl von Rokitansky (1804-1878), Bohemian pathologist, in 1861. Later, Sir David Percival Dalbreck Wilkie (1882-1938), English surgeon, provided a more detailed clinical and pathophysiologic description in a series of 75 patients in 1927 and suggested treatment approaches 4,5. Treatment and prognosis Traditionally, treatment has consisted of conservative measures such as: start with the medical management, first which include decompression of the stomach and duodenum with a nasogastric tube, correction of nutritional and electrolytes deficiencies, through TPN, or preferably, if possible, enteral feeding with a nasojejunal tube past the point of compression, which fulfils nutritional requirements while avoiding the complications of TPN. When tolerated, oral feeding may be resumed. This helps build up the fat cushion between the SMA and aorta and, hence, may help in reversing the situation. posturing manoeuvres during meals and motility agents may be helpful in some patients lying in right decubitus position may relieve compression of duodenum Surgery may be considered if conservative treatment fails: duodenojejunostomy is effective in the majority of patients laparoscopic duodenojejunostomy offers a new minimally invasive therapeutic approach to SMA syndrome laparoscopic surgery involving lysis of the ligament of Treitz with the mobilisation of the duodenum is another minimally invasive approach Differential diagnosis Other disorders which can present in a similar manner include: diabetic gastroparesis scleroderma with duodenal involvement hereditary megaduodenum megaduodenum due to aganglionosis. The distinction between these entities and SMA syndrome is important, particularly if surgical intervention is being considered.

Answer 25

amoebiasis In the later stages, the cecum characteristically loses its normal sac-like appearance and gradually narrows until it becomes cone-shaped or pyramidal in outline (Figs. 1.23, 1.24, 1.25,1.26). The ileocecal valve often moves downward and may appear to lie close to the tip of the cecum. The valve is invariably thickened, rigid and fixed in an open position, allowing reflux to occur in virtually all barium enema examinations, unlike tuberculosis in which reflux is uncommon. The combination of a conical cecum with a normal-appearing terminal ileum helps to rule out other entities, such as tuberculosis and Crohn's disease, in most patients, although the terminal six inches of ileum may be involved in 10% or more of patients with severe cecal amebiasis. Fig. 1.23 Cecal amebiasis with classical conical or pyramidal deformity of the cecum and marked thickening and fixation of the ileocecal valve in two different patients (A and B). There is also shortening of the ascending colon in patient (A). In both patients, there is reflux into a normal terminal ileum which permits differentiation in most patients from Crohn's disease, tuberculosis, and other inflammatory diseases of the right colon and ileocecal area. (C) Gross specimen of the ascending colon, cecum and terminal ileum of another patient with amebiasis showing several ulcers within a contracted cecum as well as marked thickening of the ileocecal valve and the cecal wall. The ileum is normal. AFIP 113157-05011.

Answer 26

ulcerative colitis

Answer 27

Crohns String sign (bowel) Dr Matt A. Morgan◉ and Dr Behrang Amini et al. The gastrointestinal string sign (also known as the string sign of Kantor) refers to the string-like appearance of a contrast-filled bowel loop caused by its severe narrowing. Originally used to describe the reversible narrowing caused by spasms in Crohn disease, it is now used for any severe narrowing of the bowel lumen, including that seen in hypertrophic pyloric stenosis, gastrointestinal tuberculosis, carcinoid tumour and colon cancer. History and etymology Described in a short case series of six patients with terminal ileitis by John L Kantor, an American gastroenterologist from New York, in 1934 4. This was only two years after Crohn's seminal paper on his eponymous inflammatory bowel disease.

Answer 28

femoral hernia

Answer 29

paraduodenal hernia Dilated small bowel loops (up to 3.8 cm in diameter). Looks like an internal hernia (?right paraduodenal hernia through ? Waldeyer's ring). Although the lateral portion of the third of duodenum is not seen, however no other definite signs of bowel non rotation noted. The relation of the SMA and the SMV appears to be maintained. The hernial sac is also showing significant amount of fluid. Clinical Data: Appendicitis. Dilated small bowel loops are noted (measuring up to 3. 8 cm). Although the lateral portion of the third part of the duodenum is not seen, however no other definite signs of bowel mal-rotation noted. The relation of the SMA and the SMV appears to be maintained. The small bowel loops appear to be herniating in posterior and right lateral direction resulting in alteration of the course of the SMA. The hernial sac is displacing the SMA which is seen lying anterior to the hernia sac. The artery is then looping and turning posteriorly and subsequently supplying the herniated bowel loops by branches that are now running posteriorly and towards the right. Significant amount of fluid noted in hernial sac. However, the wall of the herniated loops appears to be enhancing at present. Fluid also seen in pericaecal and retrocolic region along ascending colon. Appendix not clearly defined. ICJ is normal. Terminal ileum is stretched but normal. Features are consistent with Right paraduodenal internal hernia with small bowel intestinal obstruction. Findings confirmed surgically. Paraduodenal hernia Dr Daniel J Bell◉ and Dr Matt A. Morgan◉ et al. Paraduodenal hernias, although uncommon, have classically been the most common type of internal hernia. However, the incidence of postoperative internal hernias has been increasing recently. The two most common types, the left and right paraduodenal hernia involve small bowel herniating through a congenital opening in the mesenteries. These internal hernias may result in closed-loop bowel obstruction. Clinical presentation The patient typically presents with symptoms of small bowel obstruction: abdominal pain, nausea, vomiting. Pathology Left paraduodenal hernia the more common of the two paraduodenal hernias (75%) small bowel herniates through the fossa of Landzert, a congenital failure of fusion of the descending colon mesentery to the peritoneum in the left upper quadrant Right paraduodenal hernia the less common of the two paraduodenal hernias (25%) small bowel herniates through the fossa of Waldeyer, a congenital failure of fusion of the ascending colon mesentery to the peritoneum in the right lower quadrant associated with small bowel malrotation Radiographic features These hernias usually appear as a sac-like cluster of small bowel loops in an atypical presentation. A closed-loop obstruction may occur within these loops due to the hernia. However, it is not unusual for small bowel loops to cluster in an atypical position in normal patients. Thin patients may be especially challenging since it may be difficult to follow the course of the collapsed loops of small bowel. Because of this, vascular landmarks around a potential internal hernia "sac" are critical for making a confident diagnosis. left paraduodenal hernia cluster of small bowel loops in the left anterior pararenal space the cluster of small bowel loops is behind the inferior mesenteric vein (IMV) and behind the ascending left colic artery right paraduodenal hernia cluster of small bowel loops is inferior to the third portion of the duodenum the cluster of small bowel loops is behind the superior mesenteric vein (SMV), the superior mesenteric artery (SMA), and the right colic vein

Answer 30

pseudomyxoma peritonei

Answer 31

hepatitis B (or fibrolamellar HCC)

Answer 32

cholangiocarcinoma

Answer 33

Budd-Chiari

Answer 34

hyperplastic nodules

Answer 35

fatty liver

Answer 36

hemochromatosis

Answer 37

AIDS cholangiopathy Intra and extra hepatic biliary dilatation noted with multiple small outpouchings from peripheral intrahepatic biliary radicals, seen as small hyperintensities with surrounding oedema on T2 fat sat in right lobe of liver. Beaded appearance of intrahepatic biliary radicals noted similar to sclerosis cholangitis. T2 hypointense calculous noted in distal end of CBD. Multiple small hypodensities noted in liver adjacent dilated peripheral intrahepatic biliary radicals. Distal CBD calculous with biliary dilatation is seen. Case Discussion Diagnosis of AIDS cholangiopathy was made as the patient was HIV+ve with very low CD4 counts \<100 cells/mm3. Infectious cholangitis characterised by opportunistic organisms in AIDS patients is known as AIDS cholangiopathy. The differential diagnosis includes sclerosing cholangitis and pyogenic cholangitis. AIDS cholangiopathy Dr Henry Knipe◉◈ and Assoc Prof Frank Gaillard◉◈ et al. AIDS cholangiopathy refers to an acalculous, secondary opportunistic cholangitis that occurs in AIDS patients as a result of immunosuppression. Pathology Characterised by multiple irregular strictures essentially indistinguishable from primary sclerosing cholangitis (PSC). There are four pathological patterns: a combination of sclerosing cholangitis and papillary stenosis (50%) isolated intrahepatic sclerosing cholangitis–like appearance (20%) isolated papillary stenosis (15%) long-segment extrahepatic duct stricture +/- concurrent intrahepatic disease (15%) Aetiology No definite organism is identified in up to half of the patients. It typically affects patients with low CD4 counts (\<135/mm3). Postulated causative organisms include: cytomegalovirus (CMV) herpes simplex virus (HSV) Cryptosporidium parvum Microsporidium Mycobacterium avium complex Differential diagnosis chemotherapy-induced cholangitis primary sclerosing cholangitis (PSC) eosinophilic cholangitis Attach ImagesReferences

Answer 38

recurrent pyogenic cholangitis Recurrent pyogenic cholangiohepatitis Dr Mohamed Saber and Dr Charudutt Jayant Sambhaji et al. Recurrent pyogenic cholangiohepatitis, previously known as oriental cholangiohepatitis, is a condition most commonly found in patients residing in or immigrated from Southeast Asia and is characterised by intra and extrahepatic bile duct strictures and dilatation with an intraductal pigmented stone formation. Diagnosis is made after exclusion of more common conditions such as biliary stricture of a known cause, such as previous surgery, trauma, primary or secondary sclerosing cholangitis, and cholangiocarcinoma. Clinical presentation The common clinical presentation is that of recurrent right upper quadrant pain, fever, and jaundice. Leucocytosis with elevated alkaline phosphatase and bilirubin are seen. Pathology The exact aetiology is not well understood but hepatobiliary infestation with Clonorchis sinensis (liver fluke) (see: clonorchiasis) or Ascaris lumbricoides have been implicated. Other associations include poor nutritional or socioeconomic status and ascending cholangitis from gut Escherichia coli flora. The fluke acts like a nidus for stone formation, either directly, or by causing strictures which aid stone formation. Periductal inflammatory changes with infiltration of periportal spaces with inflammatory cells leading to periductal fibrosis and stricture which could ultimately result in focal liver fibrosis or diffuse biliary cirrhosis. Radiographic features MRCP is superior to ERCP in depicting intra- and extrahepatic changes. The best diagnostic clues are intra- and extrahepatic biliary dilatation and multilevel strictures with intraductal pigmented calculi, usually in the absence of gallbladder calculi, a combination of variable density calculi/sludge and regions of segmental liver atrophy (particularly, lateral aspect of the left hepatic lobe) secondary to chronic biliary obstruction. CT stones are usually hyperdense to the liver parenchyma focal areas of fibrosis with heterogeneous enhancement and focal steatosis MRCP reduced arborization of peripheral ducts: "arrowhead sign" multiple intra- and extrahepatic biliary strictures Treatment and prognosis Interventional radiology plays a role in the percutaneous biliary drainage of affected segments, removal of pigment stones, balloon dilation of biliary strictures and repeated percutaneous procedures to clear pigment stones and mud-like biliary debris. Complications biliary cirrhosis cholangiocarcinoma (in ~5% of cases) References

Answer 39

adenomyomatosis

Answer 40

autoimmune pancreatitis

Answer 41

1. RP fibrosis 2. sclerosing cholangitis 3. fibrosis mediastinitis 4. inflammatory pseudotumour

Answer 42

pancreatic cancer The first image is a prone view from UGI series showing mass effect on 2nd and 3rd portions of the duodenal sweep. The second image is an RAO view from UGI series showing mass effect on 3rd portions of the duodenal sweep with mild dilatation of proximal duodenum. Pancreatic ductal adenocarcinoma Dr Mohammad Taghi Niknejad and Assoc Prof Frank Gaillard◉◈ et al. Pancreatic ductal adenocarcinoma makes up the vast majority (~90%) of all pancreatic neoplasms and remains a disease with a very poor prognosis and high morbidity. On imaging, it usually presents as a hypodense mass on CT that is poorly marginated, which may encase vessels and the common bile duct. Epidemiology Pancreatic cancer accounts for 22% of all deaths due to gastrointestinal malignancy, and 5% of all cancer deaths 1. In general, it is a malignancy of the elderly with over 80% of cases occurring after the age of 60 1. Risk factors Risk factors include: cigarette smoking: the strongest environmental risk factor a diet rich in animal fats and protein obesity family history: three or more first-order relatives with pancreatic cancer results in ~20x risk 8 hereditary syndromes 6 HNPCC familial breast cancer familial atypical multiple mole melanoma (FAMMM) hereditary pancreatitis ataxia-telangiectasia Peutz-Jeghers syndrome Perhaps surprisingly there is only a weak if at all present association with heavy alcohol consumption 1. Clinical presentation pain (most common) Courvoisier gallbladder: painless jaundice and enlarged gallbladder Trousseau syndrome: migratory thrombophlebitis new-onset diabetes mellitus lipase hypersecretion syndrome (10-15%) 9 polyarthralgia and subcutaneous fat necrosis +/- lytic bone lesions elevated serum lipase and eosinophilia Pathology Three precursor lesions for pancreatic adenocarcinoma have been identified 8: pancreatic intraepithelial neoplasia (PanIN) intraductal papillary mucinous neoplasm (IPMN) mucinous cystic neoplasm Cancerous cells arise from the pancreatic ductal epithelium. As the majority of tumours (90%) 1 are not resectable, diagnosis is usually achieved with imaging (typically CT scan) although laparoscopy is often required to confirm resectability 1,2. The key to accurate staging is the assessment of the SMA and coeliac axis, which if involved exclude the patient from any attempted resection 1,2. Histological subtypes adenocarcinoma: majority acinar cell carcinoma of the pancreas adenosquamous carcinoma of the pancreas undifferentiated with osteoclasts giant cells Location and classification head and uncinate process: two-thirds of cases body and tail: one-third of cases 1 Staging Please see pancreatic ductal adenocarcinoma staging. Recurrence is probably better estimated by a risk score than by staging10 Radiographic features Fluoroscopy Barium meal/small bowel follow-through If large enough may demonstrate a reverse impression on the duodenum: Frostburg inverted 3 sign or a wide duodenal sweep. Ultrasound Findings are non-specific and include: hypoechoic mass double duct sign may be seen CT CT is the workhorse of pancreatic imaging. Typically ductal adenocarcinomas appear as poorly defined masses with extensive surrounding desmoplastic reaction. They enhance poorly compared to adjacent normal pancreatic tissue and thus appear hypodense on arterial phase scans in 75-90% of cases, but may become isodense on delayed scans 1 (thus the need for multiple phase scanning when pancreatic cancer is the clinical question). The double duct sign may be seen. Calcifications are very rare in adenocarcinoma and when present are more likely due to a pre-existing condition such as chronic pancreatitis 11. CT correlates well with surgical findings in predicting unresectability (positive predictive value of 89-100% 3). The most important feature to assess locally is the relationship of the tumour to surrounding vessels (SMA and coeliac axis). If the tumour surrounds a vessel by more than 180 degrees, then it is deemed T4 disease and is unresectable 3. MRI Signal characteristics include: T1: hypointense cf. normal pancreas 5 T1 FS: hypointense cf. normal pancreas 5 T1 + C (Gd): slower enhancement than the normal pancreas, therefore dynamic injection with fat saturation with arterial phase imaging is ideal T2/FLAIR: variable (therefore not very useful), depending on the amount of reactive desmoplastic reaction 1,5 MRCP: double duct sign may be seen Treatment and prognosis Most tumours are not resectable at diagnosis. Surgery for stage I and II (see staging of pancreatic cancer) does offer the chance of cure, though with high morbidity (20-30%) and mortality (5%) 3. Resection is performed with a Whipple operation. Even when resection is possible, the majority of patients succumb to recurrence, with only a doubling of survival in operated patients 1, from 5% to 10% at 5 years 4. At 12 months following the diagnosis, almost a quarter of the patients will have died 4. Differential diagnosis General imaging differential considerations include: acute pancreatitis chronic pancreatitis other pancreatic neoplasms lymphoma fatty infiltration of the pancreatic head usually involving the anterior portion no secondary signs (e.g. pancreatic duct or common bile duct dilatation) high signal on T1 and signal drop on chemical shift sequences cholangiocarcinoma periampullary tumours pancreatic metastases

Answer 43

serous cystadenoma

Answer 44

solid pseudopapillary

Answer 45

neurogenic bladder

Answer 46

neurogenic bladder

Answer 47

squamous cell

Answer 48

transitional cell

Answer 49

adenocarcinoma

Answer 50

multilocular cystic nephroma

Answer 51

multicystic dysplastic kidney

Answer 52

contralateral renal issues (50%)

Answer 53

staghorn stone

Answer 54

TB ("putty kidney") Shrunken right kidney with extensive amorphous calcification. 5 case questions available Case Discussion This case demonstrates endstage renal tuberculosis (also known as TB autonephrectomy) resulting in the so-called putty kidney.

Answer 55

medullary sponge kidney

Answer 56

Page kidney Page kidney Dr Patrick Rock◉ and Associate Professor Donna D'Souza◉ et al. Page kidney, or Page phenomenon, refers to systemic hypertension secondary to extrinsic compression of the kidney by a subcapsular collection, e.g. haematoma, seroma, or urinoma. Clinical presentation Patients present with hypertension, which may be recognised acutely after an inciting event or following a delay 3. In the acute setting, patients may complain of flank pain. Reduced renal function may be noted. Pathology Compression of the kidney results in compression of the intrarenal vessels, which leads to decreased blood flow to the renal parenchymal tissue and induction of renin secretion. Renin-angiotensin system activation results in hypertension. Aetiology Patients usually have an inciting event that leads to the development of a subcapsular collection, such as trauma or surgery. In some cases, spontaneous rupture of a mass, aneurysm, or cyst can be responsible 3. Radiographic features All modalities will demonstrate a collection surrounding the kidney, of variable density/intensity/echogenicity depending on the nature of the collection. The collection is usually subcapsular in location, maintaining a reniform contour. Importantly, however, the adjacent renal parenchyma should be distorted. Ultrasound On Doppler evaluation, renal arterial resistive index is elevated 4. CT On contrast-enhanced examination, the affected kidney may demonstrate a delayed nephrogram. History and etymology This phenomenon was first described by Irvine H (Heinley) Page (1901-1991) 5,6 in 1939 2 when he discovered that hypertension could be produced in a dog by wrapping one or both kidneys in cellophane. Dr Page was a renowned American cardiologist and is remembered for his research into hypertension, in particular his discovery of serotonin and his work on the renin-angiotensin system.

Answer 57

subacute renal infarct Thoracic aorta graft involving the arch and proximal descending segments with a residual aneurysm arising from the left aspect of the aortic arch. No evidence of endoleak. Retro-oesophageal and retrotracheal bypass graft communicating the right external carotid artery to the left common carotid and subclavian arteries. The graft within the distal descending aorta until just before the coeliac trunk now contains partially occlusive eccentric thrombus located anteriorly, measuring approximately 6.6cm in length. No evidence of endoleak. There has been the correction of the focal aneurysmal dilatation of the abdominal aorta at the level of the superior mesenteric artery. The origin of the coeliac trunk, SMA, and renal arteries are capacious and opacify normally. Circumferential non-significant narrowing is now seen at the distal aspect of the distal aortic anastomosis with further infrarenal atheromatous calcification extending into the common iliac arteries. Central arterial line placed in the left common femoral artery. Portal vein, superior mesenteric vein, and inferior vena cava appear patent. Central venous line within the left common femoral vein. Multiple ill-defined areas of low attenuation scattered through the periphery of the liver and spleen parenchyma are likely regions of infarction. The right kidney is oedematous and shows only patchy medullary and thin capsular enhancement consistent with a diffuse infarct. Similar focal infarct appearances noted within the left kidney inferior moiety. Patchy infarcts also pointed out in both adrenal glands. The bowel is not dilated and has normal wall enhancement. Small amount of free intraperitoneal fluid. Pneumoperitoneum is likely related to the recent surgery. Bilateral pleural effusions and partial lower lobes collapse with superimposed consolidation at the right base and patchy infiltrates right upper lobe laterally. The endotracheal tube is a good position. Airways are unremarkable. The nasogastric tube in situ. Multiple segmental/subsegmental occlusive and non-occlusive pulmonary emboli within the right lower lobe and small volume non-occlusive PEs in the right upper lobe. No radiological features of right heart strain. Some of the patchy consolidation in the right lower lobe may reflect pulmonary haemorrhage secondary to PE in the correct clinical context. Infarction is felt less likely. Case Discussion This is a busy CT scan with a lot of things going on, but the most interest findings are the multiple visceral infarcts involving the liver, spleen, adrenal glands, and both kidneys that are likely thromboembolic sequelae in this clinical context. Cortical rim sign (kidneys) Dr Yahya Baba◉ and Assoc Prof Frank Gaillard◉◈ et al. The cortical rim sign describes the thin, viable rim of subcapsular cortex seen on contrast-enhanced CT or MRI in major renal vascular compromise including: renal artery obstruction from embolism, thrombosis or dissection renal vein thrombosis acute tubular necrosis acute cortical necrosis This occurs because the blood supply to the outer aspect of the cortex is derived from perforating branches of the renal capsular artery which is an early branch of the renal artery. It is, therefore, useful in distinguishing acute pyelonephritis from a segmental renal infarct on contrast-enhanced CT or MRI. In the setting of acute pyelonephritis, the areas of abnormally reduced enhancement typically involve a complete wedge of renal parenchyma, extending from medulla peripherally to the capsule. The imaging appearance is thought to correspond to a combination of oedema and ischaemia. By contrast, segmental renal infarcts may result in wedge-shaped areas of abnormal renal parenchymal hypoenhancement with relative sparing of the cortex where perfusion may be preserved to a thin rim (2-4 mm) of cortex which enhances normally. Unfortunately, the cortical rim sign is only seen in approximately half of renal infarcts and it may be partial or total depending on the level of vascular occlusion.

Answer 58

renal vein thrombosis

Answer 59

medullary RCC

Answer 60

juxtaglomerular cell tumor Juxtaglomerular cell tumour Dr Subhan Iqbal◉ and Dr T Menezes et al. Juxtaglomerular cell tumours, also known as reninomas, are uncommon renal tumour of the juxtaglomerular cells. The tumour cells secrete renin and often cause severe hypertension and hypokalaemia. Epidemiology Juxtaglomerular cell tumour affect all age groups, but are most common in adolescents and young adults, with peak prevalence in the second and third decades of life. There is a female predominance. Clinical presentation Patients with a juxtaglomerular cell tumour present with headaches, dizziness, double vision, retinopathy, nausea, vomiting, and polyuria and most of these may be attributed to hypertension or hypokalaemia. Reninoma may be a reason of cerebrovascular accident and death 5. Pathology Juxtaglomerular cell tumour is often well-circumscribed, yellow to gray-tan in colour, with a complete or partial fibrous capsule usually observed. Histologically cytoplasm of tumour cells consisting of renin and solid sheets of closely packed round to polygonal cells 5. Radiographic features Imaging findings are variable. Ultrasound hypoechoic mass CT variable density with moderate enhancement during late phase after contrast administration MRI Reported signal characteristics include T1: iso-signal intensity T2: high-signal intensity Treatment and prognosis Complete tumour resection by radical or partial nephrectomy is the best treatment for juxtaglomerular cell tumour. Anti-hypertensive agents can be used to manage hypertension until definitive therapy is planned. History and etymology Juxtaglomerular cell tumour was originally described in 1967 by Robertson et al, but first named by Kihara et al. in 1968. Approximately 100 case reports have been published. Differential diagnosis On imaging consider other renal tumours such as glomus tumour - kidney haemangiopericytoma - kidney metanephric adenoma - kidney papillary renal cell carcinoma collecting duct carcinoma urothelial carcinoma renal angiomyolipoma Wilms tumour

Answer 61

schistosomiasis

Answer 62

schistosomiasis

Answer 63

adenocarcinoma of bladder

Answer 64

gonococcal

Answer 65

straddle injury

Answer 66

look at kidneys

Answer 67

DES-related or vaginal clear cell cancer A t-shaped uterus is a type of uterine malformation wherein the uterus is shaped resembling the letter T.[1] This is typically observed in DES-exposed women.[2] It is recognised in the ESHRE/ESGE classification,[3] and is associated with failed implantation, increased risk of ectopic pregnancy, miscarriage and preterm delivery. There is a surgical procedure to correct the malformation.[4] Definition / general Most common subtype of vaginal adenocarcinoma associated with DES exposure in young females; can also occur in postmenopausal women without exposure to DES Terminology Mesonephroid carcinoma, mesonephric carcinoma (Cancer 1970;25:745) Epidemiology Rare vaginal cancer, accounting for 5% to 10% of primary vaginal malignancies (J Minim Invasive Gynecol 2006;13:237) Bimodal age distribution, mean age 22 years (Gynecol Oncol 1996;60:339) in women with exposure to DES and 55 years in postmenopausal women with no history of DES, but who may have pelvic endometriosis (J Minim Invasive Gynecol 2006;13:237, Gynecol Oncol 2006;103:1130) Sites Most common - anterior vaginal wall (Gynecol Oncol 1993;51:266, Gynecol Oncol 2007;105:273); can also occur in elsewhere in vagina Pathophysiology DES causes persistence of Müllerian epithelium while inducing contact between epithelium and the vaginal mesenchyme Unopposed estrogen and obesity causes increase in the peripheral conversion of steroid hormones to estrone by the enzyme aromatase leading to a hyperestrogenic environment (Gynecol Oncol 2006;103:1130) Etiology Most cases occur among women born 1947 through 1971, when pregnant women were most frequently prescribed DES in the United States (Cancer Causes Control 2012;23:207, Gynecol Oncol 1996;60:339) 70% occur in women having intrauterine exposure to DES - also known as DES daughters (Gynecol Oncol 1996;60:339, Gynecol Oncol 2007;105:273, Gynecol Oncol 1993;51:266, Cancer Causes Control 2010;21:999) Endometriosis of vagina and perivaginal area may be a precursor in non-DES exposed females; the frequency of vaginal tumors arising in endometriosis ranges from 4% - 11% (Gynecol Oncol 2006;103:1130, J Minim Invasive Gynecol 2006;13:237) Vaginal adenosis (especially tuboendometrial adenosis) is associated with CCA (clear cell adenocarcinoma) in 90% of cases, suggesting adenosis is a precursor lesion (J Obstet Gynaecol Res 2010;36:681, Adv Anat Pathol 2012;19:296, Gynecol Oncol 1993;51:266) Clinical features Abnormal vaginal bleeding or discharge, although 16 - 25% are asymptomatic (Gynecol Oncol 2007;105:273) Postmenopausal bleeding (Gynecol Oncol 2006;103:1130, J Minim Invasive Gynecol 2006;13:237) Congenital anomalies of GU tract without DES exposure: associated with metanephric and mesonephric remnants and Mü¸llerian duct anomalies (J Obstet Gynaecol Res 2010;36:681, J Pak Med Assoc 2009;59:568) Lymphatic and vascular spread can occur (J Minim Invasive Gynecol 2006;13:237) Can metastasize to regional lymph nodes (J Minim Invasive Gynecol 2006;13:237), lungs (Gynecol Oncol 1993;51:266, Gynecol Oncol 2007;105:273, J Minim Invasive Gynecol 2006;13:237), kidney (Gynecol Oncol 1993;51:266), peritoneum, omentum, ovary, liver and brain (Gynecol Oncol 2007;105:273) Can present with malignant pericardial effusion and cardiac tamponade (Int J Gynecol Cancer 2006;16:1458) May recur in distant sites even in absence of pelvic disease (Gynecol Oncol 1993;51:266) Women exposed to DES in utero (DES daughters) also have increased risk of clear cell adenocarcinoma persisting at older ages and an increased risk of melanoma at young ages, no increased risk of other cancers (Cancer Causes Control 2010;21:999) Prognostic factors Biologic behavior and prognosis differ from squamous cell carcinoma: Better 5 year survival of localized vaginal CCA but greater risk of developing late recurrences after disease free interval; recurrences can occur 2 years to 8 years later (Gynecol Oncol 1993;51:266, Gynecol Oncol 2007;105:273) Non-DES exposed patients may have poorer prognosis compared with DES exposed individuals (J Minim Invasive Gynecol 2006;13:237) Diethylstilbestrol (DES), also known as stilbestrol or stilboestrol, is a nonsteroidal estrogen medication, which is rarely used.[5][6][7] In the past, it was widely used for a variety of indications, including pregnancy support for women with a history of recurrent miscarriage, hormone therapy for menopausal symptoms and estrogen deficiency in women, treatment of prostate cancer in men and breast cancer in women, and other uses.[5] By 2007, it was only used in the treatment of prostate cancer and breast cancer.[8] In 2011, Hoover and colleagues reported on adverse health outcomes linked to DES including infertility, miscarriage, ectopic pregnancy, preeclampsia, preterm birth, stillbirth, infant death, menopause prior to age 45, breast cancer, cervical cancer, and vaginal cancer.[9] In 2020 the GoodRx and Walgreens' sites do not list diethylstilbestrol.[10][11] While most commonly taken by mouth, DES was available for use by other routes as well, for instance, vaginal, topical, and by injection.

Answer 68

adenomyosis

Answer 69

thickening of junctional zone (\>12 mm)

Answer 70

Gartner duct cyst Gartner duct cyst Dr Ayla Al Kabbani◉ and Radswiki◉ et al. Gartner duct cysts develop from embryologic remnants of the Wolffian (mesonephric) duct. They are often noticed incidentally on ultrasound or MRI. Clinical presentation They may cause mass effect on adjacent structures. Pathology Location Gartner duct cysts are located in the anterolateral wall of the proximal (superior) portion of the vagina 2 and are typically located above the level of the most inferior aspect of the pubic symphysis. Histology Like other cysts, they are lined with non-mucinous cuboidal or columnar epithelium. Associations Gartner duct cysts most often are isolated findings, but can also be associated with abnormalities of the metanephric urinary system or in Herlyn-Werner-Wunderlich syndrome 4-7 renal agenesis 7 ipsilateral renal dysplasia 6 cross fused ectopia 5 Radiographic features Typically, they are simple cystic lesions arising from the anterolateral aspect of the superior vagina. They are usually small (\<2 cm) although occasionally they can become very large (up to several centimetres) 3. Complications In rare cases with larger cysts, dyspareunia and problems in obstetric delivery have been described 3. Differential diagnosis General imaging differential considerations include: Bartholin gland cyst: their location at or below the level of the pubic symphysis and usually arising from posterolateral wall of the vagina; this helps to differentiate them from Gartner duct cysts urethral diverticulum: located around the urethra

Answer 71

moles and multiple gestations Theca lutein cyst Dr Andrew Nanapragasam and Dr Yuranga Weerakkody◉ et al. Theca lutein cysts (TLC), also known as hyperreactio luteinalis (HL), are a type of functional ovarian cysts. They are typically multiple and seen bilaterally. Pathology They are thought to originate due to excessive amounts of circulating gonadotrophins such as beta-hCG. Hyperplasia of the theca interna cells is the predominant characteristic on histology. The ovarian parenchyma is often markedly oedematous and frequently contains foci of luteinized stromal cells. Associations they have a very high association with gestational trophoblastic disease. Other reported associations include: multifetal pregnancy 4 polycystic ovarian syndrome (PCOS) diabetes mellitus clomiphene intake ovulation induction rarely pregnancy with background chronic renal failure 2 normal uncomplicated pregnancy 5 Radiographic features The clinical context is vital in correct imaging interpretation. General The cysts are usually large (2-3 cm) and the ovaries often have a typical multilocular cystic appearance across all imaging techniques 4. Ultrasound Bilateral enlarged, multicystic ovaries. The cysts are classically thin walled and have clear contents. There is large amount of solid component which is possibly the residual ovarian stroma. MRI Typically seen as bilateral (occasionally unilateral) ovarian enlargement with multiple cysts which are generally of uniform size. The residual parenchyma within the enlarged ovaries have been reported to show 6 T1 C+ (Gd): intense contrast enhancement T2: intermediate signal intensity DWI: high signal Treatment and prognosis Following evacuation of a molar pregnancy, the associated theca lutein cysts resolve by 2-4 months. There are cases reported of nomal pregnancies associated with hyperreactio leutinalis which have resolved gradually post delivery. Surgical emergency is only if ovarian torsion occurs. Differential diagnosis For large multiple bilateral ovarian cysts consider ovarian hyperstimulation syndrome: can also be an association often has a history of ovulation induction may have free pelvic fluid mucinous ovarian malignancy a more solid component may be present noted ovarian tumour markers +/- beta HCG levels may be elevated ref required

Answer 72

hyperstimulation syndrome (fertility meds)

Answer 73

endometrioma

Answer 74

endometrioma - "shading sign"

Answer 75

hemorrhagic cyst

Answer 76

Meigs syndrome

Answer 77

complete mole - 1st trimester

Answer 78

choriocarcinoma

Answer 79

prostatic utricle Prostatic utricle cyst Dr Mostafa El-Feky◉ and Radswiki◉ et al. Prostatic utricle cyst (or utricular cyst) (PUC) is an area of focal dilatation that occurs within the prostatic utricle. They are midline cystic masses in the male pelvis and can be very difficult or impossible to distinguish from a Mullerian duct cyst. Epidemiology Utricle cysts are most often detected in the 1st and 2nd decades of life (Mullerian duct cysts usually occur in the 3rd and 4th decades). The incidence of prostatic utricle cyst ranges around 11-14% in association with hypospadias or intersex anomalies and up to 50% in the presence of perineal hypospadias 3. Clinical presentation Clinical presentation is variable and includes pelvic mass, obstructive and irritative urinary tract symptoms, haematuria, and suprapubic or rectal pain. Urine may pool in utricle cysts, since they communicate with the urethra, occasionally resulting in post-void dribbling. Some patients may be asymptomatic. Pathology Prostatic utricle cysts always arise from the level of the verumontanum and are always in the midline. Mullerian duct cysts can arise anywhere along the path of Mullerian duct regression, from scrotum to utricle. Utricle cysts are variable in size but are usually smaller (commonly \<10 mm) than Mullerian duct cysts and usually do not extend above the prostate gland (Mullerian duct cysts typically extend above the prostate gland). Associations Association of prostatic utricle cysts with a variety of genitourinary abnormalities is recognised and include: hypospadias cryptorchidism unilateral renal agenesis Mullerian duct cysts have no such associations 1. Radiographic features MRI Seen as midline prostatic cyst. Complications utricle cysts may contain pus or haemorrhage if infected utricle cysts may contain cancer (e.g. clear cell carcinoma, or squamous cell carcinoma) with a reported prevalence as high as 3% Differential diagnosis Mullerian duct cyst See also cystic lesions of the prostate

Answer 80

seminal vesicle cyst Well-defined hyperdense mass (HU = 50) sitting behind the bladder in the region of the right seminal vesicle. Note absent right kidney and hypertrophied left kidney. The US confirms an echolucent lesion behind the bladder with posterior acoustic enhancement indicative of a cyst. Note no blood flow on colour Doppler analysis. No kidney in the right renal fossa. Case Discussion These seminal vesicle cysts occur as a result of maldevelopment in the distal mesonephric duct and absence of the ureteric bud. This causes renal agenesis and obstruction to the seminal vesicle and secondary cyst formation due to atresia of the ejaculatory duct. Seminal vesicle cyst Dr Yuranga Weerakkody◉ and Dr Avni K P Skandhan◉ et al. Seminal vesicle cysts can be congenital or acquired. Epidemiology Age of presentation of congenital cysts is during the period of greatest reproductive activity i.e in second and third decades of life, while acquired cysts are most often seen in the elderly age group. Clinical presentation Smaller cysts may be detected incidentally. In symptomatic patients, the usual presenting features include perineal pain, abdominal pain, ejaculatory pain, dysuria, haematuria, increased frequency of micturition, urinary tract infections and infertility. Pathology Aetiology Congenital Congenital cysts occur due to insufficient drainage as a result of atresia of the ejaculatory ducts causing distension of seminal vesicles and further leading to the formation of a cyst. They usually become symptomatic in young adulthood due to the accumulation of secretions. These cysts are mostly unilateral with no predilection for the side of involvement. Congenital cysts are associated with many other urogenital anomalies: renal agenesis or dysgenesis 1 ectopic insertion of ureter into seminal vesicle, ductus deferens, ejaculatory duct or prostatic urethra ductus deferens agenesis Zinner syndrome Acquired Acquired cysts are seen most often secondary to prostatic infection or surgery causing scarring and finally obstruction of the drainage of secretions. This is seen most often bilaterally. obstruction by benign prostatic hypertrophy chronic infection and scarring of the seminal vesicle or ejaculatory duct prior prostate surgery autosomal dominant polycystic kidney disease 5 Radiographic features Seminal vesicles appear normal or enlarged in size with presence of cysts within. Ultrasound These can be imaged by transabdominal ultrasound and are best evaluated by transrectal ultrasound. The cysts may be anechoic or may contain internal debris from haemorrhage or infection. CT Larger cysts may be seen on CT. The cysts may be seen as well defined, low attenuation lesions or thick and irregular walled cysts with hyperdense contents in cases of secondary haemorrhage or infection. These lesions are classically located in the retro-vesicular region and cephalic to prostate. The associated renal anomalies can be depicted well. MRI Best in differentiating cystic pelvic lesions. Abdominal and pelvic anatomy can also be assessed. Classical appearance of cysts is maintained with low T1 and high T2 weighted signal intensity. Some seminal vesicle cysts may have high T1 and T2 signals probably due to proteinaceous contents or haemorrhage. Treatment and prognosis Depending on the size of the seminal vesicle cyst, surgery may be helpful. Differential diagnosis Other causes of male pelvic cystic masses can be included as a differential diagnosis. Müllerian duct cyst - seen in the midline ejaculatory duct cyst - seen in the midline prostatic cysts diverticulosis of ampulla of vas deferens - lateral in location ectopic ureterocele bladder diverticulosis

Answer 81

epidermoid cyst

Answer 82

mixed germ cell tumor

Answer 83

Sertoli Leydig

Answer 84

maternal diabetes

Answer 85

two-vessel cord

Answer 86

placenta previa

Answer 87

placental abruption

Answer 88

placenta acreta

Answer 89

placental chorioangioma

Answer 90

cystic hygroma

Answer 91

dichorionic diamniotic

Answer 92

aberrant right subclavian

Answer 93

left lower lobe collapse

Answer 94

Klebsiella

Answer 95

Actinomycosis

Answer 96

hypersensitivity pneumonitis

Answer 97

fungal pneumonia - invasive Aspergillus

Answer 98

ABPA Finger in glove sign (lung) **Cystic fibrosis complicated by allergic bronchopulmonary aspergillosis** **Case contributed by Radiopaedia admin** **Diagnosis certain** **Presentation** **Paediatric patient with known cystic fibrosis presents with worsening cough. On examination, there was reduced air entry in the right upper lobe.** **There is nodular dense opacification in a finger-in-glove configuration overlying the right hilum and extending into the right upper lobe. This is likely to represent a combination of hilar lymphadenopathy and infective consolidation/bronchial plugging. In addition, there is perihilar consolidation on the left.** **4 case questions available** **Case Discussion** **Atopic patients are predisposed to allergic bronchopulmonary aspergillosis (ABPA) through defective immuno-regulation. Both asthma and cystic fibrosis are strongly associated with atopy. Presenting symptoms raising the possibility of ABPA in these patient groups include worsening respiratory symptoms, low-grade fever, weight loss and malaise.** Dr Yuranga Weerakkody◉ and Dr Jeremy Jones◉ et al. The finger in glove sign can be seen on either a chest radiograph or CT chest and refers to the characteristic sign of a bronchocoele. The same appearance has also been referred to as: rabbit ear appearance mickey mouse appearance toothpaste-shaped opacities Y-shaped opacities V-shaped opacities Pathology Aetiology Obstructive In bronchial obstruction, the portion of the bronchus distal to the obstruction is dilated with the presence of mucous secretions (mucus plugging). Causes of bronchial obstruction include: bronchial hamartoma bronchial lipoma bronchial carcinoid bronchogenic carcinoma congenital bronchial atresia (rarely) Non-obstructive Causes include 4: asthma allergic bronchopulmonary aspergillosis (ABPA) cystic fibrosis

Answer 99

Lemierre Syndrome **CASE:** **Lemierre's syndrome: septic internal jugular thrombophlebitis secondary to pharyngitis** **Case contributed by Dr Mohammad A. ElBeialy◉** **Diagnosis certain** **Presentation** **Acute swelling of the right arm with neck swelling and pain.** **Thrombosis of the right internal jugular vein evidenced by its distended calibre, enhancing wall and intraluminal low attenuation filling defects as well as thrombosis of the right brachiocephalic vein, the right subclavian and axillary veins with consequent multiple paravertebral collateral venous channels noted.** **Overt peri-vascular relative hypoattenuating density with inflammatory soft tissue tumefaction is seen involving the right carotid space, posterior cervical space, right aspect of the visceral space and supra and infra retropharyngeal space with marginally enhancing hypodense collection. The lesion is noted compressing the right thyroid cartilage and trachea to the contralateral side, effacing the right parapharyngeal fat planes, it is extending anteriorly to encase the right lateral aspect of the anterior jugular vein and laterally being inseparable from the right sternocleidomastoid muscle.** **Normal course and calibre of both carotid arteries as well as left jugular vessels. Normal superior vena cava. Bilateral multiple enlarged lymph nodes are seen at the submental and both submandibular and internal jugular chains groups bilaterally.** **Case Discussion** **Acute thrombosis of the right internal jugular and right brachiocephalic vein, right subclavian and axillary veins with inflammatory peri-vascular and neck spaces hypoattenuating lesion and collection as well as a small retropharyngeal marginally enhancing collection (likely an abscess / pseudo-abscess) as described consistent with septic thrombosis of the internal jugular vein (Lemierre's syndrome).** **Lemierre's syndrome refers to the purulent or septic thrombophlebitis of the internal jugular vein as a complication of pharyngitis. Lemierre's disease could be even further complicated by distant metastatic abscesses in the lungs with septic pulmonary emboli, brain abscesses or elsewhere (septic arthritis can lead to acute osteomyelitis).** Lemierre syndrome Dr Mostafa El-Feky◉ and Assoc Prof Frank Gaillard◉◈ et al. Lemierre syndrome (also known as postanginal septicaemia) refers to thrombophlebitis of the internal jugular vein(s) with distant metastatic sepsis in the setting of initial oropharyngeal infection such as pharyngitis/tonsillitis with or without peritonsillar or retropharyngeal abscess. Epidemiology Since the advent of antibiotics, the incidence of Lemierre syndrome has reduced significantly, now affecting between 0.6-2.3 per million people. There is a male predominance, with 70% of patients between the ages of 16 and 25 years. Clinical presentation Patients typically present unwell, with trismus and pain behind the angle of the jaw. Neck swelling may be evident. Bacteraemia and distal infective thromboembolism are common (lungs most commonly affected, however almost any organ may be involved 4). A significant proportion of patients (13% to 27%) will require diagnostic arthrocentesis due to symptoms of septic arthritis. Meningitis has also been shown to complicate up to 3% of cases 8. Pathology An anaerobic Gram-negative bacillus, Fusobacterium necrophorum, is responsible for a majority (80%) of cases and gives rise to the term necrobacillosis 1. In up to one-third of patients polymicrobial bacteraemia is demonstrated, anaerobic streptococci and other miscellaneous gram-negative anaerobes are also found frequently 8. Reports contain meticillin-resistant Staph. aureus (MRSA) as well 9. Radiographic features The growth of characteristic anaerobic bacteria from blood culture may be a key finding but takes too much time. Depicting internal jugular vein thrombophlebitis is often the first diagnostic clue. Contrast-enhanced CT is considered gold-standard. Cases with isolated thrombophlebitis of tributaries of the internal jugular vein, e.g. common facial vein, have been described 2. A high degree of suspicion in the appropriate clinical setting is essential for diagnosis. Ultrasound Ultrasound may show hyperechoic thrombus within the internal jugular vein or other neck or facial veins. Spectral Doppler of a patent vessel may show loss of respiratory phasicity and cardiac pulsatility. This indicates the presence of a more proximal thrombus not accessible sonographically. The limitations of grey-scale ultrasound are well-described in literature. Imaging with colour Doppler may overcome some of these shortcomings. The underlying site of infection is frequently not depicted. Nonetheless, the identification of thrombophlebitis of the internal jugular vein is the first hard evidence to suggest Lemierre’s syndrome in many patients 8. CT/MRI Many authors consider CECT as the imaging study of choice due to availability and its allowance for visualisation of complications and underlying infection 6-8. Both modalities may with a high grade of confidence: show an intraluminal filling defect in the jugular venous wall, frequently superior to ultrasound due to better assessment of deeper venous segments depict sites of septic emboli, most often encountered as pulmonary septic emboli (most commonly, see above), more readily visualised by CT depict the site of primary infection Treatment and prognosis If unrecognised and untreated, systemic dissemination can occur with a dismal prognosis; studies from the modern era still report mortality rates as high as 18% 8. Treatment is usually with anticoagulation, intravenous antibiotics and potentially surgically drainage for non-resolving abscesses. History and etymology It is named after Andre Lemierre (1875–1956) 11, a French bacteriologist who described the typical features of the disease in 1936 3. However Courmont and Cade first described the condition in 1900 as "human necrobacillosis" 11.

Answer 100

Fusobacterium necrophorum Lemierre Syndrome: A Forgotten Disease September 18, 2015 Naveen K Voore, MD , Vincent J Stravino, MD Symptoms closely resemble "strep" throat but suspicion for Lemierre should run high when pharyngitis and fever persist. Fig 1. Chest x-ray shows cavitary lesions in both lung fields. Fig 2. CT neck, sagital view shows thrombus in left internal jugular vein. Fig 3. CT neck, coronal view shows thrombus in left internal jugular vein. Fig 4. CT neck; thrombus in left internal jugular vein. Fig 5.Chest x-ray; air-fluid-filled cavitary lesions bilaterally. Fig 6.CT chest; cavitary lesions bilaterally. A 20-year-old woman with no significant past medical history presents with sore throat, body aches, and high-grade fevers of two weeks’ duration. For the past week, she has experienced intermittent right-sided pleuritic chest pain, neck pain, and mild dry cough. She has never smoked and denied any recent travel or exposure to any sick contacts. On physical examination, her temperature was 39.6°C (103.4°F), heart rate, 108 beats/min, blood pressure 108/76 mm Hg, and O2 saturation, 94% on room air. Pertinent positive findings on physical examination were, slight induration around anterior aspect of the neck and palpable posterior cervical lymph nodes. She also had significant pharyngeal erythema and bilateral crackles in the lower lung fields upon auscultation. Laboratory evaluation showed WBC of 28,000/cm3 with left shift and thrombocytopenia. Results of rapid strep and mono spot tests were negative and blood cultures were drawn. Initial chest x-ray showed multifocal nodular infiltrates suspicious for septic emboli (Figure 1, click to enlarge). She was admitted to ICU for presumed sepsis and was treated with vancomycin and piperacillin-sulbactam (Zosyn). Later, a CT scan of the neck was performed. Results showed mild nonspecific thickening of the left tonsillar pillar and a thrombus in left internal jugular vein (Figures 2, 3, and 4, click to enlarge). On hospital day three, her chest x-ray and CT scan of the chest showed multiple cavitary lesions bilaterally consistent with septic emboli throughout both lung fields (Image 5, 6, click to enlarge). Subsequently blood cultures were positive for Fusobacterium necrophorum. A diagnosis was made of Lemierre syndrome and her antibiotic course was changed to ampicillin-sulbactam. The patient improved significantly and was discharged to home a week later. Lemierre Syndrome, first described by Andre Lemierre in 1936, is a rare form of disseminated septic thrombophlebitis. The syndrome is characterized by super infection with Fusobacterium necrophorum, jugular vein thrombosis, and distant septic emboli.1 Healthy young adults are at a higher risk for this infection and have a significant mortality rate. The organism is a part of the normal oral flora and alteration of the immune system related to primary viral or bacterial infection may lead to super infection with Fusobacterium necrophorum in the pharyngeal or parapharyngeal region. The infection can progress via breakdown of the mucosal barrier to involve the carotid sheath by local invasion.2 This may allow for septic thrombophlebitis in the internal jugular vein3 which can lead to septic emboli primarily in the lungs4 and, rarely, the liver and spleen. Clinical suspicion should be high for this syndrome in patients with antecedent pharyngitits, persistent fevers, and septic pulmonary emboli. Blood cultures and imaging studies such as ultrasound and CT scan with intravenous contrast play a crucial role in confirming the diagnosis. Early treatment with appropriate antimicrobial agents would prevent significant morbidity and mortality. The actual duration of therapy is not clearly defined in literature.5 https://www.patientcareonline.com/view/lemierre-syndrome-forgotten-disease

Answer 101

small cell lung CA Small cell lung cancer (SCLC) is a highly aggressive form of pulmonary malignancy which accounts for 15–20% of lung cancer cases [1]. SCLC is well known for its rapid doubling time, tendency to metastasize, and its affinity for relapsing. Nearly 60–70% of patients with SCLC present with disseminated disease [1], and early diagnosis improves outcomes. Typical presentations include cough, dyspnea, and weight loss. However, SCLC can present in more atypical ways. Paraneoplastic syndromes such as syndrome of inappropriate antidiuretic hormone secretion (SIADH), Lambert-Eaton myasthenic syndrome, hypercalcemia, and Cushing’s syndrome are some atypical presentations. Up to 10% of patients with lung cancer develop a paraneoplastic syndrome during the course of their disease progression [2]. An even smaller number of patients have paraneoplastic syndromes as their presenting feature. It is therefore not surprising that abnormal laboratory values can be misinterpreted as isolated findings when there is no obvious evidence of malignancy. SCLC has almost an exclusive association with cigarette smoking. In one study, smoking was associated in 100 and 97.9% of cases in men and women, respectively [3]. With this strong of a relationship, SCLC should be considered in current and past smokers with evidence of abnormal laboratories or symptoms consistent with paraneoplastic syndromes. The following case depicts how identifying a paraneoplastic syndrome helped uncover an underlying SCLC and improve one patient’s prognosis. https://bmcpulmmed.biomedcentral.com/articles/10.1186/s12890-018-0729-y

Answer 102

squamous cell CA

Answer 103

Lambert-Eaton Lambert-Eaton myasthenic syndrome Dr Hamish Smith◉ and Dr Henry Knipe◉◈ et al. Lambert-Eaton myasthenic syndrome (LEMS) is a rare neuromuscular junction disorder of paraneoplastic or primary autoimmune aetiology. Epidemiology LEMS is the second most common neuromuscular junction disease after myasthenia gravis. Two-thirds of LEMS present as a paraneoplastic syndrome secondary to malignancy, most commonly lung cancer, less commonly breast, ovarian and pancreatic cancer and lymphoma. Clinical presentation The most common clinical feature is progressive proximal leg weakness. Deep tendon reflexes are almost always decreased. A less prominent but characteristic feature is autonomic dysfunction, most commonly dry mouth. Less common features include oropharyngeal and ocular symptoms related to weakness, such as dysphagia, dysarthria, ptosis, and diplopia. The diagnosis is confirmed by electrodiagnostic studies and serology. Specifically, repetitive nerve stimulation demonstrates an increase in compound muscle action potential after increasing the stimulation frequency or after exercise, a phenomenon known as postactivation facilitation. Antibodies against the P/Q-type voltage-gated calcium channel are relatively specific for the diagnosis. Radiographic features A diagnosis of LEMS should prompt a search for an underlying malignancy, at least including chest CT, with additional consideration of FDG-PET 4,5. These studies most commonly reveal a tumour corresponding to small cell lung carcinoma.

Answer 104

bronchopleural fistula

Answer 105

adenoid cystic

Answer 106

ritalin lung

Answer 107

asbestosis

Answer 108

chronic rejection/bronchiolitis obliterans syndrome

Answer 109

lipoid pneumonia (inferring mineral oil use/aspiration)

Answer 110

chronic hypersensitivity pneumonitis

Answer 111

scleroderma (with NSIP)

Answer 112

hepatopulmonary syndrome

Answer 113

solitary fibrous tumor of pleura

Answer 114

pulmonary veno-occlusive disease

Answer 115

Lymphedema and chylous pleural effusions (Yellow Nail Syndrome) Yellow nail syndrome: a review Stéphane Vignes & Robert Baran Orphanet Journal of Rare Diseases volume 12, Article number: 42 (2017) Cite this article 11k Accesses 39 Citations 17 Altmetric Metricsdetails Abstract Yellow nail syndrome (YNS; OMIM 153300, ORPHA662) is a very rare disorder that almost always occurs after 50 years of age but a juvenile or familial form has also been observed. YNS is diagnosed based on a triad associating yellow nail discoloration, pulmonary manifestations (chronic cough, bronchiectasia, pleural effusion) and lower limb lymphedema. Chronic sinusitis is frequently associated with the triad. YNS etiology remains unknown but a role of lymphatic impairment is usually evoked. YNS is more frequently isolated but may be associated in rare cases with autoimmune diseases, other clinical manifestations implicating lymphatic functions or cancer and, hence, is also considered a paraneoplastic syndrome. YNS management is symptomatic and not codified. YNS can resolve spontaneously. Oral vitamin E alone or even better when associated with triazole antifungals may achieve partial or total disappearance of nail discoloration. Pleural effusion can be treated surgically, with decortication/pleurectomy or pleurodesis. Antibiotic prophylaxis is prescribed for bronchiectasia with chronic sputum production. Lymphedema treatment is based on low-stretch bandages and the wearing of elastic compression garments combined with skin care, exercises and, as needed, manual lymph drainage. Definition YNS is characterized by a triad of thickened yellow nails, primary lymphedema and respiratory manifestations. It is an acquired condition of unknown etiology. It is a syndrome – not a disease – that is associated with conditions as different as diseases implicating the lymphatic system, autoimmune diseases or cancers. Whereas Samman & White’s first description of YNS included only nail discoloration, Emerson added pleural effusion to the diagnostic criteria [3]. Among the three clinical YNS characteristics (yellow nail syndrome, respiratory tract involvement, lymphedema), only two are required to diagnose YNS but it is difficult to call the entity YNS without nail abnormality [4]. Moreover, the three components are not necessarily present simultaneously, and may appear individually and sequentially, thereby making YNS diagnosis difficult. The complete triad is present only in 27–60% of the patients [5–10] (Table 1). The percentage differences of a given clinical manifestation may be attributed to the medical specialty that recruited the patients. Pulmonary manifestations Lung involvement in YNS, which occurred in 56–71% of the patients, diversely affected some parts of the respiratory tract with a variety of clinical manifestations [6–8]. Chronic cough is the most frequent pulmonary manifestation seen in 56% of YNS patients [6], with pleural effusions found in 14–46% of the patients [6, 7]. Based on their retrospective systematic review of more than 150 patients described in publications identified with the search terms “pleural effusion” and “YNS”, Valdés et al. recently reported the characteristics of these pleural effusions [32]: 68.3% were bilateral; the fluid appeared serous in 75%, milky (chylothorax) in 22% and purulent (empyemas) in 3.5%; 95% of effusions were described as exudates (median protein level: 4.2 g/dl) and 5% as transudates that harbored a median nucleated cell count of 1540 cells/mm3 with 96% lymphocytic predominance. However, sputum bacteria (Pseudomonas aeruginosa, Haemophilus influenzae, Streptococcus pneumoniae, Moraxella catarrhalis) are the same in idiopathic and YNS-associated bronchiectasias [33]. Recurrent pneumonias occur in 22% of the patients. Also, bilateral apical fibrosis, patchy alveolar infiltrates and cystic lesions are very rarely observed in YNS patients [33, 34]. YNS patients’ pulmonary function test results are usually normal or may indicate a moderate-to-severe restrictive syndrome attributable to pleural effusions [4]. Extremely rare patients may have mixed obstructive–restrictive syndrome or decreased diffusion capacity [6]. Histological examination of pleural biopsies revealed normal morphology or that of chronic fibrosing pleuritis, and did not provide any further information; biopsies are usually not contributive [32]. Bronchiectasias are present in 44%. Chest computed-tomography (CT) scan is the best imaging technique to diagnose bronchiectasia, which, in YNS patients, is significantly less extensive, severe and with lower bronchial wall thickness scores than in matched idiopathic bronchiectasia patients [33]. https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0594-4

Answer 116

extrapleural hematoma Extrapleural haematoma Assoc Prof Craig Hacking◉◈ and Dr Yuranga Weerakkody◉ et al. Extrapleural haematomas are uncommon and usually seen in the context of rib fracture, subclavian venous catheter traumatic insertion, and blunt chest injury. Pathology Extrapleural haematomas result from the accumulation of blood in the extrapleural space where the overlying extrapleural fat is displaced centrally. Aetiology injury to intercostal arteries or veins in the setting of trauma traumatic insertion of a subclavian central venous catheter or intercostal catheter less commonly, from other vessels such as aortic rupture Radiographic features Plain radiograph When located laterally, an extrapleural haematoma may cause the typical peripheral pleural opacity which has smooth borders with the pleura without acute angles. When anterior or posterior, the frontal X-ray will just show non-specific opacification. CT May show a focal extrapleural collection in the appropriate clinical context with an extrapleural fat sign. They may be biconvex or nonconvex, with the former being larger. Treatment and prognosis Biconvex extrapleural haematomas more often require surgical intervention, while non-convex haematomas are usually be managed conservatively 4.

Answer 117

extrapleural hematoma

Answer 118

bronchial or tracheal injury

Answer 119

pulmonary infarct

Answer 120

tree-in-bud (not centrilobular or random nodules)

Answer 121

mucinous BAC

Answer 122

Steal Syndrome **Anomalous left coronary artery from the pulmonary artery (ALCAPA)** **Case contributed by Dr Vincent Tatco** **Diagnosis certain** **Presentation** **Easy fatigability. Echocardiography showed dilated coronary arteries suspicious for coronary fistula.** **The coronary arteries are tortuous and dilated. The right coronary artery arises from the anterior coronary sinus of the aortic root. The left main coronary artery arises from the main pulmonary artery. The left anterior descending and circumflex coronary arteries arise from the left main coronary artery. Multiple collaterals are seen. There is reflux of contrast from the left main coronary artery into the main pulmonary artery suggestive of reversal of flow. No significant stenosis or coronary fistula identified in this examination.** **Overall findings are consistent with an anomalous left coronary artery from the pulmonary artery (ALCAPA).** **Case Discussion** **Anomalous left coronary artery from the pulmonary artery (ALCAPA), also known as Bland-White-Garland syndrome, is a rare coronary artery anomaly that affects 1 in 300,000 live births 1. ALCAPA arises from either abnormal septation of the aorta and the pulmonary artery or from the persistence of aortic buds that form the coronary arteries 2. It can occur as an isolated anomaly or in conjunction with other lesions such as atrial septal defect, ventricular septal defect and coarctation of the aorta 3.** **In fetal life, the pulmonary artery pressure equals systemic pressure, allowing for satisfactory myocardial perfusion from the pulmonary artery through the anomalous coronary artery. After birth, the pulmonary artery contains desaturated blood at a pressure that rapidly falls below systemic pressure. As pulmonary arterial pressure drops, the combination of low flow and desaturated blood causes myocardial ischaemia, especially during exertion. Collateral vessels develop between the right and left coronary arteries and may provide adequate perfusion to the left myocardium. Further decrease in pulmonary arterial pressure results in a reversal of flow, as the left coronary artery drains from the right coronary artery, through the collaterals, into the pulmonary artery (left-to-right shunting). This is known as myocardial steal phenomenon, which may cause ischaemia or infarction of the anterolateral left ventricular wall. Patients who survive to adulthood may develop a good collateral network with tortuous and dilated left and right coronary arteries 1-5.** Anomalous left coronary artery from the pulmonary artery Dr Mostafa El-Feky◉ and Dr Yuranga Weerakkody◉ et al. Anomalous left coronary artery from the pulmonary artery (ALCAPA), also known as Bland-White-Garland syndrome (BWG), is a rare congenital coronary artery anomaly and is considered one of the most severe of such anomalies. There are two forms, based on onset of disease, each of which has different manifestations and outcomes 5: infantile type infants experience myocardial infarction and congestive heart failure 90% die within the 1st year of life adult type manifests in adults results in chronic myocardial ischaemia and dysrhythmias a cause of sudden cardiac death Epidemiology This abnormality only accounts for 0.25-0.5% of all congenital cardiac anomalies 3. Associations It is most often an isolated anomaly, associated with other cardiac anomalies in only ~5% of cases 3,7: atrial septal defect (ASD) ventricular septal defect (VSD) patent ductus arteriosus (PDA) coarctation of the aorta tetralogy of Fallot (TOF) Clinical presentation In the infantile type, ALCAPA presents typically when infants are 1-2 months old. Presenting complaints are typically nonspecific and include diaphoresis, irritability, wheezing and respiratory distress. Precordial auscultation may reveal a murmur. ECG deep (\>5 mm), narrow Q waves typically in the lateral leads I, aVL, V5-6 most suggestive feature on the ECG, but may be absent in up to 45% of patients 10 high left ventricular voltage 8 meeting voltage criteria of left ventricular hypertrophy characteristic of adolescents and older children may be accompanied by left axis deviation poor R wave progression 9 defined by an R wave height \<3 mm in lead V3 Pathology ALCAPA refers to a cardiovascular anomaly where the left main coronary artery arises from the pulmonary trunk instead of the left coronary sinus of the ascending aorta. Aetiology Either of two aetiologies can be responsible for ALCAPA: the bulbus cordis undergoes abnormal septation into the aorta and pulmonary trunk persistence of the pulmonary buds with concomitant involution of the aortic buds that are precursors of the coronary arteries Pathophysiology During the first month of life, physiologic pulmonary hypertension tends to preserve antegrade blood flow within the left coronary artery, and infants usually remain asymptomatic. Shortly thereafter, pulmonary artery pressure, resistance, and oxygen content decrease. Thus, the left ventricle receives blood with low oxygen content at low pressure, causing myocardial ischaemia. Further increases in myocardial oxygen consumption ensue in infarction of the anterolateral left ventricular free wall, often with resultant mitral valve insufficiency in approximately 80-85% of cases (infantile type). However in 10-15% of patients, these events stimulate the development of collateral circulation from the right coronary artery to the anomalous left coronary circulation, thus these patients can reach adulthood, the disease most commonly manifesting as late-onset rhythm disorders due to the altered cardiac electric currents. Diminished pulmonary vascular resistance results in flow reversal in the left coronary artery into the pulmonary trunk (i.e. coronary steal phenomenon). Congestive heart failure (CHF) is the end result of left ventricular dysfunction in combination with significant mitral insufficiency. Radiographic features Cardiac CT ECG-gated cardiac CT allows direct visualisation of anomalous left main coronary arterial origin from the posterior aspect of the pulmonary artery. The right coronary artery may be unusually dilated and tortuous with evidence of collateral formation. Intercoronary collateral arteries along the external surface of the heart or within the interventricular septum may also be seen. Treatment and prognosis Prognosis depends significantly on the extent of collateral formation, however, most infants die within the first year of birth 4. Death is usually due to circulatory insufficiency from left ventricular dysfunction or mitral valve incompetence, myocardial infarction, or life-threatening cardiac dysrhythmias 3. Early surgical repair is potentially curative. The Takeuchi procedure involves the creation of an aortopulmonary window and an intrapulmonary tunnel that baffles the aorta to the ostium of the anomalous left coronary artery.

Answer 123

Williams syndrome Williams syndrome **Williams syndrome with midaortic syndrome** **Case contributed by Dr Henry Knipe◉◈** **Diagnosis certain** **Presentation** **Hypertension and renal failure.** **The descending thoracic and abdominal aorta is very small calibre. Origins of the renal arteries, coeliac trunk and superior mesenteric arteries are also narrowed. Enlarged arc of Riolan.** **Case Discussion** **Williams syndrome can be a cause of midaortic syndrome via an elastin arteriopathy in approximately 50% of patients. Midaortic syndrome is a rare cause (0.5-2%) of aortic coarctations. There is severe narrowing of the abdominal aorta, often with involvement of the coeliac trunk and superior mesenteric artery (~30%) and renal arteries (90%).** **References** Dr Mostafa El-Feky◉ and Dr Yuranga Weerakkody◉ et al. Williams syndrome (WS), sometimes called Williams-Beuren syndrome, is characterised by some or all of the following features: craniofacial dysmorphism (e.g. elfin facies) oral abnormalities short stature (50% of cases) mild to moderate intellectual disability supravalvular aortic stenosis 2 pulmonary artery stenosis 3 renal insufficiency hypercalcaemia Pathology Genetics A deletion of chromosome band 7 that encodes the elastin gene is thought to be present in ~95% of cases 1. It is predominantly a sporadic inheritance. Williams syndrome is a rare cause of medullary nephrocalcinosis 5 and middle aortic syndrome 6. History and etymology Williams syndrome was first identified in 1961 by J C P (John Cyprian Phipps ) Williams (1922-fl.1970s), a New Zealander cardiologist, who was a rather eccentric individual. He was last seen alive in the mid 1970s in Salzburg in Austria. Interpol were unable to locate Dr Williams after a request from his sister and in 1988 the High Court of New Zealand decreed that he was “a missing person presumed to be dead from 1978” 4,7.

Answer 124

Turners Turner syndrome Dr Joachim Feger◉ and Assoc Prof Frank Gaillard◉◈ et al. Turner syndrome, also known as 45XO or 45X, is the most common of the sex chromosome abnormalities in females. Epidemiology The incidence is estimated at 1:2000-5000 of live births, although the in utero rate is much higher (1-2% of conceptions) due to a significant proportion of fetuses with 45X aborting by the 2nd trimester. Clinical presentation In adults, it is one of the most important causes of primary amenorrhoea and accounts for approximately one-third of such cases. Pathology Genetics Turner syndrome is classically characterised by the absence of one X chromosome copy (45 XO), with the missing chromosome most frequently (two-thirds) being the paternal one. Most cases occur as a sporadic event. However, the classic genetic change is not present in all cases. Three main subtypes include: complete monosomy (45XO): ~60% even though it is relatively common, almost all 45 XO fetuses will spontaneously abort, with 70% lost between 16 weeks and term partial monosomy (structurally-altered X chromosome): ~15% mosaicism (XO and another sex karyotype): ~30% Unlike the common trisomies, there is no association with maternal age. Markers serum alpha-fetoprotein (AFP): decreased beta HCG elevated if hydrops present decreased if no hydrops serum inhibin elevated if hydrops present absent if hydrops absent Associations hypertension glucose intolerance inflammatory bowel disease hypothyroidism: due to the formation of thyroid antibodies (most commonly Hashimoto thyroiditis) gonadal dysgenesis / ovarian dysgenesis Complications In utero complications include: development of hydrops fetalis: usually from fluid overload secondary to lymphatic failure Radiographic features Antenatal ultrasound cystic hygroma: may appear septated; one of the most typical features of Turner syndrome increased nuchal thickness increased nuchal translucency coarctation of the aorta: 15-20% bicuspid aortic valve horseshoe kidney / pelvic kidney mild IUGR features related to complicating hydrops fetalis short fetal limbs Postpartum-to-adulthood features Musculoskeletal scoliosis short 4th metacarpal: positive metacarpal sign narrowing scapholunate angle: positive carpal sign abnormal medial femoral condyle decreased carpal angle: Madelung deformity short stature webbed neck valgus deformity of the elbow: increased carrying angle (cubitus valgus) Pelvic ultrasound streaky uterus streak ovary Gastrointestinal pyloric stenosis Treatment and prognosis Overall prognosis very variable is dependant on associated anomalies. While the vast majority of fetuses are aborted in the second trimester, some may have a long life expectancy. Cases with mosaicism do much better. Mental development is unaffected. History and etymology It is named after the American endocrinologist Henry H Turner (1892-1970) 7 who first described the syndrome in 1938. Differential diagnosis General differential considerations include: Noonan syndrome: can have similar phenotypical features but normal karyotype

Answer 125

mitral regurgitation

Answer 126

Alagille syndrome Alagille syndrome Case contributed by Dr Jayanth Keshavamurthy Diagnosis certain Presentation Known patient with Alagille syndrome, branch pulmonary artery stenosis and a left pulmonary artery (LPA) stent. Stable appearance of the median sternotomy wires with the most inferior wire fractured. Stable pulmonary artery vascular stent. No focal areas of consolidation or pleural effusions are identified. The cardiac silhouette is not enlarged Case Discussion Surgery initially, thereafter multiple cardiac interventions for pulmonary aretry stenosis with stents. Alagille syndrome Dr Mostafa El-Feky◉ and Dr Yuranga Weerakkody◉ et al. Alagille syndrome (also known as arteriohepatic dysplasia) is a congenital genetic multisystem disorder. Clinical presentation Infants typically present with symptoms relating to the liver where it is one of the most common causes of hereditary cholestasis. Genetics Alagille syndrome is inherited in an autosomal fashion with a mutation of the JAG1 (90%) and NOTCH2 (1-2%) genes, located on the short arm of chromosome 20. Microdeletion of 20p12 is seen in ~7.5% of patients 6. Pathology The spectrum of disease in Alagille syndrome is diverse: hepatic paucity +/- stenoses of intrahepatic bile ducts that can eventually lead to cirrhosis and hepatic failure 4 renal variable, including cystic kidney disease, small kidneys, echogenic kidneys and nephrocalcinosis 5 ocular posterior embryotoxon otic hypoplasia of the posterior semicircular canal skeletal butterfly type vertebrae (~50%) facial triangular facial cardiovascular coarctation of the aorta 1 (rare) peripheral pulmonary artery stenosis History and etymology Named after Daniel Alagille, a French paediatrician (1925-2005) who first described it 9.

Answer 127

Ebsteins case 1 Marked cardiomegaly, most pronounced on the right. Pulmonary vasculature is difficult to evaluate, and aortic arch is inapparent. Case Discussion Electrocardiography revealed Ebstein anomaly. Ebstein anomaly Dr Daniel J Bell◉ and Dr Yuranga Weerakkody◉ et al. Ebstein anomaly is an uncommon congenital cardiac anomaly, characterised by a variable developmental anomaly of the tricuspid valve. Epidemiology The anomaly accounts for only ~0.5% of congenital cardiac defects 6,7, although it is the most common cause of congenital tricuspid regurgitation. There is no recognised gender predilection, and almost all cases seem to be sporadic, although an association with maternal lithium carbonate injection has been postulated 6. A few familial cases have been reported 6,7. Associations chromosomal anomalies trisomy 13 trisomy 21 Turner syndrome multiple other congenital heart lesions (ASD is quite common) conduction abnormalities leading to arrhythmia (common), e.g. Wolf-Parkinson-White syndrome maternal lithium carbonate ingestion: possible Clinical presentation The presentation is often antenatal, with the development of hydrops fetalis and fetal tachyarrhythmias 6. In less severe cases, it may present at birth. Depending on the degree of atrial right-to-left shunting, the infant may or may not be cyanotic. ECG right atrial enlargement right bundle branch block may be incomplete or complete abnormal PR interval associated with the Wolff-Parkinson-White syndrome alternatively, may demonstrate a prolonged PR interval Pathology The main abnormality is an abnormal tricuspid valve (particularly septal and posterior leaflets), which is displaced apically into the right ventricle, resulting in atrialisation of the parts of the ventricle above the valve. This results from the tricuspid valve leaflets inadequately separating from each other, or from the chorda tendinae from the inferior portion of the ventricle, during embryologic development. There can be concurrent tricuspid regurgitation with or without stenosis. Radiographic features Plain radiograph Findings on chest radiographs largely depend on the severity of the abnormality and the degree to which the tricuspid valve is displaced downwards. There is often severe right-sided cardiomegaly due to an elongated and enlarged right atrium which may result in an elevated apex. Classically, the heart is described as having a "box shape" on a frontal chest radiograph. Echocardiography/ultrasound Diagnosis relies on visualisation of the septal leaflet of the tricuspid valve, typically appreciated from transthoracic parasternal and apical windows. Apical displacement the septal leaflet in excess of 8 mm per m2 (body surface area) with “sail-like” elongation is considered diagnostic 12. Further features include: tricuspid regurgitation degree of right/left ventricular dysfunction right atrial enlargement calculation of the chamber area ratio in the apical 4 chamber view at end-diastole sum of the right atrial and atrialised right ventricular areas divided by the remaining three cardiac chambers values of one or more considered markedly enlarged/severe and portend a poor prognosis 11 CT/MRI Allows direct visualisation of anatomical detail. Cine MRI can be used akin to echocardiography for functional assessment. apical displacement of the septal and posterior leaflets of the tricuspid valve as a rule of thumb: if the tricuspid septal attachment lies more than 1.5 cm "beneath" (i.e. towards the apex) than mitral septal attachment, this can be considered Ebstein anomaly (in adults, the measurement is 2 cm) some prefer a value indexed to body surface area a septal displacement below the mitral valve of \>8 mm/m2 (or \>0.8 mm/cm2) is the cutoff value 9 for Ebstein anomaly "atrialisation" of the right ventricle tricuspid regurgitation If you find Ebstein anomaly, also look for other associated defects: right ventricular outflow tract (RVOT) abnormalities, ASD (especially ostium secundum type), VSD, and tetralogy of Fallot. In your report, mention the position of tricuspid valve leaflets, assess the degree of regurgitation, and measure right ventricular volume and function. Be sure that you quote "true" RV volume (volume of the ventricular side of the tricuspid valve). Treatment and prognosis As the anomaly is of variable severity, so is the prognosis. Severity is related to the amount of RVOT dysfunction and tricuspid regurgitation. Sudden death from arrhythmia may occur. Symptomatic cases that present in utero have a poorer prognosis 6-7. Even in initially asymptomatic cases, life expectancy is usually limited to a few decades 7. Some surgical procedures have been performed with mixed results. Arrhythmias are treated with medications or pacemaker placement. History and etymology It is named after Wilhelm Ebstein, a German physician (1836-1912) 4. Differential diagnosis The differential on a chest radiograph is extremely broad, particularly since the findings in Ebstein anomaly are so variable. With echocardiography and MRI, the diagnosis is usually self-evident, once the apically displaced tricuspid valve in identified. Differential on a chest radiograph includes: other congenital heart anomalies left to right shunts: enlarging right atrium pulmonary stenosis: right heart enlargement tetralogy of Fallot Uhl anomaly 3 large pericardial effusion selective fatty infiltration of the right ventricular myocardium 3 prominent thymus

Answer 128

congenital heart Introduction Congenital anomalies of the aortic arch complex include left-sided, right-sided, and double aortic arches, with various branching patterns of the great vessels. They result from aberrant development of one or more components of the embryonic pharyngeal arch system [1]. According to Edwards’ hypothetical embryonic double aortic arch model, each primitive aorta consists of a ventral and a dorsal segment [1]. Six paired primitive aortic arches develop between the ventral and dorsal aortae. It is possible to describe most anomalies of the aortic arch by postulating regression of a segment that would normally persist, and/or persistence of a segment that would normally regress [2]. In accordance with this, the Edwards classification describes 3 types of right aortic arch (RAA): RAA with mirror image branching (RAMI), RAA with aberrant left subclavian artery (ALSA) and RAA with isolation of the LSA [3]. RAMI is the second most common form of a right-sided arch, after right arch with ALSA. This anomaly results from regression of the left dorsal aorta distal to the origin of the seventh intersegmental artery, so that the left fourth arch becomes the proximal subclavian artery rather than the definitive aortic arch [4]. We report a case of a 79 years old woman with right aortic arch with mirror image branching (RAMI) discovered as incidental finding. Go to:

Answer 129

Holt Oram Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present in affected individuals. Holt Oram syndrome: hooked lateral clavicles absence of the thumbs some hypoplasia of the radii Case Discussion There is absence of the thumbs and some hypoplasia of the radii. The clavicles display a prominent lateral hook. In association with congenital heart disease, the upper limb deformities are suggestive of Holt Oram syndrome which was confirmed. This patient's father also had the condition. Holt-Oram syndrome Dr Daniel J Bell◉ and Dr Yuranga Weerakkody◉ et al. Holt-Oram syndrome (HOS) is an autosomal dominant syndrome that results in congenital heart defects and upper limb anomalies: congenital heart defects atrial septal defect (ASD) (commonest cardiac defect 4) ventricular septal defect (VSD) aortic coarctation upper limb abnormalities radial ray anomalies, e.g. radial aplasia, radial hypoplasia, radial fusion thumb anomalies, e.g thumb aplasia phocomelia clavicle hypoplasia Pathology Genetics A large proportion of affected individuals have mutations in the TBX5 gene. It is thought to carry an autosomal dominant inheritance with full penetration but variable expression. However between 50 and 80% of cases may be due to new mutations. Radiographic features Antenatal ultrasound The diagnosis can be suspected amongst the differential if upper limb abnormalities are noted along with heart defects on fetal ultrasound. The limb defects can be asymmetrical. History and etymology Two British cardiologists, Mary Clayton Holt (1924-1993) 10 and Samuel Oram (1913-1991) 11, described the condition in 1960 9. Differential diagnosis General considerations include Aase syndrome VACTERL association TAR syndrome: thrombocytopenia - absent radius syndrome

Answer 130

Downs Four chambered view of the heart demonstrates ostium primum atrial septal defect (ASD), arrow. Note absence of any atrial septal tissue superior to the crest of the ventricular septum. The right atrium (RA) and right ventricle (RV) are enlarged. LA, left atrium; LV. left ventricle. Apical and precordial views may show "septal drop-outs” without an ASD because of thinness of the septum in the region of fossa ovalis. Therefore, subcostal views should be scrutinized for evidence of ASD. In addition, demonstration of flow across the defect with pulsed Doppler and color Doppler (Figure 3, right panel) echocardiography is necessary to avoid false positive studies. In adolescents and adults transesophageal echo (TEE) is needed to make definitive diagnosis of ASD. (Figures 5 and 6)

Answer 131

**sinus venosus ASD** Partial anomalous pulmonary venous return of right upper pulmonary vein associated with sinus venosus ASD Case contributed by Dr Edgar Lorente◉ Diagnosis certain Presentation Presented with shortness of breath. No other data provided. cxr The electrode of the pacemaker destinated to right ventricle is placed in left ventricle topography, passing through the left atrium. Prominent pulmonary markings, with an atypical morphology of right hilum. Right hilar angle seems to be altered in its superior component. ct: Right upper pulmonary vein draining to superior vena cava is visualised. There is a sinus venosus atrial septal defect, with electrode of pacemaker passing through and located in left ventricle. Prominent pulmonary vascularisation, secundary to increased blood supply to right cavities. Case Discussion Partial anomalous pulmonary venous return (PAPVR) is a rare entity that is frequently associated with atrial septal defects (ASD), so that when PAPVR is diagnosed, a cardiological study should be performed to rule out ASD (and vice versa). In this case, the incidental finding of pacemaker malposition led to the realisation of a CT scan, where both the atrial defect and the abnormal drainage were evidenced. Likewise, this patient had signs of pulmonary hyper afflux due to the left-right shunt. Sinus venosus ASD is a very rare entity (less than 10% of all ASD, according to some series) consisting of a septation defect of the pulmonary veins, vena cava and /or posterior wall of the right atrium. There are two types: upper venous sinus and inferior venous sinus. The upper sinus venosus ASD is associated with superior anomalous drainage, and the inferior sinus venosus ASD is associated with inferior anomalous drainage. So, to take home: look always at the pacemaker and where electrodes are located whenever you see an abnormal pulmonary drainage, look at the heart whenever you see an ASD, look for anomalous drains! Partial anomalous pulmonary venous return Dr Bruno Di Muzio◉◈ and Dr Maxime St-Amant◉ et al. Partial anomalous pulmonary venous return (PAPVR), also known as partial anomalous pulmonary venous connection (PAPVC), is a rare congenital cardiovascular condition in which some of the pulmonary veins, but not all, drain into the systemic circulation rather than in the left atrium. Clinical presentation Patients with large shunts may present with symptoms of dyspnoea, chest pain and palpitations, signs like tachycardia and murmur can be encountered. Cases of secondary pulmonary arterial hypertension have been reported 6,7. Pathology Classification Four types of PAPVR have been described: supra-cardiac persistent left superior vena cava right superior vena cava (most common) brachiocephalic veins (=innominate veins) cardiac right atrium coronary sinus infracardiac portal vein hepatic veins inferior vena cava (Scimitar syndrome) mixed a combination of two or more of the above anomalies Left-sided PAPVR has been reported to be found more often in adults, whereas right-sided PAPVR is reported more commonly in children 3. It is unclear if this is because of a higher proportion of symptomatic manifestation of the latter. The left upper lobe vein anomaly is thought to be most common. Associations in ~40% of patients with right-sided PAPVC, an atrial septal defect is seen 3 more rarely it is seen with ostium primum defect, a subtype of atrioventricular defects Radiographic features Plain radiograph Chest radiographic features are particular to each subtype of PAPVR. The abnormal vein is rarely identified, except in cases of Scimitar syndrome. Pulmonary venous congestion can be seen if the venous drainage is obstructed. Cardiomegaly can also be seen if significant abnormal intracardiac venous drainage occurs. CT Utilisation of contrast-enhanced studies with MDCT technology enables both detection and characterisation of the anomalies. It is considered the imaging modality of choice 3,4. Treatment and prognosis Therapeutic options include surgical repair with ASD patching, intracardiac baffle, anomalous vein anastomosis, systemic vein translocation and Warden procedure inter alia. Differential diagnosis Imaging differential considerations include: total anomalous pulmonary venous return (TAPVR) pulmonary varix persistent left superior vena cava **Sinus venosus atrial septal defects (SVASDs)** are rare congenital cardiac abnormalities (5%–10% of all ASDs) that occur at the posterior aspect of the interatrial septum, close to the junction of the superior or inferior vena cava with the right atrium. They involve the portion of the atrial wall that derives from the sinus venosus and they are often associated with partial anomalous pulmonary venous drainage from the right lung. SVASDs result in a left to right shunt at the atrial level, since the left atrial pressure is greater than the right. They may not cause symptoms in childhood, however patients may become symptomatic with ageing. SVASDs have nonspecific clinical manifestations such as exertional dyspnea, arrhythmias, paradoxical embolism or, very rarely, they may cause inadvertent passage of pacing leads/catheters to the left chambers during interventions.[3] The long term haemodynamic effect is volume overload of the right heart, as a result of the shunt, which can cause pulmonary hypertension if the shunt is significant. Furthermore, the frequently coexistent anomalous pulmonary venous drainage (in around 90% of SVASDs) contributes to additional left-to-right shunting, thus, the development of Eisenmenger physiology can occur earlier compared to an isolated ASD.[4] SVASDs can be misdiagnosed as primary pulmonary hypertension, thus they should always be suspected in case of unexplained right heart chambers dilatation.[5] Transthoracic echocardiography has low sensitivity for the detection of SVASDs (10% approximately) due to their posterior location.[6] Other imaging modalities like TEE, CMR and ECG gated multidetector cardiac computed tomography (CT) can reveal the presence of SVASDs and coexistent anomalous pulmonary venous drainage. Repair of an ASD is indicated when the defect is large, there is right heart dilatation with pulmonary hypertension and Qp/Qs \> 1.5. However, the repair is contraindicated in case of severe irreversible pulmonary hypertension with bidirectional or right-to-left shunt (Eisenmenger physiology), as closure would provoke acute decompensation of the right ventricle.[2] The treatment of choice for SVASD is surgical repair of both SVASD and possible coexistent abnormal pulmonary venous drainage. Percutaneous closure of the defect with a device is technically difficult, because of the lack of adequate rim and the need of redirecting the abnormal pulmonary veins. However, cases of percutaneous closure of an SVASD have been previously described.[7]

Answer 132

rheumatic heart disease

Answer 133

constrictive pericarditis

Answer 134

constrictive pericarditis

Answer 135

**TakoTsubo** **Takotsubo cardiomyopathy** **Case contributed by Dr Gregor Savli** **Diagnosis almost certain** **Presentation** **Chest pain and dyspnoea, which started shortly after her close friend died (on the same day).** **There is normal myocardial contraction only in the basal segments (AHA 1 to 6). Hypokinesia of posteroseptal wall (AHA 8 to 10) and basically akinesia or very little movement of anteroseptal wall and apical segments (AHA 7 and 11 to 17).** **This MRI was performed on the 5th day from the onset of symptoms. No perfusion deficits, oedema or late enhancement was seen on perfusion, T2 BB fatsat and late enhancement (with nulled myocardium) sequences.** **LV ejection fraction was 22%. EDV 136 ml, ESV 106 ml, SV 30 ml.** **1 day after MRI, coronary angiography was also performed and all the coronary arteries were in excellent condition.** **Case Discussion** **The findings are fairly typical for takotsubo CMP. Akinetic, "stunned" myocardium does not follow a vascular territory, instead, it follows LV anatomy - it contracts normally at the base with no contraction at the apex of LV. This results in a typical LV shape, named after the appearance of a Japanese octopus trap.** **There were no signs of myocardial infarction (oedema and/or late enhancement). The coronary arteries were in excellent, "mint" condition.** **These findings, combined with the typical history of a very stressful moment or circumstances are typical for takotsubo cardiomyopathy.** Takotsubo cardiomyopathy Dr Joachim Feger◉ and Dr Yuranga Weerakkody◉ et al. Takotsubo cardiomyopathy (TC) (a.k.a. apical ballooning syndrome) is a condition characterised by transient regional abnormal cardiac wall motion, not confined to a single coronary arterial territory. It has been described predominantly in postmenopausal women, often following exposure to sudden, unexpected emotional or physical stress, and is therefore, also known as broken heart syndrome. Clinical presentation Patients typically present with acute chest pain, a physical exam compatible with acute left ventricular failure, and a clinical picture consistent with an acute coronary syndrome. Following the acute presentation, the prognosis is generally very good, with complete resolution occurring in a number of weeks to months. ECG predominantly precordial ST segment elevation 9 an absence of reciprocal ST depression non-anatomically contiguous distribution may develop reversible Q waves in the same leads the ST segments typically return to isoelectric baseline over 1-3 days T wave inversion deep, symmetric T wave negativity which persists for months prolongation of QT intervalhowever, clinically significant arrhythmias seldom occur, and are predominantly supraventricular in origin, most commonly: atrial fibrillation sinus tachycardia Biochemistry Patients with takotsubo cardiomyopathy can have high levels of serum catecholamines and plasma brain natriuretic peptide (BNP). The secretion pattern of BNP in takotsubo patients can be quite similar to those with a myocardial infarction. The cardiac troponin level may also rise modestly. Diagnosis While there is no definite consensus on the diagnostic criteria for takotsubo cardiomyopathy, a set of diagnostic criteria was proposed in 2004 by researchers at the Mayo Clinic, which has been modified recently 1: transient hypokinesis, akinesis, or dyskinesis in the left ventricular mid segments with or without apical involvement; regional wall motion abnormalities that extend beyond a single epicardial vascular distribution; and frequently, but not always, a stressful trigger absence of obstructive coronary disease or angiographic evidence of acute plaque rupture new ECG abnormalities (ST-segment elevation and/or T-wave inversion) or modest elevation in cardiac troponin absence of phaeochromocytoma and/or myocarditis Pathology There is a transient left ventricular dysfunction with no evidence of obstructive epicardial coronary disease. Radiographic features Echocardiography The "takotsubo" morphology refers to the appearance of systolic "ballooning" of the left ventricular apex; it may also involve the right ventricle. Basal segments of the affected myocardium are hyperdynamic with a diffusely hypocontractile apex, with a disproportionately large amount of myocardium affected as compared to the troponin elevation. This regional dyssynchrony may precipitate: dynamic left ventricular outflow tract obstruction mitral regurgitation Alternate patterns have been described, including a "reverse takotsubo" pattern in which the basal and mid segments of the left ventricle are akinetic and the apex hyperdynamic, or isolated wall motion abnormalities involving the inferior and/or inferolateral walls 10. While the morphology may increase suspicion, the resolution of echocardiographic abnormalities with serial examinations over time increases specificity. Left ventriculography Left ventriculography can demonstrate transient dysfunction and ballooning of the left ventricular mid and apical segments 8. MRI On cardiac MRI, four distinct patterns of dyskinesia and ballooning are recognised: apical (most common), biventricular, mid-ventricular, and basal. There is typically an absence of late enhancement on delayed contrast sequences, which differentiates takotsubo cardiomyopathy from anterior STEMI. There can be high T2 intensity signal (directly relating to water content in the myocardial wall); the oedema is typically located in the apical mid ventricular planes and spares the basal plane, and matches the wall-motion abnormalities seen on cine MRI. MR perfusion: usually normal History and etymology The word tako-tsubo in Japanese refers to a pot used to catch octopi (see Figure 1 opposite) 2. It is thought to have first been described by Keigo Dote et al. in 1991 5. See also WHO/ISFC 1995 cardiomyopathy classification system

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Arrhythmogenic right ventricular cardiomyopathy ARVC Arrhythmogenic right ventricular cardiomyopathy Case contributed by Dr Vlad Barskiy Diagnosis certain Presentation No complaints. Arrhythmia was incidentally detected during medical examination. There are multiple aneurysms of the right ventricle (RV) with areas of myocardial transformation. RV EDV/BSA 154 ml/m2 RV EF 29% Non-compact left ventricular myocardium is also demonstrated. Case Discussion Cardiac MRI findings in the right ventricle are compatible with arrhythmogenic right ventricular cardiomyopathy. Arrhythmogenic right ventricular cardiomyopathy Dr Francis Deng◉ and Dr Yuranga Weerakkody◉ et al. Arrhythmogenic right ventricular cardiomyopathy (ARVC), also referred to as arrhythmogenic right ventricular dysplasia (ARVD) or simply arrhythmogenic cardiomyopathy, is a cardiomyopathy that is one of the more common causes of sudden cardiac death in young patients. Epidemiology The estimated population prevalence is thought to range around 1 in 1000-5000 8. It typically presents in young individuals. There is a recognised male predilection, with a male-to-female ratio of 2.7:1. Several reports suggest that there is a familial occurrence of ARVC of about 30-50%, with mainly autosomal dominant inheritance, various penetrance, and polymorphic phenotypic expression. Clinical presentation Patients with ARVC commonly present with palpitations, syncope, or sudden cardiac arrest due to their propensity for ventricular ectopy arising from the structurally abnormal right ventricle. Exertion is a common trigger for the causative ventricular tachyarrhythmias. Patients may also present with the clinical haemodynamic "congestion" component of CHF, including; jugular venous distension hepatic congestion symmetric, pitting pedal oedema exercise intolerance ECG conduction abnormalitiesfeatures most pronounced in the right precordial leads (V1-3)epsilon wave subtle positive "notch" after the J point and before the T wave localised widening of QRS complex (V1-3) prominent, broad S wave with slurred upstroke inversion of T waves (V1-3) ventricular tachyarrhythmiasusually regular, wide (QRS duration \>0.12) complex rhythms with rates between 140-250 beats per minute typical of monomorphic ventricular tachycardia (VT) deviation of the QRS axis in the frontal plane often demonstrates a morphology consistent with an ectopic origin in the right ventricular outflow tract (RVOT VT) major QRS vector travels from the base to the apex, roughly leftward and inferiorly, thus appearing predominantly positive in leads aVL (high lateral) and II, III and aVF (inferior) may also demonstrate a left bundle branch morphology Associations Diagnosis is based on the presence of structural, histologic, electrocardiographic, arrhythmic, and genetic factors 4. This involves a combination of characteristic abnormalities in family history, electrocardiography, cardiac imaging as well as an endomyocardial biopsy. Diagnostic criteria have also been developed, of which patients must have either two major criteria, one major and two minor criteria, or four minor criteria. See diagnostic criteria for arrhythmogenic right ventricular cardiomyopathy 2. Pathology Two morphologic variants of ARVC have been reported: fatty and fibrofatty. the fatty form is characterised by almost complete replacement of the myocardium without thinning of the ventricular wall, and it occurs exclusively in the right ventricle the fibro-fatty variant is associated with significant thinning of the right ventricular wall, and the left ventricular myocardial wall may also be involved 1,2 Both idiopathic and familial aetiologies have been proposed (see epidemiology above) 2. As the name implies, it classically involves the right ventricle although, on autopsy studies, a sizeable number of cases also show a degree of left ventricular involvement. Left dominant arrhythmogenic cardiomyopathy is a separate entity. Radiographic features Plain radiograph Chest radiographic findings are non-specific and can often be normal. May show evidence of right ventricular dilatation (best seen on a lateral view). Echocardiography Echocardiography has inconsistent sensitivity and specificity for the diagnosis of ARVC and is not considered a primary modality in the final diagnosis 12. The major echocardiographic criteria consistent with ARVC are: regional right ventricular dyskinesia or aneurysm (required) right ventricular outflow tract diameter (measured in the parasternal long-axis) of 36 mm or larger a fractional area change of 33% or less The minor criteria are: regional right ventricular akinesia or dyskinesia (required) right ventricular outflow tract diameter (measured in the parasternal long-axis) between 29 and 35 mm a fractional area change between 34-39% The aforementioned wall motion abnormalities are required. Disproportionate enlargement of the basal right ventricle, severe functional TR may occur in the presence of RV dilatation and dysfunction while visualisation of an intensely echogenic moderator band are supportive features in the presence of major or minor criteria 13. CT May show right ventricular dilation and fatty low attenuation to the right ventricular wall. MRI Cardiac MRI is the most sensitive diagnostic imaging modality. Major cardiac MRI diagnostic criteria are: regional RV akinesia or dyskinesia or dyssynchronous RV contraction and 1 of the following: ratio of RV end-diastolic volume to BSA ≥110 mL/m2 (male) or ≥100 mL/m2 (female) RV ejection fraction ≤40% Minor cardiac MRI diagnostic criteria are: regional RV akinesia or dyskinesia or dyssynchronous RV contraction and 1 of the following: ratio of RV end-diastolic volume to BSA ≥100 to \<110 mL/m2 (male) or ≥90 to \<100 mL/m2 (female) RV ejection fraction \>40% to ≤45% MRI may show fatty infiltration in the right ventricle (and occasionally in the left ventricle) 8, but this can also be seen in normal myocardium 3 and is no longer part of the diagnostic criteria 9. A corrugated pattern to the right ventricular wall may be seen, known as the “accordion sign.” Focal left ventricular dyskinesia may be present with fatty infiltration within the left ventricle. MRI is also helpful in the evaluation of myocardial fibrosis and scarring. Treatment and prognosis ARVC is a progressive disease and will probably lead to right ventricular failure in the long term unless sudden cardiac death occurs beforehand. Therapy is focussed on prevention of arrhythmogenesis by either pharmacologic (amiodarone or beta-blockade) or interventional (e.g. endocardial-epicardial radiofrequency ablation) means. An implantable cardioverter-defibrillator (ICD) is often placed to prevent degeneration of any future paroxysms of the abovementioned tachyarrhythmias. Differential diagnosis Imaging differential considerations include: large right ventricular infarction idiopathic dilated cardiomyopathy hypertrophic cardiomyopathy Uhl anomaly paper-thin right ventricle due to the almost complete absence of myocardial muscle fibres no gender predilection or familial occurrence

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muscular dystrophy * Becker (mild one) and Duchenne (severe one) are x-linked neuromuscular conditions. * They have biventricular replacement of the myocardium with connective tissue and fat (delayed Gd enahcement in the midwall). * They often have dilated cardio,yopathy. * Just think 'kid with dilated heart and mid wall enhancement * CTC p459

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tuberous sclerosis * Most common fetal cardiac tumour. * it is a hamartoma * they prefer the left ventricle * A/W TS * most tumours will regress spontaenously * Those NOT A/W TS are less likely to regress. * CTC vol 1 pg 460

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eosinophilic cardiomyopathy * CTC vol 1 p457 * Loeffler * *Loeffler endocarditis is a rare restrictive cardiomyopathy caused by abnormal endomyocardial infiltration of eosinophils, with subsequent tissue damage from degranulation, eventually leading to fibrosis. Although an uncommon entity, it is still a disease with significant morbidity and mortality.* * Bilateral ventricular thrombus is the classic phrase/buzword. * You will need a long T1 to show the thrombus

Answer 140

cardiac amyloid CTC vol1 p457 * Depositis in the myocardium casues abnormla diastolic funciton with biatrial enlargement, concentric thickening of the LV and reduced systeo.lic function of usually both ventrilces * Seen in 50% of cases with systemic Amyloid. * Has a terrible prognosis * You can sometimes see late Gd enhancement over the entire subendocaridial circumference. * AMYLOID CLASSIC SCENARIO * a long T1 is needed (like 350ms, normal would be like 200ms). * T1 will be so long that the blood pool may be darker than the myocardium. * Buzzword: DIFFICULT TO SUPPRESS MYOCARDIUM Cardiac amyloidosis Dr Mostafa El-Feky◉ and Radswiki◉ et al. Cardiac amyloidosis (plural: amyloidoses) is a significant source of morbidity among patients with systemic amyloidosis and is the most common cause of restrictive cardiomyopathy outside the tropics. Pathology Amyloidosis represents the extra-cellular deposition of insoluble fibrillar proteinaceous material in various organs and tissues in a variety of clinical settings. For a general discussion of the condition please refer to amyloidosis. Cardiac involvement is seen with most forms of amyloidosis, although it is most common and most often clinically significant with primary amyloidosis (i.e. associated with multiple myeloma or other monoclonal gammopathies). There are 2 main forms of amyloidosis that significantly affect the heart. AL amyloidosis: acquired disease transthyretin-related (TTR) amyloidosis: there are 2 types of TTR-related amyloidosis: genetic form: hereditary transthyretin-related amyloidosis (ATTR) non-hereditary form: senile systemic amyloidosis (SSA) Radiographic features Echocardiography Described transthoracic echocardiography findings include atrial septal thickening considered a characteristic feature of cardiac amyloidosis characteristic granular/sparkling appearance of the left ventricular (LV) myocardium: not specific and need to differentiate from other infiltrative diseases increased LV wall thickness results from amyloid infiltration of interstitial space and may relate to amyloid burden decreased LV end-diastolic volume leads to reduced stroke volume despite near-normal LVEF typically preserved or mildly reduced LV ejection fraction systolic dysfunction may occur in advanced disease transmitral flow demonstrates a restrictive filling patternexaggerated E/A ratio (E\>\>A) with a truncated E wave deceleration time (DT) a reduced amplitude A wave may suggest poor atrial function and a higher risk of thrombus formation elevated E/e’ ratio suggestive of elevated left atrial pressurepulmonary venous doppler waveforms will demonstrate a diastolic filling predominance with an S/D ratio \<1 amplitude of atrial reversal (AR) \>35 cm/s duration of AR exceeds mitral A wave by \>20 ms biatrial enlargement right atrial enlargement left atrial enlargement atrial strain: can be significantly reduced longitudinal strain (LS) in the left ventricle is impaired impairment more pronounced at the base and mid-ventricular regions compared to the apex specific patterns of left ventricular LS may differentiate amyloid from aortic stenosis and hypertrophic cardiomyopathy reduced right ventricular systolic excursion velocity (S') as measured by tissue Doppler imaging tricuspid annular plane systolic excursion and RV LS are early indicators of cardiac involvement in patients with systemic AL amyloidosis reduced tricuspid annular plane systolic excursion (TAPSE) despite normal RV end-diastolic dimension dynamic left ventricular outflow tract obstruction distinguish from hypertrophic obstructive cardiomyopathy (HOCM) MRI MRI is the modality of choice for evaluating cardiac amyloidosis. Features include: a diffuse decrease in the T1 and T2 signal intensity of myocardium diffuse left ventricular wall thickening (usually multiple chambers are involved); can be associated with thickening of both atrial walls in which case, a thickening of \>6 mm of the inter-atrial septum or posterior right atrial wall is specific to amyloidosis 10 biventricular diastolic dysfunction with normal systolic function and ejection fraction subsequently (later in the course of the disease) may show systolic biventricular dysfunction with a decreased ejection fraction restriction of diastolic filling disproportionate atrial enlargement pericardial and pleural effusions T1 mapping: native T1 is prolonged even more in AL-amyloidosis than in ATTR-amyloidosis 13-16 extracellular volume is increased especially in ATTR-amyloidosis, for which it is prognostic factor 15,16 T2 mapping: elevated T2 is associated with a worse prognosis in AL-amyloidosis 17 late gadolinium enhancement (LGE) diffuse sub-endocardial heterogeneous increased signal on contrast-enhanced inversion recovery T1-weighted images (a characteristic feature) 11 transmural enhancement may be more prevalent in patients with ATTR compared to patients with AL 6 Nuclear Medicine Tc-99m-DPD, Tc-99m-HMDP (hydroxymethylene diphosphonate) and Tc-99m-PYP (pyrophosphate) 22 have been shown to have high sensitivity and specificity for the diagnosis of cardiac amyloidosis (ATTR) 19,20. Planar +/- SPECT-CT scintigraphy is performed to look for increased cardiac uptake in cardiac amyloidosis. Cardiac uptake is evaluated visually and can be scored using the Perugini scale 18,21. Differential diagnosis Cardiac amyloidosis needs to be distinguished from other forms of restrictive cardiomyopathy, including: hypertrophic cardiomyopathy cardiac sarcoidosis cardiac lymphoma Circumferential thickening of left ventricular walls. Focal increased trabeculations about the lateral apical wall, which does not meet the criteria for a noncompaction. Mild concentric thickening of right ventricular walls. Left atrial enlargement. There is widespread delayed enhancement involving the myocardium and the subendocardium compatible with cardiac amyloidosis. The subendocardial enhancement involves both atria and ventricles. Diffuse prolongation of the native T1-weighted mapping (reaching up to 1200 ms) is demonstrated. Diffuse shortening of the T1-weighted post-mapping images. Abnormal extracellular volume imaging (ECV) is demonstrated. Abnormal patchy mid-myocardium as well as subendocardial enhancement involving most left ventricle. Suspected grade 3 diastolic dysfunction as manifested by near absent A wave. Case Discussion Findings are consistent with cardiac amyloidosis, including concentric ventricular hypertrophy and advanced diffuse fibrosis involving all 4 cardiac chambers. Left ventricular ECV is severely elevated, 45-55%. There is: biventricular systolic dysfunction, LVEF 44% and RVEF 36%. Suspected grade 3 diastolic dysfunction. Peak systolic velocity across the mitral valve 48 cm/s (VENC adjustment is 150 cm/sec). The ratio of E to A, exceeds 2 with nearly absent A wave, suggestive of grade III diastolic dysfunction. ECV = (1- Haematocrit) ( 1 /T1 Myo post - 1/ T1 Myo pre ) divided by (1/ T1 blood post - 1/ T1 blood pre)1 Histopathology (microscopic description): patchy moderately extensive interstitial amyloid deposition; a Congo red stain confirms the diagnosis LC MS/MS detected a peptide profile consistent with ATTR (transthyretin/prealbumin)-type amyloid deposition

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acquired pulmonary AVMs Glenn-Proceedure * CTC pg 464 vol 1 * Glassic Glenn * shunt between the SVC and right PA (end to end), with the additional step of seeing the proximal end of the right PA closed with the goal of reducing RV work by diverting all venous return strain to the lung (right lung). * Bi-Directional Glenn * shunt betn the svc and the right PA (end to side) * The RPA is left open letting blood flow to both lungs * This procedure can be used to address right sided heart problems in general and is also step two in the palliative hypoplastic series. * If its being used as step two in the previously prlacked blalock-Taussig Shunt or Sano shunt will come down as the Glenn will be doing its job of putting blood in the lungs. * HIGH YEILD POINT * GLENN = VEIN TO ARTERY (svc to PA) * Primary purpose is to take systemic blood directly to the pulmonary circulation, bypassing the right heart * Most testable complications * SVC syndrome * PA aneurysms * BT/Blaclock-Taussig = ARTERY TO ARTERY * (Subclavian Artery to PA) * Primary purpose is to increase pulmonary blood flow * Most testable complications * Stenosis at the shunts pulmonary insertion site. * Fontan * Its complicated with multiple versions * Primary purpose * bypass the RV/direct systemic circulation into the PAs. * most testable complications * Enlarged right atrium * Causes arrhythmia * Plastic bronchitis Pulmonary arteriovenous malformations (PAVMs) are a cause of progressive cyanosis after cavopulmonary anastomosis in children with single ventricle physiology who are on the pathway leading to a Fontan procedure. Investigations into possible mechanisms for the etiology of PAVMs are ongoing and suggest that the liver might play a key regulatory role in the development of these lesions. (Ann Thorac Surg 2003;76:1759–66) © 2003 by The Society of Thoracic Surgeons The clinical introduction of the cavopulmonary shunt (Glenn shunt) in the late 1950s was an important contribution to the treatment of children with cyanotic congenital heart disease. The development of this procedure in an animal model and its ultimate use to successfully treat children with single-ventricle physiology is a classic example of the progression of an innovative surgical concept from the laboratory to clinical application [1, 2].

Answer 142

ablation for A-fib

Answer 143

Carney's complex **Mnemonic** **One way to remember the differentiation between the Carney triad and the Carney complex is that the **_C_**arney _C_omplex has **_C_**ardiac findings _(myxoma)._** Carney complex Dr Tristan Skalina◉ and Assoc Prof Frank Gaillard◉◈ et al. Carney complex (not to be confused with the Carney triad) is a rare multiple endocrine neoplasia syndrome characterised by 1-4: cardiac myxoma often multiple seen in two-thirds of patients with Carney complex skin pigmentation (blue naevi): especially of the face, trunk, lips, and sclera Multiple other features are also well recognised including: extracardiac myxoma breast testis thyroid brain adrenal gland: primary pigmented nodular adrenocortical disease (PPNAD) pituitary adenoma psammomatous melanotic schwannoma testicular tumours Sertoli cell tumours: most common osteochondromyxoma Epidemiology Collectively there have been more than 750 cases of Carney complex reported worldwide however the exact prevalence is unknown 6,7. One study of 353 patients found a female predilection (63%) 8. Pathology Carney complex has autosomal dominant inheritance with almost 100% penetrance, related to inactivating mutations or large deletions of the PRKAR1A tumour suppressor gene on chromosome 17q22-24 5,6.

Answer 144

replaced left hepatic artery * If you see a vessel in the fissure of the LIGAMENTUM venosum (where there is not normally a vessel), its probably an accessory or replaced left hepatic artery arising from the left gastric artery. * The proper right hepaic artery is anterior to the right portal vein, whereas the replaced right hepatic artery is posterior to the main portal vein. * This position of the replaced right increases the risk of injury in pancreatic surgeries Variant hepatic arterial anatomy Dr Yahya Baba◉ and Associate Professor Donna D'Souza◉ et al. Variation in hepatic arterial anatomy is seen in 40-45% of people. Classic branching of the common hepatic artery from the coeliac artery, and the proper hepatic artery into right and left hepatic arteries to supply the entire liver, is seen in 55-60% of the population. Terminology An accessory hepatic artery is one which arises from an anomalous origin and supplies a portion of the liver along with another artery. A replaced hepatic artery is one which arises from an anomalous origin and supplies a portion of the liver solely. Variant anatomy In general, the common hepatic artery may arise from the abdominal aorta or superior mesenteric artery (SMA) and all or part of the right and left hepatic arteries may arise from (be replaced to) other vessels. The two most common variants are: replaced right hepatic artery arising from the SMA replaced left hepatic artery arising from the left gastric artery Another common finding, though not considered a variant by many authors, is trifurcation of the common hepatic artery into the right hepatic artery, left hepatic artery and gastroduodenal artery (GDA). With this branching pattern, there is no proper hepatic artery (PHA). Common hepatic artery (CHA) from aorta: 2% from SMA: 2% trifurcation into RHA, LHA and GDA: ~6% (range 4-8%) from coeliacomesenteric trunk (CMT) Right hepatic artery (RHA) from coeliac artery: ~2.5% (range 1-4%) from SMA: ~12.5% (range 9-15%) accessory right hepatic artery from SMA: ~4% (range 1-7%) Left hepatic artery (LHA) from left gastric artery (LGA): ~7.5% (range 4-11%) accessory left hepatic artery from LGA: ~7.5% (range 4-11%) Right and left hepatic arteries RHA from SMA and LHA from LGA: ~1% (range 0.5-2%) accessory RHA and LHA: 1% Middle hepatic artery (MHA) middle hepatic artery usually arises from the left hepatic artery it may arise from the right hepatic artery it may arise as a trifurcation of the proper hepatic artery in the porta hepatis in patients with a replaced left hepatic artery, the middle hepatic artery arises from the right hepatic artery in patients with a replaced right hepatic artery, the middle hepatic artery arises from the left hepatic artery if the bifurcation of the proper hepatic artery is low within the porta hepatic, then the middle hepatic artery may have an extrahepatic course and traverse Calot's triangle Classification A classification method was described by Michel et al. in 1955 6 I: standard anatomy ~60% (range 55-61%) II: replaced LHA ~7.5% (range 3-10%) III: replaced RHA ~10% (range 8-11 %) IV: replaced RHA and LHA ~1% V: accessory LHA from LGA ~10% (range 8-11%) VI: accessory RHA from SMA ~5% (range 1.5-7%) VII: accessory RHA and LHA ~1% VIII: accessory RHA and LHA and replaced LHA or RHA ~2.5% IX: CHA replaced to SMA ~3% (range 2-4.5%) X: CHA replaced to LGA ~0.5% unclassified CHA separate origin from aorta ~2% double hepatic artery ~4% PHA replaced to SMA; GDA origin from aorta \<0.5%

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Corona Mortis * Classically described as a vascular connection between the obturator and external iliac. * some authors describe additional anastomotic apathy ways, * but you should basically think of it as any vessel coursing over the superior pubic rim, regardless of the anastomotic connecting. * The 'CROWN OF DEATH" is significant because it can * be injured in pelvic trauma or * be injured during surgery * it is notoriously difficult to ligate * Some authors report that it causes 6-8% of deaths in pelvic trauma. * The las piece of trivia is that it could hypothetically cause a type 2 endoleak.

Answer 146

syphilis and Takayasu

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Loeys-Dietz Loeys-Dietz syndrome is a recently-described connective tissue disorder with features similar to those of Marfan syndrome, and the vascular type of Ehlers-Danlos syndrome. Loeys-Dietz syndrome is primarily characterized by aortic aneurysms (weakened outpouchings of the aorta, the main artery in the body) in children.

Answer 148

Loeys-Dietz

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syphilitic (Luetic) aneurysm

Answer 150

inflammatory aneurysm

Answer 151

colonic angiodysplasia * Angiodysplasia of the colon is swollen, fragile blood vessels in the colon. This can result in blood loss from the gastrointestinal (GI) tract. The digestive system organs in the abdominal cavity include the liver, gallbladder, stomach, small intestine and large intestine. * Small bowel vascular angiodysplasia Case contributed by Dr Dalia Ibrahim◉ Diagnosis almost certain Presentation Multiple episodes of melaena. Iron deficiency anaemia. * **Focal small nodular areas of enhancement and bulbous swelling of the intramural veins in the wall of the jejunum, undetectable on arterial phase and brightest on enteric phase. Enlarged draining antimesenteric jejunal veins.** **Mesenteric congestion. The jejunal bowel loops show circumferential mural thickening.** * **The first image shows focal small nodular areas of enhancement and bulbous swelling of the intramural veins in the wall of the jejunum (red circles), undetectable on arterial phase and brightest on enteric phase. Enlarged draining antimesenteric jejunal veins (yellow arrows).** **The second image shows marker (Chevron) at the site of the ablated jejunal lesions using balloon-assisted endoscopy. Mesenteric smudging (congestion) is also noted.** **Case Discussion** **This patient had a balloon-assisted endoscopy which confirmed the jejunal angioectasia and the lesions were ablated with a marker applied to the site of intervention. Congestive enteropathy was also noted at endoscopy.** **Angioectasia is the most common cause of obscure gastrointestinal bleeding.** **they consist of thin tortuous veins that lack an internal elastic layer.** **peak incidence: 7th and 8th decades of life** **Endoscopy: angioectasias consist of punctate or patchy areas of erythema, 2–10 mm in size.** **CT: focal punctate or discoid areas of enhancement \<5 mm in size or bulbous swelling of the intramural vessels in the wall of the small bowel, especially in the jejunum.Enhancement is brightest during the enteric phase and fades somewhat during the delayed phase. These lesions don't enhance during the arterial phase, which distinguishes them from arterial lesions.**

Answer 152

Budd-Chiari

Answer 153

look in belly for badness

Answer 154

look in belly for badness

Answer 155

May Thurner

Answer 156

look for AAA (and the other leg)

Answer 157

distal emboli

Answer 158

Marginal vein of Servelle (supposedly pathognomonic for Klippel-Trenaunay) Klippel-Tranuanay Syndrome is a rare sporadic disease characterized by clinical triad of capillary malformation; soft tissue and bony hypertrophy; and atypical varicosity. KTS is most commonly a sporadic event. Several theories have been proposed, including Servelle's theory of a primary obstruction of the venous system resulting in venous hypertension and therefore development of abnormal venous pathways and tissue overgrowth. Failure of regression of the lateral limb bud vein is another mechanism. Alteration of the tight balance between angiogenesis and vasculogenesis, which is controlled by numerous genes, among other theories. Berry et al in 1998 speculated that in KTS there is an alteration in vascular remodelling, perhaps at the level of altered angiopoietin-2 antagonism. The classic clinical triad includes capillary malformations (port wine stain), a usually longer and larger extremity because of soft tissue and bone hypertrophy atypical mostly lateral superficial varicosity. Patients with at least two of the three cardinal features have been classified as having an incomplete form of KTsyndrome. Deep vein anomalies like venous hypoplasia to frank aneurysm, valve hypoplasia to avalvulia have been decribed.Lymphatic malformations have also been prevalent. The venous malformations frequently present as persistence of embryonic veins, of which the lateral marginal vein (the vein of Servelle) has been the most typical findingfound in 68-80% of patients.This vein originates from the lateral aspect of the foot and courses upwards along the lateral border of the leg. The vein is usually thick walled and strong, it is located immediately under the skin and it is incompetent along its entire length due to the absence of venous valves.Varicose veins and venous malformations can involve abdominal and pelvic organs. Genitourinary manifestations may present as intrapelvic and retroperitoneal vascular malformations and affect the penis, scrotum, vagina or vulva, and bladder

Answer 159

Takayasu Takayasu's arteritis - Symptoms and causes - Mayo Clinic https://www.mayoclinic.org › syc-20351335 6 Mar 2019 — Takayasu's arteritis (tah-kah-YAH-sooz ahr-tuh-RIE-tis) is a rare type of vasculitis, a group of disorders that cause blood vessel inflammation. In Takayasu's arteritis, the inflammation damages the aorta — the large artery that carries blood from your heart to the rest of your body — and its main branches.

Answer 160

Cogan syndrome Cogan syndrome Dr Daniel J Bell◉ and Dr Yuranga Weerakkody◉ et al. **Cogan syndrome is a rare vasculitis of young adults that is primarily characterised by 1,4,6:** **inflammatory eye disease (classically interstitial keratitis) 6** **audiovestibular dysfunction (similar to Meniere disease) 6** Epidemiology Cogan syndrome is rare and can occur in people of any age and race. It most frequently presents in young adults in their late 20s or early 30s. Clinical presentation Typical Cogan syndrome manifests with interstitial keratitis and audiovestibular symptoms similar to Meniere disease (tinnitus, vertigo, and hearing loss). Auditory symptoms can precede or follow eye disease, usually within two years. Atypical Cogan syndrome presents with other types of inflammatory eye disease (such as uveitis, scleritis, and optic neuritis), audiovestibular symptoms that may not resemble Meniere disease, and longer intervals between the onset of ocular and vestibuloauditory disease. However, this distinction may not carry prognostic significance. A substantial minority of patients also develop systemic vasculitis 7. Common systemic symptoms include headache, arthralgia/arthritis, myalgia, fever, and fatigue. The most characteristic cardiovascular manifestation is aortitis 4. Pathology Aetiology An autoimmune reaction to the eyes and audiovestibular structures has been postulated, possibly triggered by an upper respiratory tract infection. Microscopic appearance Vestibulocochlear structures demonstrate endolymphatic hydrops with the perilymphatic compartments filled with loose fibrous tissue. Radiographic features CT calcific or soft tissue attenuation obliterating the intralabyrinthine fluid spaces 2 MRI T1: high signal in the membranous labyrinth of the inner ear T1 C+ (Gd): enhancement of the membranous labyrinth T2: soft tissue obliteration or narrowing of the intralabyrinthine fluid spaces 2 Treatment and prognosis Treatment consists of immunosuppression, starting with glucocorticoids and adding other immunosuppressive agents depending on the severity of the condition. The course of the disease varies significantly from patient to patient. In some patients, there is an initial flare, which may last several weeks to months. Following this, there may be a slowly progressive course in some patients while others have a course of complete remission with intermittent episodes of disease activity. Life-threatening aortic insufficiency develops in 10% of reported cases. Blindness occurs in less than 5% of patients. Deafness is a frequent and debilitating outcome occurring in up to 54% of patients. History and etymology It was initially described by David Glendenning Cogan (1908-1993), American ophthalmologist, in 1945 5,9. Differential diagnosis The differential consists of inflammatory causes of both eye and inner ear disease: sarcoidosis syphilis Whipple disease rheumatoid arthritis Sjögren syndrome systemic lupus erythematosus systemic vasculitides, such as polyarteritis nodosa and granulomatosis with polyangiitis relapsing polychondritis Behcet syndrome Vogt-Koyanagi-Harada syndrome inflammatory bowel disease The differential for systemic vasculitis affecting large vessels is primarily Takayasu arteritis. Practical points prompt recognition and exclusion of other diseases with similar presentation prompt treatment with glucocorticoids and secondary-line immunosuppressive therapy if not responsive awareness of the development of vasculitis, and particularly aortitis, with associated complications

Answer 161

microscopic polyangitis Microscopic polyangiitis davide giusti and Dr Yuranga Weerakkody◉ et al. Microscopic polyangiitis (MPA) is small vessel non-granulomatous necrotising vasculitis. It most often affects venules, capillaries, arterioles, and small arteries, although it occasionally involves medium-sized arteries. Epidemiology It typically affects middle-aged individuals. Clinical presentation This condition can affect multiple organ systems. Common sites of involvement are: kidneys: necrotising glomerulonephritis (present in ~90% of cases 1) lungs: pulmonary capillaritis skin: purpura gastrointestinal tract Pathology It is histologically very similar to polyarteritis nodosa except for involvement of vessels smaller than arteries (e.g. arterioles, venules, capillaries) There is an absence or paucity of immunoglobulin localisation in vessel walls which distinguishes MPA from immune complex-mediated small vessel vasculitis (e.g. Henoch-Schonlein purpura and cryoglobulinaemic vasculitis) Markers pANCA-positive in a significant (~70-90%) proportion of cases Subtypes Some classify two conditions as organ-specific subsets of this condition 7: lung-isolated idiopathic pauci-immune pulmonary capillaritis kidney-idiopathic pauci-immune rapidly progressive glomerulonephritis (RPGN) Radiographic features Pulmonary involvement There can be a spectrum of findings which typically include pulmonary haemorrhage: diffuse pulmonary haemorrhage: seen in 30-40% of cases 2,3 haemorrhages can be relapsing Other described manifestations (which are non-specific as individual features) include 9: regions of ground-glass attenuation pulmonary consolidation thickening of bronchovascular bundles features of interstitial pneumonitis 12 / pulmonary fibrosis 11 honeycombing traction bronchiectasis Treatment and prognosis Treatment options in severe forms usually include methylprednisolone +/- cyclophosphamide. Other management options include tumour necrosis factor-alpha blockers rituximab, and nonpharmacologic modalities such as plasmapheresis and ventilatory management 9. With treatment, there is often complete remission of the disease in a majority of cases. Differential diagnosis The differential can be broad dependant on the type of manifestations and feature. For lung involvement consider: eosinophilic granulomatosis with polyangiitis: has asthma and eosinophilia granulomatosis with polyangiitis: granulomatous vasculitis can cavitate Goodpasture syndrome circulating antiglomerular basement membrane (anti-GBM) pulmonary haemorrhage (ground glass, airspace opacities and reticular "crazy paving") History and etymology It is thought to have been initially described by Friedrich Wohlwill (1881-1958), a German physician, in 1923 10. See also pulmonary vasculitides

Answer 162

Buergers Buerger disease Dr Daniel J Bell◉ and Radswiki◉ et al. Buerger disease, also known as **thromboangiitis obliterans**, is a chronic, non-atherosclerotic, inflammatory, thrombotic arteritis found predominantly in **young male smokers.** Clinical presentation Patients may initially present with nonspecific symptoms such as hand and foot claudication, which eventually progresses to ischaemic ulceration. A biopsy is often necessary to make the diagnosis because the imaging appearance and symptoms overlap with those of atherosclerosis and other connective tissue diseases. Pathology Although it more commonly affects medium and small vessels of the lower extremities, upper extremity involvement may also be seen. Venous involvement can be seen in 25% of cases. Associations superficial thrombophlebitis 4 Radiographic features Angiography Characteristic angiographic findings include: extensive arterial occlusive disease corkscrew collateral vessels more than one limb is usually affected predominantly the lower limbs intervening normal arteries sparing of the larger inflow vessels Corkscrew collateral vessels are not, however, pathognomonic for Buerger disease as they may be seen in patients with connective tissue disease. Differential diagnosis Imaging differential considerations include: atherosclerosis connective tissue diseases systemic lupus erythematosus (SLE) mixed connective tissue disease scleroderma CREST syndrome rheumatoid arthritis

Answer 163

hypothenar hammer Syndrome Fig. 1. A, Arteriogram of symptomatic hand in a patient with digital artery occlusion (small arrows ) and an abnormal palmar ulnar artery segment (large arrow ). B, Contralateral, asymptomatic hand, which also has an abnormal palmar ulnar artery (arrow ). Abstract Purpose: Finger ischemia caused by embolic occlusion of digital arteries originating from the palmar ulnar artery in a person repetitively striking objects with the heel of the hand has been termed hypothenar hammer syndrome (HHS). Previous reports have attributed the arterial pathology to traumatic injury to normal vessels. A large experience leads us to hypothesize that HHS results from trauma to intrinsically abnormal arteries. Methods: We reviewed the arteriography, histology, and clinical outcome of all patients treated for HHS in a university clinical research center study of hand ischemia, which prospectively enrolled more than 1300 subjects from 1971 to 1998. Results: Twenty-one men had HHS. All had occupational (mechanic, carpenter, etc) or avocational (woodworker) exposure to repetitive palmar trauma. All patients underwent upper-extremity and hand arteriography, unilateral in eight patients (38%) and bilateral in 13 patients (62%). By means of arteriogram, multiple digital artery occlusions were shown in the symptomatic hand, with either segmental ulnar artery occlusion in the palm or characteristic “corkscrew” elongation, with alternating stenoses and ectasia. Similar changes in the contralateral asymptomatic (and less traumatized) hand were shown by means of 12 of 13 bilateral arteriograms (92%). Twenty-one operations, consisting of segmental ulnar artery excision in the palm and vein grafting, were performed on 19 patients. Histology was compatible with fibromuscular dysplasia with superimposed trauma. Patency of arterial repairs at 2 years was 84%. One patient (5%) required amputative debridement of necrotic finger tips. No other tissue loss occurred. There have been no recurrences of ischemia in patients with patent bypass grafts. Conclusion: To our knowledge, this is the largest reported group of HHS patients. The characteristic angiographic appearance, histologic findings, and striking incidence of bilateral abnormalities in patients with unilateral symptoms lead us to conclude that HHS occurs when persons with preexisting palmar ulnar artery fibrodysplasia experience repetitive palmar trauma. This revised theory for the etiology of HHS explains why HHS does not develop in most patients with repetitive palmar trauma. (J Vasc Surg 2000;31:104-13.)

Answer 164

stenosis of innominate

Answer 165

aortic stenosis

Answer 166

aortic regurg

Answer 167

brain death

Answer 168

birds nest filter

Answer 169

anterior medullary (spinal cord) artery

Answer 170

post embolization syndrome (obviously could also be infection)

Answer 171

posterior tibial artery

Answer 172

left gastric artery

Answer 173

spinal cord infarct

Answer 174

transjugular approach

Answer 175

compartment syndrome

Answer 176

steal syndrome

Answer 177

venous stasis

Answer 178

ischemia or infected ulcer

Answer 179

neutropenic ulcer

Answer 180

too much Al in the Tc

Answer 181

WBC scan or octreotide (sulfur colloid will be a warm spleen)

Answer 182

renal osteodystrophy

Answer 183

hemochromatosis

Answer 184

too much Al amyloid hepatoma or liver necrosis

Answer 185

free Tc or bisphosphonate rx

Answer 186

fibrous dysplasia

Answer 187

prosthesis loosening

Answer 188

fatty liver

Answer 189

Quervains (granulomatous thyroiditis)

Answer 190

DTPA (or GH)

Answer 191

diffuse neuroblastoma bone mets

Answer 192

hibernating myocardium

Answer 193

Tc99 and Rubidium

Answer 194

GBM or lymphoma

Answer 195

pilocytic astrocytoma

Answer 196

hemangioblastoma

Answer 197

central neurocytoma

Answer 198

posterior communicating artery aneurysm

Answer 199

increased ICP

Answer 200

Lewy Body dementia

Answer 201

toxoplasmosis

Answer 202

oligodendroglioma

Answer 203

epidermoid

Answer 204

cavernous malformation nearby

Answer 205

capillary telangiectasia

Answer 206

metachromatic leukodystrophy

Answer 207

cholesterol granuloma

Answer 208

cholesteatoma

Answer 209

Gradenigo synddrome

Answer 210

Labyrinthitis

Answer 211

otosclerosis/otospongiosis

Answer 212

superior semicircular canal dehiscence (Tullio phenomenon)

Answer 213

antrochoanal polyp

Answer 214

squamous cell CA (10%)

Answer 215

perineural spread

Answer 216

look in AP window

Answer 217

CHARGE syndrome

Answer 218

retinopathy of prematurity

Answer 219

retinoblastoma

Answer 220

lymphangioma

Answer 221

NF-1 and CC fistula

Answer 222

Currarino triad

Answer 223

B12 (or HIV)

Answer 224

spinal cord infarct

Answer 225

Guillain Barre

Answer 226

capitellum fracture

Answer 227

clear cell chondrosarcoma

Answer 228

clear cell chondrosarcoma

Answer 229

fibrosarcoma

Answer 230

chondroblastoma

Answer 231

pseudopseudohypoparathyroidism and Turners

Answer 232

Hajdu-Cheney

Answer 233

liposarcoma

Answer 234

synovial sarcoma

Answer 235

pathologic fracture

Answer 236

pincer type FAI

Answer 237

fibular head avulsion or PCL tear

Answer 238

chronic steroids

Answer 239

show me proximal fibula (Maisonneuve)

Answer 240

show me spinal compression fracture ("lover's leap")

Answer 241

avulsion of 5th MT

Answer 242

osteomalacia or rickets (vitamin D)

Answer 243

giant cell tumor of tendon sheath (PVNS)

Answer 244

quadrilateral space syndrome

Answer 245

subscapularis tear

Answer 246

discoid meniscus

Answer 247

mucoid degeneration

Answer 248

mucoid degeneration

Answer 249

posterior tibial tendon tear

Answer 250

tear or split tear

Answer 251

anterolateral impingement syndrome

Answer 252

Morton neuroma

Answer 253

IV drug user

Answer 254

TB - sloughed synovium

Answer 255

myositis ossificans

Answer 256

osteosarcoma - reverse zoning

Answer 257

fibrous dysplasia

Answer 258

osteoid osteoma

Answer 259

chondroblastoma

Answer 260

periosteal chondroma

Answer 261

osteofibrous dysplasia

Answer 262

Caplan syndrome

Answer 263

Felty syndrome

Answer 264

JRA (or hemophilia)

Answer 265

edema (CHF)

Answer 266

secretory calcs

Answer 267

secretory calcs

Answer 268

degenerated fibroadenoma

Answer 269

galactocele

Answer 270

inflammatory breast CA

Answer 271

architectural distortion

Answer 272

IDC + DCIS

Answer 273

intracapsular rupture on US

Answer 274

intracapsular rupture on MRI

Answer 275

local recurrence

Answer 276

milk of calcium (requires polarized light to be seen)

Answer 277

PHACES Syndrome

Answer 278

Cutaneous Hemangioma PHACE syndrome, also known as cutaneous haemangioma–vascular complex syndrome or Pascual-Castroviejo type II syndrome, is a phakomatosis that comprises of: * P: posterior fossa malformations (e.g. Dandy-Walker malformation) * H: haemangiomas * A: arterial anomalies * C: coarctation of the aorta and cardiac anomalies * E: eye (ocular) anomalies * When sternal clefting and/or supraumbilical raphe are also present it is termed PHACES syndrome. * Clinical presentation * Clinical diagnosis of PHACE syndrome requires the presence of a characteristic segmental haemangioma or haemangioma \>5 cm on the head (face or scalp) plus 1 major criterion or 2 minor criteria 5. Major criteria: * cerebrovascular: * anomaly of major cerebral arteries * dysplasia of the large cerebral arteries * arterial stenosis or occlusion with or without moyamoya collaterals * absence or moderate-severe hypoplasia of the large cerebral arteries * aberrant origin or course of the large cerebral arteries * persistent trigeminal artery * saccular aneurysms of any cerebral arteries brain: posterior fossa anomalies * Dandy-Walker complex * cerebellar hypoplasia/dysplasia ocular: posterior segment anomalies * persistent fetal vasculature * retinal vascular anomalies * morning glory disc anomaly * optic nerve hypoplasia * peripapillary staphyloma * coloboma cardiovascular: * aortic arch anomaly * aberrant course or origin of supra-aortic arteries * ventral or midline: sternal defects or supraumbilical raphe Minor criteria: * cerebrovascular: persistent embryonic artery (carotid-vertebrobasilar anastomosis) other than trigeminal artery brain: * extra-axial intracranial haemangioma midline anomaly * neuronal migration disorder ocular: anterior segment anomalies * sclerocornea * cataract * coloboma * microphthalmia cardiovascular: * ventricular septal defect * right aortic arch ventral or midline: * hypopituitarism * ectopic thyroid Historic and etymology * Initially, this syndrome was described as an association of large cutaneous haemangiomas of the head and anomalies of the cerebral vasculature by Pascual-Castroviejo in 1978 7,8. Subsequently, the name PHACE syndrome was coined by Ilona Frieden et al 2.

Answer 279

Meconium Aspiration Meconium aspiration occurs secondary to intrapartum or intrauterine aspiration of meconium, usually in the setting of fetal distress, often in term or post-term infants. Epidemiology Up to 10-15% of live births after 34 weeks can present with meconium stained fluid but only 1-5% of neonates develop meconium aspiration. There is no gender predilection. Clinical presentation There is commonly a history of meconium stained fluid at birth. Depending on the length of exposure, meconium skin staining may be present. Neonates typically present with respiratory distress and varying degrees of hypoxia. Wheezing, hypercarbia and cyanosis may develop depending on the severity of the condition. Pathology Aspirated meconium can cause small airways obstruction and a chemical pneumonitis. Radiographic features Plain radiograph increased lung volumes hyperinflated lungs with flattened hemidiaphragms secondary to distal small airway obstruction and gas trapping asymmetric patchy pulmonary opacities due to subsegmental atelectasis may be 'rope like' pleural effusions can be seen pneumothorax or pneumomediastinum in 20-40% of cases due to increased alveolar tension from obstructed airways multifocal consolidation due to chemical pneumonitis Treatment and prognosis Treatment usually involves suction of secretions and intubation and ventilation. Mortality can be as high as 10-20% in those with resulting severe pulmonary parenchymal disease.

Answer 280

Meconium aspiration

Answer 281

B-Hemolytic Strep

Answer 282

Chronic lung disease/Bronchopulmonary dysplasia Bronchopulmonary dysplasia Dr Milo MacBain◈ and Dr Yuranga Weerakkody◉ et al. Bronchopulmonary dysplasia (BPD) refers to late pathological lung changes that develop in infants after several weeks on prolonged ventilation. Terminology BPD and chronic lung disease of prematurity (CLDP) have often been used interchangeably to describe the condition post-treatment of premature infants for respiratory distress syndrome. However, some suggest that there are different underlying pathogeneses and that CLDP encompasses other conditions besides BPD 12,13. Pathology It is the result of a paradoxical combination of hypoxia and oxygen toxicity. There is initial capillary wall damage, interstitial fluid seepage and ensuing pulmonary oedema, which is followed by loss of ciliated epithelium and bronchiolar mucosal necrosis. Areas of both hyperexpansion and atelectasis are seen. This is followed by eosinophilic exudate and squamous metaplasia and may ultimately lead to interstitial fibrosis/fibro-proliferative bronchiolitis. Radiographic features Plain radiograph ill-defined reticular markings with interspersed rounded lucent areas diffusely involving hyperinflated lungs the lungs may have relatively normal AP diameter on the lateral film presence of cardiomegaly may indicate the development of pulmonary hypertension in chronic cases, the lateral film may show a much narrower AP diameter compared with the chest width on the frontal film CT mosaic lung parenchymal pattern with areas of low attenuation and focal air trapping on expiratory HRCT (considered the most sensitive finding for predicting severity) bronchial wall thickening (considered the most frequent finding) small subpleural triangular/linear opacities Bronchiectatic changes are usually not considered a feature 4. Treatment and prognosis Infants who survive neonatal bronchopulmonary dysplasia often show a slow but continuous improvement in respiratory status. Young adult survivors who have had moderate and severe bronchopulmonary dysplasia may have residual functional and characteristic structural pulmonary abnormalities; of these, the most notable is pulmonary emphysema 7. Differential diagnosis General imaging differential considerations include: * pulmonary interstitial emphysema (has an acute course) * neonatal pneumonia * Wilson-Mikity syndrome

Answer 283

Pulmonary interstitial emphysema Bronchopulmonary dysplasia Dr Milo MacBain◈ and Dr Yuranga Weerakkody◉ et al. Bronchopulmonary dysplasia (BPD) refers to late pathological lung changes that develop in infants after several weeks on prolonged ventilation. Terminology BPD and chronic lung disease of prematurity (CLDP) have often been used interchangeably to describe the condition post-treatment of premature infants for respiratory distress syndrome. However, some suggest that there are different underlying pathogeneses and that CLDP encompasses other conditions besides BPD 12,13. Pathology It is the result of a paradoxical combination of hypoxia and oxygen toxicity. There is initial capillary wall damage, interstitial fluid seepage and ensuing pulmonary oedema, which is followed by loss of ciliated epithelium and bronchiolar mucosal necrosis. Areas of both hyperexpansion and atelectasis are seen. This is followed by eosinophilic exudate and squamous metaplasia and may ultimately lead to interstitial fibrosis/fibro-proliferative bronchiolitis. Radiographic features Plain radiograph ill-defined reticular markings with interspersed rounded lucent areas diffusely involving hyperinflated lungs the lungs may have relatively normal AP diameter on the lateral film presence of cardiomegaly may indicate the development of pulmonary hypertension in chronic cases, the lateral film may show a much narrower AP diameter compared with the chest width on the frontal film CT mosaic lung parenchymal pattern with areas of low attenuation and focal air trapping on expiratory HRCT (considered the most sensitive finding for predicting severity) bronchial wall thickening (considered the most frequent finding) small subpleural triangular/linear opacities Bronchiectatic changes are usually not considered a feature 4. Treatment and prognosis Infants who survive neonatal bronchopulmonary dysplasia often show a slow but continuous improvement in respiratory status. Young adult survivors who have had moderate and severe bronchopulmonary dysplasia may have residual functional and characteristic structural pulmonary abnormalities; of these, the most notable is pulmonary emphysema 7. Differential diagnosis General imaging differential considerations include: pulmonary interstitial emphysema (has an acute course) neonatal pneumonia Wilson-Mikity syndrome

Answer 284

LCH or papillomatosis **Case 1 LCH** Pulmonary Langerhans cell histiocytosis Dr Joachim Feger◉ and Dr Vinod G Maller et al. Pulmonary Langerhans cell histiocytosis (PLCH) may be seen as part of widespread involvement in patients with disseminated Langerhans cell histiocytosis or more frequently as a distinct entity in young adult smokers. This article focuses on the latter. Epidemiology Pulmonary Langerhans cell histiocytosis is usually identified in young adults (20-40 years of age). A history of current or previous cigarette smoking is identified in up to 95% of cases 1,4. It is a rare disorder with no well-established gender predilection, which appears to be more common in Caucasian populations 4. Associations * Haematopoietic neoplasms: * acute lymphoblastic leukaemia (ALL) 11,12 * acute myeloid leukaemia (AML) 10 Clinical presentation Presentation is usually with dyspnoea or non-productive cough. Other symptoms include constitutional symptoms (fatigue and weight loss), pleuritic chest pain, or spontaneous pneumothorax 1,4. Up to a quarter of patients are asymptomatic. Pathology Langerhans cells proliferate in the bronchiolar and bronchial epithelium, forming granulomas. It is postulated that as these cellular granulomas evolve, peripheral fibrosis forms resulting in traction on the central bronchiole which becomes cyst-like 3. This explains the presumed evolution from a nodule, through cavitating nodule and thick-walled cysts, to the 'stable' thin-walled cysts 3,4. An immune-mediated mechanism has been postulated, although an inciting agent has not been isolated 4. This proliferation is accompanied by inflammation and granuloma formation. Electron microscopy may reveal characteristic Birbeck granules 1,2. More recent evidence suggests that pulmonary Langerhans cell histiocytosis represents a myeloid neoplasm with inflammatory properties 9. Radiographic features * Pulmonary Langerhans cell histiocytosis has variable appearance depending on the stage of the disease, ranging from small peribronchiolar nodular opacities to multiple irregularly-shaped cysts. There is a mid and upper zone predilection 1,3,4. Plain radiograph * The earliest change is a diffuse bilateral symmetrical reticulonodular pattern with a predilection for the mid and upper zones. The ill-defined nodules range from 1-10 mm in size. Later, cyst formation may be seen or may mimic a honeycomb appearance due to a summation of air-filled cysts. Cysts can be identified in only 1-15% of cases 1, and range from 1-3 cm in diameter. There is a preservation of lung volumes or even hyperinflation 1,3,4. Reduced lung volumes are uncommon and only seen in end-stage fibrotic cases 4. Lymph node enlargement visible on chest x-rays is rare 4. CT * As is usually the case, CT and especially HRCT is superior to plain chest radiography in identifying both the reticulonodular opacities and cysts 1,3,4. Distribution is the key in differentiating pulmonary Langerhans cell histiocytosis from other cystic lung diseases with a predilection for the mid and upper zones and regional sparing of the costophrenic recesses, anterior right middle lobe and lingula left upper lobe 1,3,4. * nodules * more pronounced early in the disease * may range in number from a few to innumerable * 1-10 mm in diameter (typically 1-5 mm 4) * centrilobular distribution - may also be peribronchial or peribronchiolar * usually have irregular margins * may be cavitary nodules with thick walls, later becoming cysts * surrounding lung parenchyma appears normal * cysts * more pronounced later in the disease * usually less than 10 mm in diameter * may measure up to 2-3 centimetres in size * the extreme bases may be preserved * usually thin-walled, but on occasion may be up to a few millimetres thick * confluence of 2 or more cysts results in bizarre shapes * bilobed * cloverleaf * branching * internal septations * Other common findings include 1,3: * ground-glass and/or reticular opacities * DIP-like change 1 * mosaic attenuation * septal line thickening * emphysema * In late disease, other findings include: * coalescent cysts * fibrosis * honeycombing The appearance of new nodules later in the disease (when cystic change is established) indicates disease progression but is a rare finding 3. Treatment and prognosis * Overall prognosis is generally good with over 50% of patients demonstrating spontaneous resolution or stabilisation even without treatment 3. This is especially the case in patients who stop smoking. * In a minority of patients (~20%) and more frequently in those who continue to smoke, the disease is progressive with deterioration in respiratory function and eventual end-stage pulmonary fibrosis 3. * Treatment may not be required once smoking has ceased. Corticosteroids are frequently used and appear beneficial. In patients with rapidly progressive disease, no proven therapy has been found. In some selected patients lung transplantation may be an option, provided smoking has ceased. Recurrence in the transplanted lung has been described 4. Complications * cyst rupture * spontaneous pneumothorax: may be the first presentation * pneumomediastinum * interstitial fibrosis * pulmonary arterial hypertension and cor pulmonale * end-stage pulmonary fibrosis and respiratory failure Differential diagnosis * Differential depends on whether the nodular or cystic change is the dominant feature. * Early in the disease, when nodules are the dominant feature, consider: * granulomatous disease * granulomatosis with polyangiitis * sarcoidosis * metastases * miliary tuberculosis * See differential of multiple pulmonary nodules and differential of miliary opacities for more comprehensive lists. * Later in the disease, when cysts are prominent, consider: * lymphangiomyomatosis (LAM) * diffuse distribution * regular shaped and sized cysts * cystic bronchiectasis from ABPA * central distribution * mucous plugging * centrilobular emphysema * lack of visible cyst wall 1-3 * Pneumocystis jiroveci pneumonia * idiopathic pulmonary fibrosis * basal and subpleural distribution * reduced lung volumes * lymphocytic interstitial pneumonitis (LIP) * smooth-walled simple cysts * associated with autoimmune disease **Papilomatosis Case 2 Key messages** Extra laryngeal spread in patients with recurrent respiratory papillomatosis is rare. The radiographic features of respiratory papillomatosis are solid or cystic nodules predominantly in the lower lobes, tracheal wall irregularity due to scars and papillomas and bronchiectasis from obstruction and secondary infection. Clinicians should suspect malignant transformation when growth of a pulmonary nodule or mass is detected by serial x-ray or CT.

Answer 285

primary ciliary dyskinesia

Answer 286

Diaphragmatic hernia

Answer 287

Neuroblastoma

Answer 288

Oesophageal atresia

Answer 289

H type TE fistula

Answer 290

Pulmonary sling

Answer 291

tracheal stenosis

Answer 292

Gastric (antral or pyloric) atresia

Answer 293

Duodenal atresia

Answer 294

Downs syndrome

Answer 295

Maybe mid gut volvulus

Answer 296

Pyloric stenosis

Answer 297

Pyloric stenosis

Answer 298

mid gut volvulus

Answer 299

Malrotation

Answer 300

biliary atresia

Answer 301

biliary atresia

Answer 302

Hirschprungs Barium enema demonstrates a reduced calibre rectum and sigmoid (the rectum is smaller than the descending colon) with a saw-tooth appearance to the wall. A transition point is seen at the junction between sigmoid and descending colon.

Answer 303

Cyanotic heart disease

Answer 304

Sickle cell

Answer 305

Sickle Cell

Answer 306

Colonic atresia

Answer 307

meconium ileus or distal ileal atresia

Answer 308

meconium peritonitis

Answer 309

distal intestinal obstruction syndrome (CF)

Answer 310

hepatic hemangioendothelioma Infantile hepatic haemangioma Dr Ammar Haouimi◉ and Radswiki◉ et al. Infantile hepatic haemangiomas (IHH) are liver lesions composed of large endothelial-lined vascular channels seen in fetuses and neonates. Not to be confused with hepatic epithelioid haemangioendothelioma, which occurs in older patients. Terminology These benign tumours were previously referred to as hepatic infantile haemangioendotheliomas, but as they are similar to haemangiomas elsewhere in the body, they have been reclassified as haemangiomas by the International Society for the Study of Vascular Anomalies (ISSVA). Epidemiology Infantile hepatic haemangiomas occur in fetuses and neonates and have been detected in utero as early as at 16 weeks of gestation. It is the most frequent liver mass in infants (\<6 months). Clinical presentation Infantile hepatic haemangiomas have substantial arteriovenous shunting which may lead to fatal cardiovascular compromise and hydrops fetalis. It may present as hepatomegaly since the entire liver is involved in most cases. In addition, fetuses may also develop haemolytic anaemia, thrombocytopenia, and consumptive coagulopathy (Kasabach-Merritt sequence). If these tumours are not detected prenatally, neonates may present with unexplained congestive heart failure. Pathology Infantile hepatic haemangiomas are histologically similar to haemangiomas (strawberry naevus) but distinct from both adult type cavernous haemangiomas which are venous malformations and angiosarcomas. Markers In 3% of cases, there is elevated serum alpha-fetoprotein 6. Associations hypothyroidism: probably due to high levels of type 3-iodothyronine deiodinase activity produced by haemangiomas 3 haemangiomas elsewhere in 10% of cases Radiographic features Plain radiograph Non-specific features such as hepatomegaly and liver calcifications, present in ~15% of the cases, may be seen. Indirect signs of congestive heart failure may be present on a chest radiograph. Ultrasound Infantile hepatic haemangiomas have a variable sonographic appearance and can be either hypoechoic or hyperechoic or may display mixed echogenicity with prominent vascular channels. Colour Doppler sonographic evaluation will show increased flow. CT There is typical peripheral enhancement with gradual filling-in. Another characteristic finding is a reduction in the aortic calibre (mid-aortic syndrome) distal to the level of the coeliac axis because of the important vascular distribution toward the liver. The same process will cause coeliac trunk and hepatic artery hypertrophy. MRI Multifocal haemangiomas are spherical lesions with homogeneous signal intensity on MRI. Large flow voids are usually present. Typical signal characteristics include: T1: hypointense 3 T2: hyperintense 3 They generally demonstrate uniform enhancement and may demonstrate the same vascular changes as seen on CT. Treatment and prognosis The natural history of infantile hepatic haemangiomas in infancy is a rapid, proliferative growth phase in the first six months of life, followed by regression and involution. If the child remains asymptomatic, no treatment may be needed. If symptoms of high output cardiac failure occur, the first line of therapy is propranolol. If medical treatment fails, the lesions may be embolised to control any arteriovenous shunting causing cardiac failure. Differential diagnosis hepatoblastoma elevated alpha-fetoprotein not common in neonates neuroblastoma metastasis: usually multiple mesenchymal hamartoma (usually seen as multilocular cystic mass) 7,8 References

Answer 311

Heyde syndrome refers to a triad of aortic stenosis, acquired type IIA von Willebrand syndrome and recurrent bleeding from gastrointestinal angiodysplasia https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4732965/ The association between chronic gastrointestinal bleeding due to angiodysplasia and calcific aortic stenosis was first described in 1958 by Edward Heyde and has since been termed Heyde syndrome. Not until 1992 did Warkentin and colleagues elucidate the role of acquired coagulopathy (depletion of high-molecular-weight multimers of von Willebrand factor) in the pathogenesis of Heyde syndrome (historical sources listed in Appendix 1, available at www.cmaj.ca/lookup/suppl/doi:10.1503/cmaj.150194/-/DC1). Although there is no consensus definition, many authors affirm that Heyde syndrome refers to a triad of aortic stenosis, acquired type IIA von Willebrand syndrome and recurrent bleeding from gastrointestinal angiodysplasia (Figure 2).1–5

Answer 312

PHACES Syndrome

Answer 313

Cutaneous Hemangioma PHACE syndrome, also known as cutaneous haemangioma–vascular complex syndrome or Pascual-Castroviejo type II syndrome, is a phakomatosis that comprises of: * P: posterior fossa malformations (e.g. Dandy-Walker malformation) * H: haemangiomas * A: arterial anomalies * C: coarctation of the aorta and cardiac anomalies * E: eye (ocular) anomalies * When sternal clefting and/or supraumbilical raphe are also present it is termed PHACES syndrome. * Clinical presentation * Clinical diagnosis of PHACE syndrome requires the presence of a characteristic segmental haemangioma or haemangioma \>5 cm on the head (face or scalp) plus 1 major criterion or 2 minor criteria 5. Major criteria: * cerebrovascular: * anomaly of major cerebral arteries * dysplasia of the large cerebral arteries * arterial stenosis or occlusion with or without moyamoya collaterals * absence or moderate-severe hypoplasia of the large cerebral arteries * aberrant origin or course of the large cerebral arteries * persistent trigeminal artery * saccular aneurysms of any cerebral arteries brain: posterior fossa anomalies * Dandy-Walker complex * cerebellar hypoplasia/dysplasia ocular: posterior segment anomalies * persistent fetal vasculature * retinal vascular anomalies * morning glory disc anomaly * optic nerve hypoplasia * peripapillary staphyloma * coloboma cardiovascular: * aortic arch anomaly * aberrant course or origin of supra-aortic arteries * ventral or midline: sternal defects or supraumbilical raphe Minor criteria: * cerebrovascular: persistent embryonic artery (carotid-vertebrobasilar anastomosis) other than trigeminal artery brain: * extra-axial intracranial haemangioma midline anomaly * neuronal migration disorder ocular: anterior segment anomalies * sclerocornea * cataract * coloboma * microphthalmia cardiovascular: * ventricular septal defect * right aortic arch ventral or midline: * hypopituitarism * ectopic thyroid Historic and etymology * Initially, this syndrome was described as an association of large cutaneous haemangiomas of the head and anomalies of the cerebral vasculature by Pascual-Castroviejo in 1978 7,8. Subsequently, the name PHACE syndrome was coined by Ilona Frieden et al 2.

Answer 314

Meconium Aspiration Meconium aspiration occurs secondary to intrapartum or intrauterine aspiration of meconium, usually in the setting of fetal distress, often in term or post-term infants. Epidemiology Up to 10-15% of live births after 34 weeks can present with meconium stained fluid but only 1-5% of neonates develop meconium aspiration. There is no gender predilection. Clinical presentation There is commonly a history of meconium stained fluid at birth. Depending on the length of exposure, meconium skin staining may be present. Neonates typically present with respiratory distress and varying degrees of hypoxia. Wheezing, hypercarbia and cyanosis may develop depending on the severity of the condition. Pathology Aspirated meconium can cause small airways obstruction and a chemical pneumonitis. Radiographic features Plain radiograph increased lung volumes hyperinflated lungs with flattened hemidiaphragms secondary to distal small airway obstruction and gas trapping asymmetric patchy pulmonary opacities due to subsegmental atelectasis may be 'rope like' pleural effusions can be seen pneumothorax or pneumomediastinum in 20-40% of cases due to increased alveolar tension from obstructed airways multifocal consolidation due to chemical pneumonitis Treatment and prognosis Treatment usually involves suction of secretions and intubation and ventilation. Mortality can be as high as 10-20% in those with resulting severe pulmonary parenchymal disease.

Answer 315

Meconium aspiration

Answer 316

B-Hemolytic Strep

Answer 317

Chronic lung disease/Bronchopulmonary dysplasia Bronchopulmonary dysplasia Dr Milo MacBain◈ and Dr Yuranga Weerakkody◉ et al. Bronchopulmonary dysplasia (BPD) refers to late pathological lung changes that develop in infants after several weeks on prolonged ventilation. Terminology BPD and chronic lung disease of prematurity (CLDP) have often been used interchangeably to describe the condition post-treatment of premature infants for respiratory distress syndrome. However, some suggest that there are different underlying pathogeneses and that CLDP encompasses other conditions besides BPD 12,13. Pathology It is the result of a paradoxical combination of hypoxia and oxygen toxicity. There is initial capillary wall damage, interstitial fluid seepage and ensuing pulmonary oedema, which is followed by loss of ciliated epithelium and bronchiolar mucosal necrosis. Areas of both hyperexpansion and atelectasis are seen. This is followed by eosinophilic exudate and squamous metaplasia and may ultimately lead to interstitial fibrosis/fibro-proliferative bronchiolitis. Radiographic features Plain radiograph ill-defined reticular markings with interspersed rounded lucent areas diffusely involving hyperinflated lungs the lungs may have relatively normal AP diameter on the lateral film presence of cardiomegaly may indicate the development of pulmonary hypertension in chronic cases, the lateral film may show a much narrower AP diameter compared with the chest width on the frontal film CT mosaic lung parenchymal pattern with areas of low attenuation and focal air trapping on expiratory HRCT (considered the most sensitive finding for predicting severity) bronchial wall thickening (considered the most frequent finding) small subpleural triangular/linear opacities Bronchiectatic changes are usually not considered a feature 4. Treatment and prognosis Infants who survive neonatal bronchopulmonary dysplasia often show a slow but continuous improvement in respiratory status. Young adult survivors who have had moderate and severe bronchopulmonary dysplasia may have residual functional and characteristic structural pulmonary abnormalities; of these, the most notable is pulmonary emphysema 7. Differential diagnosis General imaging differential considerations include: * pulmonary interstitial emphysema (has an acute course) * neonatal pneumonia * Wilson-Mikity syndrome

Answer 318

Pulmonary interstitial emphysema Bronchopulmonary dysplasia Dr Milo MacBain◈ and Dr Yuranga Weerakkody◉ et al. Bronchopulmonary dysplasia (BPD) refers to late pathological lung changes that develop in infants after several weeks on prolonged ventilation. Terminology BPD and chronic lung disease of prematurity (CLDP) have often been used interchangeably to describe the condition post-treatment of premature infants for respiratory distress syndrome. However, some suggest that there are different underlying pathogeneses and that CLDP encompasses other conditions besides BPD 12,13. Pathology It is the result of a paradoxical combination of hypoxia and oxygen toxicity. There is initial capillary wall damage, interstitial fluid seepage and ensuing pulmonary oedema, which is followed by loss of ciliated epithelium and bronchiolar mucosal necrosis. Areas of both hyperexpansion and atelectasis are seen. This is followed by eosinophilic exudate and squamous metaplasia and may ultimately lead to interstitial fibrosis/fibro-proliferative bronchiolitis. Radiographic features Plain radiograph ill-defined reticular markings with interspersed rounded lucent areas diffusely involving hyperinflated lungs the lungs may have relatively normal AP diameter on the lateral film presence of cardiomegaly may indicate the development of pulmonary hypertension in chronic cases, the lateral film may show a much narrower AP diameter compared with the chest width on the frontal film CT mosaic lung parenchymal pattern with areas of low attenuation and focal air trapping on expiratory HRCT (considered the most sensitive finding for predicting severity) bronchial wall thickening (considered the most frequent finding) small subpleural triangular/linear opacities Bronchiectatic changes are usually not considered a feature 4. Treatment and prognosis Infants who survive neonatal bronchopulmonary dysplasia often show a slow but continuous improvement in respiratory status. Young adult survivors who have had moderate and severe bronchopulmonary dysplasia may have residual functional and characteristic structural pulmonary abnormalities; of these, the most notable is pulmonary emphysema 7. Differential diagnosis General imaging differential considerations include: pulmonary interstitial emphysema (has an acute course) neonatal pneumonia Wilson-Mikity syndrome

Answer 319

LCH or papillomatosis **Case 1 LCH** Pulmonary Langerhans cell histiocytosis Dr Joachim Feger◉ and Dr Vinod G Maller et al. Pulmonary Langerhans cell histiocytosis (PLCH) may be seen as part of widespread involvement in patients with disseminated Langerhans cell histiocytosis or more frequently as a distinct entity in young adult smokers. This article focuses on the latter. Epidemiology Pulmonary Langerhans cell histiocytosis is usually identified in young adults (20-40 years of age). A history of current or previous cigarette smoking is identified in up to 95% of cases 1,4. It is a rare disorder with no well-established gender predilection, which appears to be more common in Caucasian populations 4. Associations * Haematopoietic neoplasms: * acute lymphoblastic leukaemia (ALL) 11,12 * acute myeloid leukaemia (AML) 10 Clinical presentation Presentation is usually with dyspnoea or non-productive cough. Other symptoms include constitutional symptoms (fatigue and weight loss), pleuritic chest pain, or spontaneous pneumothorax 1,4. Up to a quarter of patients are asymptomatic. Pathology Langerhans cells proliferate in the bronchiolar and bronchial epithelium, forming granulomas. It is postulated that as these cellular granulomas evolve, peripheral fibrosis forms resulting in traction on the central bronchiole which becomes cyst-like 3. This explains the presumed evolution from a nodule, through cavitating nodule and thick-walled cysts, to the 'stable' thin-walled cysts 3,4. An immune-mediated mechanism has been postulated, although an inciting agent has not been isolated 4. This proliferation is accompanied by inflammation and granuloma formation. Electron microscopy may reveal characteristic Birbeck granules 1,2. More recent evidence suggests that pulmonary Langerhans cell histiocytosis represents a myeloid neoplasm with inflammatory properties 9. Radiographic features * Pulmonary Langerhans cell histiocytosis has variable appearance depending on the stage of the disease, ranging from small peribronchiolar nodular opacities to multiple irregularly-shaped cysts. There is a mid and upper zone predilection 1,3,4. Plain radiograph * The earliest change is a diffuse bilateral symmetrical reticulonodular pattern with a predilection for the mid and upper zones. The ill-defined nodules range from 1-10 mm in size. Later, cyst formation may be seen or may mimic a honeycomb appearance due to a summation of air-filled cysts. Cysts can be identified in only 1-15% of cases 1, and range from 1-3 cm in diameter. There is a preservation of lung volumes or even hyperinflation 1,3,4. Reduced lung volumes are uncommon and only seen in end-stage fibrotic cases 4. Lymph node enlargement visible on chest x-rays is rare 4. CT * As is usually the case, CT and especially HRCT is superior to plain chest radiography in identifying both the reticulonodular opacities and cysts 1,3,4. Distribution is the key in differentiating pulmonary Langerhans cell histiocytosis from other cystic lung diseases with a predilection for the mid and upper zones and regional sparing of the costophrenic recesses, anterior right middle lobe and lingula left upper lobe 1,3,4. * nodules * more pronounced early in the disease * may range in number from a few to innumerable * 1-10 mm in diameter (typically 1-5 mm 4) * centrilobular distribution - may also be peribronchial or peribronchiolar * usually have irregular margins * may be cavitary nodules with thick walls, later becoming cysts * surrounding lung parenchyma appears normal * cysts * more pronounced later in the disease * usually less than 10 mm in diameter * may measure up to 2-3 centimetres in size * the extreme bases may be preserved * usually thin-walled, but on occasion may be up to a few millimetres thick * confluence of 2 or more cysts results in bizarre shapes * bilobed * cloverleaf * branching * internal septations * Other common findings include 1,3: * ground-glass and/or reticular opacities * DIP-like change 1 * mosaic attenuation * septal line thickening * emphysema * In late disease, other findings include: * coalescent cysts * fibrosis * honeycombing The appearance of new nodules later in the disease (when cystic change is established) indicates disease progression but is a rare finding 3. Treatment and prognosis * Overall prognosis is generally good with over 50% of patients demonstrating spontaneous resolution or stabilisation even without treatment 3. This is especially the case in patients who stop smoking. * In a minority of patients (~20%) and more frequently in those who continue to smoke, the disease is progressive with deterioration in respiratory function and eventual end-stage pulmonary fibrosis 3. * Treatment may not be required once smoking has ceased. Corticosteroids are frequently used and appear beneficial. In patients with rapidly progressive disease, no proven therapy has been found. In some selected patients lung transplantation may be an option, provided smoking has ceased. Recurrence in the transplanted lung has been described 4. Complications * cyst rupture * spontaneous pneumothorax: may be the first presentation * pneumomediastinum * interstitial fibrosis * pulmonary arterial hypertension and cor pulmonale * end-stage pulmonary fibrosis and respiratory failure Differential diagnosis * Differential depends on whether the nodular or cystic change is the dominant feature. * Early in the disease, when nodules are the dominant feature, consider: * granulomatous disease * granulomatosis with polyangiitis * sarcoidosis * metastases * miliary tuberculosis * See differential of multiple pulmonary nodules and differential of miliary opacities for more comprehensive lists. * Later in the disease, when cysts are prominent, consider: * lymphangiomyomatosis (LAM) * diffuse distribution * regular shaped and sized cysts * cystic bronchiectasis from ABPA * central distribution * mucous plugging * centrilobular emphysema * lack of visible cyst wall 1-3 * Pneumocystis jiroveci pneumonia * idiopathic pulmonary fibrosis * basal and subpleural distribution * reduced lung volumes * lymphocytic interstitial pneumonitis (LIP) * smooth-walled simple cysts * associated with autoimmune disease **Papilomatosis Case 2 Key messages** Extra laryngeal spread in patients with recurrent respiratory papillomatosis is rare. The radiographic features of respiratory papillomatosis are solid or cystic nodules predominantly in the lower lobes, tracheal wall irregularity due to scars and papillomas and bronchiectasis from obstruction and secondary infection. Clinicians should suspect malignant transformation when growth of a pulmonary nodule or mass is detected by serial x-ray or CT.

Answer 320

primary ciliary dyskinesia

Answer 321

Diaphragmatic hernia

Answer 322

Neuroblastoma

Answer 323

Oesophageal atresia

Answer 324

H type TE fistula

Answer 325

Pulmonary sling

Answer 326

tracheal stenosis

Answer 327

Gastric (antral or pyloric) atresia

Answer 328

Duodenal atresia

Answer 329

Downs syndrome

Answer 330

Maybe mid gut volvulus

Answer 331

Pyloric stenosis

Answer 332

Pyloric stenosis

Answer 333

mid gut volvulus

Answer 334

Malrotation

Answer 335

biliary atresia

Answer 336

biliary atresia

Answer 337

Hirschprungs Barium enema demonstrates a reduced calibre rectum and sigmoid (the rectum is smaller than the descending colon) with a saw-tooth appearance to the wall. A transition point is seen at the junction between sigmoid and descending colon.

Answer 338

Cyanotic heart disease

Answer 339

Sickle cell

Answer 340

Sickle Cell

Answer 341

Colonic atresia

Answer 342

meconium ileus or distal ileal atresia

Answer 343

meconium peritonitis

Answer 344

distal intestinal obstruction syndrome (CF)

Answer 345

hepatic hemangioendothelioma Infantile hepatic haemangioma Dr Ammar Haouimi◉ and Radswiki◉ et al. Infantile hepatic haemangiomas (IHH) are liver lesions composed of large endothelial-lined vascular channels seen in fetuses and neonates. Not to be confused with hepatic epithelioid haemangioendothelioma, which occurs in older patients. Terminology These benign tumours were previously referred to as hepatic infantile haemangioendotheliomas, but as they are similar to haemangiomas elsewhere in the body, they have been reclassified as haemangiomas by the International Society for the Study of Vascular Anomalies (ISSVA). Epidemiology Infantile hepatic haemangiomas occur in fetuses and neonates and have been detected in utero as early as at 16 weeks of gestation. It is the most frequent liver mass in infants (\<6 months). Clinical presentation Infantile hepatic haemangiomas have substantial arteriovenous shunting which may lead to fatal cardiovascular compromise and hydrops fetalis. It may present as hepatomegaly since the entire liver is involved in most cases. In addition, fetuses may also develop haemolytic anaemia, thrombocytopenia, and consumptive coagulopathy (Kasabach-Merritt sequence). If these tumours are not detected prenatally, neonates may present with unexplained congestive heart failure. Pathology Infantile hepatic haemangiomas are histologically similar to haemangiomas (strawberry naevus) but distinct from both adult type cavernous haemangiomas which are venous malformations and angiosarcomas. Markers In 3% of cases, there is elevated serum alpha-fetoprotein 6. Associations hypothyroidism: probably due to high levels of type 3-iodothyronine deiodinase activity produced by haemangiomas 3 haemangiomas elsewhere in 10% of cases Radiographic features Plain radiograph Non-specific features such as hepatomegaly and liver calcifications, present in ~15% of the cases, may be seen. Indirect signs of congestive heart failure may be present on a chest radiograph. Ultrasound Infantile hepatic haemangiomas have a variable sonographic appearance and can be either hypoechoic or hyperechoic or may display mixed echogenicity with prominent vascular channels. Colour Doppler sonographic evaluation will show increased flow. CT There is typical peripheral enhancement with gradual filling-in. Another characteristic finding is a reduction in the aortic calibre (mid-aortic syndrome) distal to the level of the coeliac axis because of the important vascular distribution toward the liver. The same process will cause coeliac trunk and hepatic artery hypertrophy. MRI Multifocal haemangiomas are spherical lesions with homogeneous signal intensity on MRI. Large flow voids are usually present. Typical signal characteristics include: T1: hypointense 3 T2: hyperintense 3 They generally demonstrate uniform enhancement and may demonstrate the same vascular changes as seen on CT. Treatment and prognosis The natural history of infantile hepatic haemangiomas in infancy is a rapid, proliferative growth phase in the first six months of life, followed by regression and involution. If the child remains asymptomatic, no treatment may be needed. If symptoms of high output cardiac failure occur, the first line of therapy is propranolol. If medical treatment fails, the lesions may be embolised to control any arteriovenous shunting causing cardiac failure. Differential diagnosis hepatoblastoma elevated alpha-fetoprotein not common in neonates neuroblastoma metastasis: usually multiple mesenchymal hamartoma (usually seen as multilocular cystic mass) 7,8 References

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