Syndromes Flashcards

Question

Aortic stenosis and Colon bleeding

Answer 1

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 2

MISME * M: multiple * I: inherited * S: schwannomas * M: meningiomas and * E: ependymomas * In fact, labelling this disorder neurofibromatosis type 2 is a misnomer, because neurofibromas are not a part of its constellation of abnormalities 1.

Answer 3

Felty syndrome Assoc Prof Craig Hacking◉◈ and Dr Yuranga Weerakkody◉ et al. Felty syndrome is a rare haematological syndrome in rheumatoid arthritis. Epidemiology It is thought to occur in ~ 1% of patients with rheumatoid arthritis 2. Clinical presentation Felty syndrome comprises of the triad of: rheumatoid arthritis typically with severe articular and extra-articular disease splenomegaly neutropenia Additionally, patients may have bicytopaenia or pancytopaenia, recurrent bacterial infections, and non-cirrhotic portal hypertension. Pathology Serological markers rheumatoid factor (RF): \>95% of patients are positive 5 antinuclear antibody (ANA): 47-100% are positive 5 HLA-DR4\*0401 antigen: 78% of patients have the antigen 5 large granular lymphocyte (LGL) expansion: ~ 30% of patients may have it 5 Treatment and prognosis Treatment is through immunosuppression to treat Felty syndrome and rheumatoid arthritis, such as use of methotrexate and rituximab 6. If frequent severe bacterial infections, G-CSF may be administered 6. History and etymology It is named after Augustus Roi Felty (1895 -1964), an American physician 1. Differential diagnosis large granular lymphocyte (LGL) leukaemia 6

Answer 4

Familial adenomatous polyposis syndrome Dr Joachim Feger◉ and Dr Henry Knipe◉◈ et al. Familial adenomatous polyposis syndrome (FAPS) is characterised by the presence of hundreds of adenomatous polyps in the colon. It is the most common of the polyposis syndromes. Terminology Familial polyposis coli, attenuated familial adenomatous polyposis and Gardner syndrome are all variants of the same disease and FAPS is used to described the entire spectrum. Epidemiology Familial adenomatous polyposis syndrome affects 1 in 10,000 births 1,3. The average age of presentation is 16 years. Associations colorectal carcinoma (see below) hepatoblastoma (400-fold increased risk compared to general population 3) extracolonic polyps (stomach, duodenum) desmoid tumours osteomas dental anomalies congenital hypertrophy of the retinal pigment epithelium papillary thyroid carcinoma - usually cribriform morular variant 8 Clinical presentation Typical symptoms and signs include rectal bleeding, diarrhoea, abdominal pain, anaemia, and/or mucosal discharge 4. Polyps usually develop around puberty 5. Pathology Familial adenomatous polyposis syndrome is characterised by the presence of hundreds or thousands of colonic adenomatous polyps, usually tubular or tubulovillous. The rectum is occasionally spared. Less commonly they affect the small bowel and stomach. Genetics Familial adenomatous polyposis syndrome results from mutation of the tumour suppressor adenomatous polyposis coli (APC) gene located on chromosome 5q21-2. Around one-third of cases are thought to be sporadic (i.e. no family history) and two-thirds thought to be familial 1. MUTYH gene has been associated with APC-negative FAPS; this has an autosomal recessive inheritance 6 and this is often called MUTYH-associated polyposis (MAP). Variants There are three variants of FAPS: Gardner syndrome attenuated familial adenomatous polyposis familial polyposis coli Radiographic features Familial adenomatous polyposis syndrome has a varied imaging appearance and demonstrate innumerable polyps. Imaging usually underestimates the number of polyps because most are \<5 mm in size. Features of colorectal carcinoma (CRC) should also be actively sought out. Treatment and prognosis Familial adenomatous polyposis syndrome accounts for 0.5% of CRC cases with ~7% of FAP carriers developing CRC by age 21 with almost every carrier developing CRC by 35-40 years 1,2. Total colectomy with ileoanal anastomosis is generally considered the surgical treatment of choice 5. Differential diagnosis Other polyposis syndromes should be considered 6: Cronkhite-Canada syndrome Peutz-Jeghers syndrome Cowden syndrome (multiple hamartoma syndrome) juvenile polyposis syndrome FAMILIAL ADENOMATOUS POLYPOSIS = FAMILIAL MULTIPLE POLYPOSIS =autosomal dominant disease with 80% penetrance (gene for familial polyposis localized on chromosome 5); sporadic occurrence in 113 Incidence: 1-;-7,000 to 1-;-24,000 live births Histo: tubular I villotubular adenomatous polyps; usually about 1,000 adenomas Age: polyps appear around puberty • family history of colonic polyps (66%) 0 Screening of family members after puberty! • clinical symptoms begin during 3rd-4th decade (range 5-55 years) • vague abdominal pain, weight loss • diarrhea, bloody stools • protein-losing enteropathy (occasionally) Associated with: (I) Hamartomas of stomach in 49% (2) Adenomas of duodenum in 25% (3) Periampullary carcinoma (4) Desmoid tumors in 9-18% --1 "carpet of polyps" = myriad of 2-3 mm (up to 2 em) polypoid lesions @ Colon (100%): more numerous in distal colon; always affecting rectum '\>I normal haustral pattern @ Stomach (5%) @ Small bowel (\<5%) Cx: malignant transformation of adenomas in: colon\> stomach\> small bowel (in 12% by 5 years; in 30% by 10 years; in 100% by 20 years after diagnosis; age at carcinomatous development usually 20-40 years; multiple carcinomas in 48%) 0 331-fold increased risk of small bowel adenocarcinoma compared to general population after colectomy 0 Periampullary carcinoma is the most common cause of death after prophylactic colectomy! Rx: prophylactic total colectomy in late teens I early twenties before symptoms develop (1) Permanent ileostomy (2) Continent endorectal pull-through pouch (3) Kock pouch(= distal ileum formed into a one-way valve by invaginating the bowel at skin site) DDx: other polyposes, lymphoid hyperplasia, lymphosarcoma, ulcerative colitis with inflammatory pseudopolyps

Answer 5

Lynch Syndrome = HEREDITARY NONPOLYPOSIS COLORECTAL CANCER SYNDROME = families with high incidence of colorectal cancers +increased incidence of synchronous and metachronous colorectal cancers Amsterdam criteria : (a) ;::3 family members of whom 2 are 1st degree relatives of the third (b) family members in ;::2 generations (c) one family member diagnosed \<50 years of age Lynch I no associated extracolonic cancer Lynch II = associated with extracolonic malignancy: transitional cell carcinoma of ureter+ renal pelvis; adenocarcinoma of endometrium, stomach, small bowel, pancreas, biliary tract, brain; hematologic malignancy; carcinoma of skin +larynx Etiology: autosomal dominant abnormality of chromosome 2 with defect in DNA replication-repair process (a) accelerated adenoma-carcinoma sequence (b) dysplasia in flat mucosa of colon Prevalence : 5-10% of patients with colon cancer; 5 x more common than familial adenomatous polyposis syndrome Mean age: 45 years Location: 70% proximal to splenic flexure Prognosis: better stage for stage than in other cancers (5-year survival rate of 65% versus 44% in sporadic cases) Surveillance: colonoscopy every 1-2 years from ages 22-35 years Hereditary non-polyposis colorectal cancer Dr Owen Kang◉ and Assoc Prof Frank Gaillard◉◈ et al. Hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is an autosomal dominant condition which predisposes to a host of malignancies, including colorectal carcinoma. It is considered the most frequent form of hereditary colorectal cancer. Diagnosis requires evaluation using clinical criteria (see: Amsterdam criteria for HNPCC). Epidemiology Lynch syndrome is the most common cancer syndrome, affecting 1 in 400 persons 3. Typically HNPCC patients present in their forties and fifties with colorectal cancer 2, or with one of the associated malignancies. It is 5 times more common than familial adenomatous polyposis syndromes (FAP) 6. It is the most common hereditary cause of endometrial cancer 9. Pathology HNPCC is due to mutations in DNA mismatch repair (MMR) genes 2, resulting most frequently in colorectal carcinoma (10-82% lifetime risk 9) as well as extracolonic malignancies, including 1,2: genitourinary tract malignancies endometrial carcinoma: 15-60% lifetime risk 9, most often endometrioid type ovarian tumour: 4-12% lifetime risk 9 prostate cancer: 30% lifetime risk 9 urothelial tract cancer: 1-7% lifetime risk 9 small bowel cancer: ~5% lifetime risk 4 duodenum 45% jejunum 29% ileum 12% not specified 14% gastric cancer: 6-13% lifetime risk 9 hepatobiliary tract malignancies: 1-4% lifetime risk 9 pancreatic malignancies: 1-6% lifetime risk 9 CNS tumours: most often glioblastoma There is a described association with breast malignancy, although the relationship is inconsistent 9. The MMR genes most commonly affected are MLH1, MSH2 (these two 70-85% of cases, MSH6, and PMS2 or EPCAM, an upstream gene in MSH2 expression 3. Variants Muir-Torre syndrome: HNPCC-variant with sebaceous tumours and keratoacanthocytomas Radiographic features Radiographic features are related to the underlying conditions: colorectal carcinoma (CRC): more frequently right sided (70% proximal to the splenic flexure) 6. Despite the name, colorectal cancers arise from adenomatous polyps. Diffuse polyposis is characteristically absent. small bowel adenocarcinoma: most commonly duodenal endometrial carcinoma ovarian tumours urinary tract malignancies Treatment and prognosis The high risk of colorectal carcinoma warrants screening of the colon every 1 to 2 years starting from 25-40 years of age 2,3 and may require colectomy. With close surveillance and resection of any adenomas which develop, the risk of CRC can be reduced by 60% 3. Due to a high number of extracolonic tumours, various screening programs have been instituted. Examples include transvaginal ultrasound screening of the uterus and ovaries (in post-menopausal women 9, at the clinician's discretion) and serum CA-125 2. One follow up regimen recommends annual transvaginal ultrasound and endometrial biopsy 3, although screening should be individualised 9. History and etymology Lynch syndrome was first described by Aldred Scott Warthin (1866-1931) 8, an American pathologist, from University of Michigan in Ann Arbor, Michigan, in 1913, after research into a family with several members with cancers. In the mid 1960s, Henry T Lynch (1928-fl.2019), an American oncologist, published further detailed painstaking work on the same family studied by Warthin, shedding further light on these apparently hereditary cancers 7. The condition was later renamed after Lynch who doggedly pursued the then heterodoxy that cancer could be hereditary In the left upper quadrant, anterior to the renal pelvis, is a focal region of mural thickening with consistent (in a patient with known Lynch syndrome) with a DJ flexure adenocarcinoma. Note the previous colectomy. Case Discussion This patient has known Lynch syndrome and has had prophylactic colectomy. Presents with DJ flexure adenocarcinoma, confirmed at laparotomy.

Answer 6

* Gastric **Leiomyosarcoma/GIST** * **Extraadrenal paraganglioma** * **Pulmonary chondroma** Carney triad Dr Bahman Rasuli◉ and Assoc Prof Frank Gaillard◉◈ et al. Carney triad is a rare syndrome defined by the coexistence of three tumours: extra-adrenal paraganglioma (e.g. spinal paraganglioma) initially, only functioning extra-adrenal paragangliomas were included, but subsequent work includes non-functioning extra-adrenal paragangliomas 1 gastric gastrointestinal stromal tumours (GIST) pulmonary chondroma CARNEY Triad In most cases, only 2 of the 3 tumours are present at the time of diagnosis. It typically affects young people. Terminology It is not to be confused with the related Carney-Stratakis syndrome, or the unrelated Carney complex History and etymology First described by J Aidan Carney, an American professor of pathology, and colleagues in 1977 5.

Answer 7

Trevors disease * Dysplasia epiphysealis hemimelica (DEH), * also known as Trevor disease, * is an extremely rare, * non-hereditary disease * osteochondromas arising from the epiphyses. * Epidemiology * The incidence is estimated at ~**1:1,000,000** * There is a recognised **male** predilection (M:F = 3:1). * It usually presents in young children. * Classification * classic form: characteristic hemimelic distribution involving more than one bone or epiphysis within a single lower extremity * localised form: single bone affection unilateral or bilateral * generalised form: involving the whole limb from pelvis to foot * Aetiology * The aetiology is uncertain but is thought to be congenital * Image: * Same patient with dysplasia epiphysealis hemimelica, age 8 years. * (a) Photograph of the lower limbs showing reduced degree of big toe discrepancy post epiphysiodesis (white arrow). * There is now bowing of the tibia and bony deformity at the periarticular region of the medial aspect of the knee and ankle joints (black arrows). * (b) Anteroposterior foot radiograph showing more prominent epiphyseal bony outgrowths and deformity of the metatarsal, medial cuneiform and navicular bones (white arrows). * (c) Anteroposterior bilateral tibia fibula radiograph showing more prominent epiphyseal osseous lesions (white arrows). There is now gross deformity of the ankle joint with ankylosis (white arrows). Findings are now more supportive of epiphyseal origin of the lesions.

Answer 8

* Granulomatosis with Polyangitis * AKA Wegener granulomatosis * Multisystem necrotising, * **necrotising non-caesating** **granulomatous** * c-ANCA +ve in 90% * predilection for the lungs and kidneys * Pathology * Autoimmune vasculitis of small to medium sized arteries, capilaries and veins * Epidemiology * slight male predominance, * \>50yo * Clinical presentation: * Cough * haemoptysis, * proteinuria, * haematuria * Radiology * Lungs: * Interstitial fibrosis at the bases, * pulmonary nodules, * cavitating in 50% of cases. * Pleural effusions and * mediastinal nodes. * Sinus: * mucosal ulceration and granulmonatous * masses within the nasal cavities with * adjacent boney and cartilaginous destruction. * Splenic: * can cause splenic infarct. .

Answer 9

Swyer-James syndrome (SJS), * AKA * Swyer-James-MacLeod syndrome and * Bret syndrome, * rare lung condition * unilateral hemithorax lucency * result of postinfectious obliterative bronchiolitis. * typically follows a viral respiratory infection in infancy or child hood; * adenoviruses or * Mycoplasma pneumoniae * Non-infectious cause includes ingestion of hydrocarbon. * It has an estimated prevalence of 0.01%

Answer 10

Dyke-Davidoff-Masson syndrome * hemicerebral atrophy/hypoplasia * secondary to brain insult usually in fetal or early childhood period * accompanied by ipsilateral compensatory osseous hypertrophy and contralateral hemiparesis. It is characterised by: * thickening of the skull vault (compensatory) * enlargement of the frontal sinus (also ethmoidal and mastoid air-cells) * elevation of the petrous ridge * ipsilateral falcine displacement * capillary malformations (are a novel finding for children with Dyke-Davidoff-Masson syndrome) 6

Answer 11

Epidermal naevus syndrome * AKA * Solomon's syndrome * Feuerstein and Mims syndrome, * what * represents a **group of distinct disorders** related to the presence of **epidermal naevi** and **extracutaneous anomalies.** * It is a syndrome linked to **mosaicism** * There are **nine** well defined epidermal naevus syndromes: 1. Schimmelpenning syndrome 2. phacomatosis pigmentokeratotica 3. naevus comedonicus syndrome 4. Becker naevus syndrome 5. angora hair naevus syndrome 6. Proteus syndrome 7. type 2 segmental Cowden disease 8. CHILD syndrome 9. FGFR3 epidermal naevus syndrome * CLOVE syndrome may also present with epidermal naevi. * History and etymology * Solomon et al. described ENS as one single entity characterised by the coexistence of epidermal naevi and extracutaneous anomalies 1.

Answer 12

* Klippel-Trénaunay-Weber syndrome * very rare congenital disorder that is characterised by a triad of: * cutaneous capillary malformations: **port wine naevi** * **limb overgrowth**: bony or soft tissue hypertrophy of an extremity (**localised gigantism)** * **varicose veins or venous malformations** of unusual distribution * It is considered an **angio-osteo-hypertrophic syndrome.**

Answer 13

McCune-Albright syndrome is a genetic disorder characterised by the association of: 1. endocrinopathy: precocious puberty 2. polyostotic fibrous dysplasia: more severe than in sporadic cases 3. cutaneous pigmentation: coast of Maine 'café au lait' spots

Answer 14

Proteus syndrome is a rare congenital, multisystemic, hamartomatous condition characterised by asymmetrical overgrowth of almost any part of the body and a broad spectrum of manifestations. It can affect tissue from any germinal layer. It is suspected to be a genetic condition, but a particular gene is not currently identified. * cerebriform connective tissue naevus: virtually pathognomonic * epidermal naevus * disproportional overgrowth: hemihypertrophy/partial gigantism * limbs * vertebrae * calvarial thickening * rarely: external auditory meatus, viscera (spleen, kidney, thymus) * macrodactyly * dysregulation of adipose tissue: * lipoma, regional absence of fat, overgrowth of fat in the posterior/anterior body wall or un subcutaneous fat of the extremities * vascular malformations: capillary, venous or lymphatic

Answer 15

CLOVES syndrome is an acronym denoting a rare condition consisting of: * Congenital Lipomatous Overgrowth * Vascular malformations * Epidermal naevi * Skeletal/Scoliosis/Spinal anomalies * truncal subcutaneous fatty overgrowth, most commonly located midline at the dorsal aspect of the chest 6 * wide feet and hands * sandal gap deformity 3 * macrodactyly * scoliosis * enlarged peripheral nerves * CNS manifestations, including neuronal migration defects, hemimegalencephaly, ventriculomegaly, dysgenesis of the corpus callosum, tethered spinal cord, and neural tube defects

Answer 16

* Kartagener syndrome (also known as Kartagener-Afzelius syndrome) is a subset of primary ciliary dyskinesia * **Autosomal recessive condition** * **Four Key Clinical features:** * **Chronic Sinusitis/Nasal Polyposis** * **Male infertility** * **Situs Inversus** * **lower lobe bronchiectasis** * Pathology: * abnormal ciliary structure or function, leading to impaired mucociliary clearance.

Answer 17

Septo-optic dysplasia (SOD) * AKA * de Morsier syndrome 1. **optic nerve hypoplasia** 2. **absence of the septum pellucidum** 3. **hypothalamic-pituitary dysfunction (2/3 of pts)** * Part of the holoprosencephalyspectrum * Associations: * 50% a/w schizencephaly * Types: * No schizencephaly * visual apparatus more severely affected * hypothalamic-pituitary dysfunction present in 60-80% of patients * may present as hypoglycaemia in the neonatal period * small pituitary gland with hypoplastic or absent infundibulum * ectopic posterior pituitary seen as a focus of T1 high signal intensity in the median eminence of hypothalamus * olfactory bulbs may be absent (Kallmann syndrome) * associated with schizencephaly * optic apparatus less severely affected * cortical anomalies: * polymicrogyria, * cortical dysplasia * may be aetiologically different * sometimes referred to as **septo-optic dysplasia plus** * In addition, a number of other associations are recognised including: * rhombencephalosynapsis * Chiari II malformation * aqueductal stenosis Selected image of coronal T2-weighted sequence showed the normal olfactory nerves (within the red cycles). **Selected image of coronal T2-weighted sequence showed _point-down appearance of the anterior horns_ of the bilateral lateral ventricles (red arrows).** Selected image of sagittal T1-weighted sequence showed the ectopic posterior pituitary gland at the roof of the third ventricle (red circle). Case Discussion This is a case where most of the septo-optic dysplasia features are nicely demonstrated. Hypoplastic optic nerves and chiasm, absence septum pellucidum with resultant typical configuration of the anterior horns of the lateral ventricles, along with ectopia of the posterior pituitary gland. On the other hand, the globes are intact and the olfactory bulbs are present with no evidence of associated parenchymal abnormality.

Answer 18

* PHACES * posterior fossa malformations * hemangiomas * arterial anomalises * co-arctation of aorta. * eye abnormalities * Eitiology * unknown. * It appears to occur randomly (sporadically) for no known reason. * There have not been reports of the disorder occurring in multiple members of the same family. * Some researchers believe that the disorder results from an unknown **postzygotic somatic mosaic mutation.** * Epidemiology * PHACE syndrome affects more **females** than it does males, although researchers are not exactly sure why this is the case. * DDx * Sturge weber syndrome = capilary malformation (port wine stain in V1 distribution) * eyes * brain * PHACES = haemangioma * * Difference between vasuclar malformations and haemangioma: * Both vascular tumors and malformations may occur anywhere on the body. * hemangiomas * vascular tumors that are **rarely apparent at birth**, grow rapidly during the first 6 months of life * involute with time * do not necessarily infiltrate * but can sometimes be destructive. * Vascular malformations * are irregular vascular networks defined by their particular blood vessel type. * In contrast to hemangiomas, **they are present at birth**, slow growing, infiltrative, and destructive. * Almost all vascular malformations and nearly 40% of hemangiomas eventually require intervention.

Answer 19

Pseudohypoparathyroidism

Answer 20

Associations * Gardner syndrome * Cowden syndrome * Familial Adenomatous Polyposis: * usually associated with the cribriform-morular variant

Answer 21

* Associations * multiple endocrine neoplasia type II (MEN2)syndromes * both MEN2a and MEN2b * von Hippel-Lindau disease * neurofibromatosis type 1 **_Mnemonic_** **_M_**edullary * **_M_**EN2a * **_M_**EN2b * Vo**M** Hipple Lindau * Vo**M** Recklinghausen

Answer 22

Associations ( Fig. 2.24 ) * Holt–Oram syndrome: ostium secundum defect * Lutembacher syndrome: ASD and mitral stenosis * Down syndrome: ostium primum defect

Answer 23

Clinical Findings Most patients are asymptomatic. Dysplastic type may show familial inheritance; also associated with Noonan syndrome (short stature, webbed neck, hypogonadism).

Answer 24

Congenital Peripheral PA Stenosis Causes * Maternal rubella (common) (Image 2 wikipedia) * Williams syndrome * Image 1: * 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 * renal artery stenosis Case courtesy of Senior Radiographer 2 Elton John Decena, RRT., Radiopaedia.org, rID: 85039

Answer 25

Clinical Findings of Congenital Aortic Stenosis (AS) * Most are asymptomatic. * Severe AS leads to CHF in infancy. * Supravalvular type associated with Williams syndrome: * Mental retardation * Peripheral pulmonary stenoses * Diffuse AS

Answer 26

Associations 1. Coarctation syndrome: * triad of * coarctation, * PDA, * VSD 2. In Turner syndrome, **most common cardiac abnormality** 3. Bicuspid aortic valve, 50% 4. Hypoplasia of the aortic isthmus (small arch) 5. Circle of Willis aneurysms 6. PDA aneurysm 7. Intracardiac defects; occur in 50% with infantile type 8. **Marfan** syndrome

Answer 27

* Lipid emboli from bone marrow enter pulmonary and systemic circulation when complicated by ARDS, has a high mortality rate * Can also affect the CNS * PResent initially with clear lungs, sudden onset of dyspnea and multiple fractures * interstitial and alveolar hemorrhagic edema produces a varied radiographic appearance * Opacities have a delayed onset * clear in 3-7 days * INTRO * Fat embolism syndrome (FES) is a rare clinical condition caused by circulating fat emboli leading to a multisystemic dysfunction. The classical clinical triad consists of: * respiratory distress * cerebral abnormalities * petechial haemorrhages * Epidemiology * It occurs in ~2.5% (range 0.5-4%) of those with fat embolism, a phenomenon that subclinically occurs in a vast majority of patients (\>90%) with bone fractures and during orthopaedic prosthetic procedures. * Clinical presentation * Symptoms usually develop 1-2 days after the event. Although fat emboli can virtually reach any organ in the body, the results of the embolic shower are most often evident in the lungs, brain, and skin. * Pulmonary dysfunction is present in 75% of patients and is the earliest to be manifested 6. The presence of numerous fat globules in the small pulmonary vessels results in dyspnoea and further hypoxaemia. * Neurological symptoms are seen in 86% of patients 6: ranging from acute confusion to drowsiness, rigidity, convulsions, or coma. * The skin manifestation is characterised by a petechial rash in the chest, axilla, conjunctiva, and neck that appears within 24–36 hours and disappears within a week 6. * Diagnosis * Gurd's and Wilson's criteria requires the presence of at least one major and at least four minor criteria: * Major criteria * petechial rash * respiratory insufficiency * cerebral involvement * Minor criteria * tachycardia * fever * retinal changes * jaundice * renal signs * thrombocytopenia * anaemia * high ESR * fat macroglobulinaemia * Pathology * Fat particles, from bone marrow after lower extremity fracture, or from vessels and heart after cardiac surgery, are released in blood circulation then embolise to, and occlude, the pulmonary capillaries. Some of the fat globules can pass through the pulmonary capillaries and reach intracranial capillaries. Pathophysiology is thought to be most likely due to both mechanical obstruction as well as a secondary inflammatory response to the released free fatty acids from trapped fat particles within the small vessels. Consumptive thrombocytopenia and anaemia are common complications of fat embolism. * Radiographic features * Fat embolism syndrome remains a clinical diagnosis. Imaging may aid to exclude competing differential diagnosis or be suggestive of fat embolism. * Chest * **CT** * **three predominate patterns are observed 1** * **ground-glass change with geographic distribution** * **ground glass opacities with interlobular septal thickening** * **nodular opacities: no zone predominance or gravity dependence in the nodular pattern** * filling defects in pulmonary arteries are rarely described in non-fulminant syndromes

Answer 28

Apert Syndrome People with Apert syndrome can have distinctive malformations of the skull, face, hands, and feet. Apert syndrome is characterized by **craniosynostosis**, a condition in which the fibrous joints (sutures) between bones of the skull close prematurely. This can cause the top of the head to appear pointed and can affect facial bones. Certain **fingers or toes may be fused or webbed.** Affected children may also have **intellectual disability.** The severity of symptoms varies between individuals. Apert syndrome almost always results from **new genetic changes** (mutations) that occur randomly. Rarely, it is inherited in an autosomal dominant pattern.

Answer 29

1. ECD, 25% 2. ASD 3. VSD 4. PDA 5. Cleft MV 6. AV communis 7. 11 rib pairs, 25% 8. Hypersegmented manubrium, 90%

Answer 30

Marfan Syndrome ( Fig. 2.67 ) * Marfan syndrome * AD connective tissue disease (arachnodactyly) with cardiac abnormalities in 60%: * Ascending aorta * Aneurysm * Aortic regurgitation (common) * Dissection * MV * Prolapse (myxomatous degeneration) * Mitral regurgitation * Coarctation * Chest deformity, kyphosis * Arachnodactyly * Excessive limb length

Answer 31

Turner Syndrome * Coarctation, 15% * Bicuspid aortic valve Short fourth metacarpal bone. Case Discussion Hand radiograph of a 9 year old girl with Turner syndrome with marked shortening of the 4th metacarpal and a positive metacarpal sign. In the metacarpal sign, a line drawn along the heads of the 4th and 5th metacarpals will intersect the head of the 3rd metacarpal if shortening is present. The shortened 4th metacarpal is the key to the sign. The sign is positive in up to 9.6% of normal individuals 3. It is however seen in a variety of conditions. For a gamut of this sign see: short 4th/5th metacarpal.

Answer 32

1. **NF1** 2. **MEN 2a + 2b** 3. **vHL** 4. **Carney-Stratakis** * Paragangliomas are the most strongly hereditary group of tumours. The most common genetic cause of hereditary paragangliomas are mutations in the succinate dehydrogenase (SDH) subunit (SDHB, SDHD, SDHA or SDHAF2) 2. * They are also associated with four clinical syndromes: * **von Hippel-Lindau syndrome** * **multiple endocrine neoplasia types 2A and 2B** * **neurofibromatosis type 1** * **Carney-Stratakis syndrome** * von Hippel-Lindau syndrome and neurofibromatosis type 1 are more commonly associated with phaeochromocytomas. * SDH mutations are common in head and neck paragangliomas, * except for SDHB, which is associated with sympathetic paragangliomas. * SDHB also confers a higher risk of malignancy 2.

Answer 33

Bilateral Masses * Metastases * Lymphoma * Bilateral pheochromocytoma in: * MEN type II * VHL * Neurofibromatosis * Granulomatous masses: * TB * histoplasmosis

Answer 34

A - Turners syndrome Horseshoe kidney Dr Pir Abdul Ahad Aziz◉ and Assoc Prof Frank Gaillard◉◈ et al. Horseshoe kidneys are the most common type of renal fusion anomaly. They render the kidneys susceptible to trauma and are an independent risk factor for the development of renal calculi and transitional cell carcinoma of the renal pelvis. Epidemiology Horseshoe kidneys are found in approximately 1 in 400-500 adults and are more frequently encountered in males (M:F 2:1) 1-3. The vast majority of cases are sporadic, except for those associated with genetic syndromes (see below) 3. Clinical presentation Horseshoe kidneys are, in themselves, asymptomatic and thus they are usually identified incidentally. They are however prone to a number of complications as a result of poor drainage, which may lead to clinical presentation. These complications include: hydronephrosis, secondary to pelviureteric junction obstruction renal calculi: up to 60% of patients 11 increased susceptibility to trauma 11 infection and pyeloureteritis cystica increased incidence of malignancy Wilms tumor 11,12 transitional cell carcinoma (TCC) of the renal pelvis 12 renal carcinoid 9 renovascular hypertension 7,8,10 Pathology Embryology A horseshoe kidney is formed by fusion across the midline of two distinct functioning kidneys, one on each side of the midline. They are connected by an isthmus of either functioning renal parenchyma or fibrous tissue. In the vast majority of cases, the fusion is between the lower poles (90%) 13. In the remainder, the superior, or both the superior and inferior poles are fused. This latter configuration is referred to as a sigmoid kidney 3. The normal ascent of the kidneys allows the organs to take their place in the abdomen below the adrenal glands. However, with a horseshoe kidney, ascent into the abdomen is restricted by the inferior mesenteric artery (IMA) which hooks over the isthmus. Hence horseshoe kidneys are low lying. As a result of this fusion the inferior pole of each kidney point medially which is the reverse of the normal renal axis. The ureters leave the kidneys and pass anterior to the isthmus, which is typically located immediately below the inferior mesenteric artery. Also due to the halted ascent, renal vascular anomalies are common: usually, multiple renal arteries arise from the distal aorta or iliac arteries; this is important when these patients undergo any procedure, particularly a renal angiogram. **Associations** **Horseshoe kidneys are frequently associated with both genitourinary and non-genitourinary malformations, and are also seen as part of a number of syndromes 3:** **chromosomal/aneuploidic anomalies** **Down syndrome** **Turner syndrome: up to 7% have a horseshoe kidney** **Edwards syndrome (trisomy 18): up to 20% have a horseshoe kidney** **Patau syndrome (trisomy 13)** **non-aneuploidic anomalies** **Ellis-van Creveld syndrome 2** **Fanconi anemia 1** **Goltz syndrome** **Kabuki syndrome** **Pallister-Hall syndrome** **VACTERL association**

Answer 35

* Crack the Core * AML * most common benign tuypour of the kidney * 95% have macroscopic fat - defining feature * usually incidental * A/w TS/bourneville disease (case 1) Bilateral diffuse involvement of the kidneys with multiple differential densities. The right-sided mass measures 125 x 163 mm and the left-sided mass 130 x 145 mm. Both masses have fatty components with CT density -33 HU. Contrast-enhanced scans show patchy and heterogeneous enhancement in the soft tissue and vascular component of the mass lesions. Normal excretion of contrast media was seen on both sides. Multiple areas of blood densities are noted on the right side suggesting haemorrhage. The uterus remains sub-involuted. Case Discussion Young female with a long history of chronic anaemia, with abnormal appearance of both kidneys discovered incidentally. CT images demonstrate bilateral giant renal angiomyolipomas. Being a common complication with giant angiomyolipomas more than 5 cm, haemorrhage may be the direct cause of the patient's long-lasting anaemia. The patient's renal function was within normal limits. The patient had multiple facial angiofibromas by inspection which raises the odds of tuberous sclerosis. * they can bleed if big enough\>4cm * ? grow/bleed more in preg * they should never have calcifications if they do thick of RCC * They can be lipid poor 5%. and those are T2 dark. * case 2 = giant AML

Answer 36

pancreas: cysts, serous cystadenoma, neuroendocrine (islet cell) Tumor pheochromocytoma Hemangioblastomas of cerebellum, brain stem, spinal cord

Answer 37

* lungs: * LAM * chylothorax * cardiac: * rhabdomyosarcoma * brain: * SEGA, * tubers, * subependymal nodules * kidneys: * AML * RCC

Answer 38

Adult Polycystic Kidney Disease (Apkd) ( Fig. 4.5 ) * Intro: * Cystic dilatation of collecting tubules, as well as nephrons * (unlike MCD and infantile polycystic kidney disease in which only the collecting tubules are involved). * AD trait (childhood type is AR). * Incidence: * 0.1% (most common form of cystic kidney disease; accounts for 10% of patients on chronic dialysis). * Clinical * Slowly progressive renal failure. * Symptoms usually begin in 3rd or 4th decade, but clinical onset is extremely variable, ranging from palpable cystic kidneys at birth to multiple cysts without symptoms in old age. * Enlarged kidneys may be palpable. * Treatment * Treatment is with dialysis and transplant. * Malignancy * No increased risk of malignancy.

Answer 39

* TS * VHL * BHD * ARPCKD * ADRCKD * DICER * Nephronopthisis * Asphyxiating thoracic dys- trophy (Jeune syndrome) * Meckel-Gruber syndrome; * Joubert syndrome and related disorders; * Ellis–van Creveld syndrome; * short rib–polydactyly group Fig. 63.1 (A) Postcontrast CT image shows bilateral renal cysts. There is a large cyst within the right kidney with thick enhancing septations (arrowhead). Note the multiple pancreatic cysts (arrow). (B) Axial image shows a mixed solid and cystic lesion in the left kidney (arrowhead), along with an enhancing nodule in the chord (arrow). (C)An additional complex cyst with enhancing septation is seen in the right kidney (arrowhead), along with a small enhancing lesion in the left kidney (arrowhead).

Answer 40

* INHERITANCE * AD * GENES * TSC1,TSC2 * RENAL * Bilateral renal cysts that vary in number and size; * bilateral angiomyolipomas * (may not contain appreciable fat at imaging) * renal cell carcinoma (rare) * HEART * Cardiac rhabdomyomas; * CNS abnormalities * (eg, corti-cal tubers, * subependymal nodules, * subependymal giant cell astrocytoma); * ABDO * hepatic angiomyolipomas; * pancreatic neuroendocrine tumors; * LUNGS * lymphangioleiomyomatosis; * multifocal micronodular pneumocyte hyperplasia; * BONES * osseous sclerotic lesions (bone islands); * VESSELS * (eg, abdominal aorta aneurysms)

Answer 41

**Wunderlich syndrome.** Case Discussion * Predominantly echogenic lesion involving the upper pole of the right kidney associated with more complex appearing perinephric collection. * CT scan of the abdomen confirms the presence of a fatty lesion in the upper pole of the right kidney consistent with angiomyolipoma complicated by haemorrhage. * Incidental two tiny hepatic haemangiomas. * Perirenal haemorrhage without a history of trauma complicating an angiomyolipoma is known as **Wunderlich syndrome.** * **If perirenal haemorrhage is encountered on ultrasound, a thorough workup should be performed to exclude a bleeding renal cell carcinoma.** * Case courtesy of Dr Hani Makky Al Salam, Radiopaedia.org, rID: 10090

Answer 42

* ARPKD * INHERITANCE * AR * GENE * PKHD1 (ciliopathy) * RENAL * Diffuse uniform involvement of the kidney with many tiny microcysts caused by collecting duct ectasia; * marked nephromegaly; * can see larger discrete cysts; * commonly causes chronic kidney disease in childhood * ABDO * Ductal plate malformations * (eg, congenital hepatic fibrosis); * extrahepatic bile duct dilatation (rare); * splenomegaly, * portosystemic varices, ascites * (caused by portal hypertension) * LUNGS * pulmonary hypoplasia

Answer 43

* Medullary cystic kidney disease * INHERITANCE * AD * GENES * MCKD1 (now MUC1), * MCKD2 * RENAL FINDINGS * Discrete cysts located in the medulla and at the corticome- dullary junction, * with cortical sparing; * cause of adult-onset chronic kidney disease * ASSOCIATIONS * None

Answer 44

Associations * Tuberous sclerosis: * 80% of patients with tuberous sclerosis have AML, typically multiple, bilateral lesions. * However, \<40% of patients with AML have tuberous sclerosis. * In the absence of tuberous sclerosis, 5% of all AML patients will have multiple, bilateral AML. * Lymphangiomyomatosis

Answer 45

Liddle's syndrome * Rare * Child hood hyper tension * Autosomal Dominant * Excessive reabsorption of Na2+ and loss of K+ * Dysregulation of the epithelial sodium channel (ENaC) due to a genetic mutation at the 16p13-p12 locus. * These channels are found on the surface of epithelial cells found in the kidneys, lungs, and sweat glands. The ENaC transports sodium into cells * Aldosterone levels are high in hyperaldosteronism, whereas they are low to normal in Liddle syndrome.[6] * also called Liddle syndrome[1] is a genetic disorder inherited in an autosomal dominant manner that is characterized by early, and frequently severe, high blood pressure associated with low plasma renin activity, metabolic alkalosis, low blood potassium, and normal to low levels of aldosterone.[1] Liddle syndrome involves abnormal kidney function, with excess reabsorption of sodium and loss of potassium from the renal tubule, and is treated with a combination of low sodium diet and potassium-sparing diuretics (e.g. amiloride). It is extremely rare, with fewer than 30 pedigrees or isolated cases having been reported worldwide as of 2008.[2] Signs and symptoms[edit] Children with Liddle syndrome are frequently asymptomatic. The first indication of the syndrome often is the incidental finding of hypertension during a routine physical exam. Because this syndrome is rare, it may only be considered by the treating physician after the child's hypertensiondoes not respond to medications for lowering blood pressure.[citation needed] Adults could present with nonspecific symptoms of low blood potassium, which can include weakness, fatigue, palpitations or muscular weakness (shortness of breath, constipation/abdominal distention or exercise intolerance). Additionally, long-standing hypertension could become symptomatic.[3] Cause[edit] This syndrome is caused by dysregulation of the epithelial sodium channel (ENaC) due to a genetic mutation at the 16p13-p12 locus. These channels are found on the surface of epithelial cells found in the kidneys, lungs, and sweat glands. The ENaC transports sodium into cells. The mutation changes a domain in the channel so it is no longer degraded correctly by the ubiquitin proteasome system. Specifically, the PY motif in the protein is deleted or altered so the E3 ligase (Nedd4) no longer recognizes the channel. This loss of ability to be degraded leads to high amounts of the channel being chronically present in the collecting duct. This results in a hyperaldosteronism-like state, since aldosterone is typically responsible for creating and inserting these channels. The increased sodium resorption leads to increased resorption of water, and hypertension due to an increase in extracellular volume.[4] Liddle syndrome is inherited in an autosomal dominant fashion. Diagnosis[edit] Evaluation of a child with persistent high blood pressure usually involves analysis of blood electrolytes and an aldosterone level, as well as other tests. In Liddle's disease, the serum sodium is typically elevated, the serum potassium is reduced,[5] and the serum bicarbonate is elevated. These findings are also found in hyperaldosteronism, another rare cause of hypertension in children. Primary hyperaldosteronism (also known as Conn's syndrome), is due to an aldosterone-secreting adrenal tumor (adenoma) or adrenal hyperplasia. Aldosterone levels are high in hyperaldosteronism, whereas they are low to normal in Liddle syndrome.[6] A genetic study of the ENaC sequences can be requested to detect mutations (deletions, insertions, missense mutations) and get a diagnosis.[7] Case Discussion * Medullary nephrocalcinosis. * An infant suspected to have Liddle's syndrome, screened for nephrocalcinosis. * Case courtesy of Dr Hani Makky Al Salam, Radiopaedia.org, rID: 9899 * https://en.wikipedia.org/wiki/Liddle%27s\_syndrome

Answer 46

Wunderlich syndrome. Wunderlich syndrome * Wunderlich syndrome is a rare condition in which spontaneous non-traumatic renal haemorrhage occurs into the subcapsular and perirenal spaces. * Clinical presentation * Wunderlich syndrome is clinically characterised by Lenk's triad: * acute flank pain * flank mass * hypovolaemic shock * Mnemonic * F: flank pain (acute) * F: flank mass * H: hypovolaemic shock * Pathology * Aetiology * neoplastic * neoplasms are the most common cause * among benign neoplasms, angiomyolipoma is the commonest, while among malignancies, renal cell carcinoma is the commonest * cases of haemorrhage from tuberous sclerosis and pregnancy-related angiomyolipomas have been reported 1,4 * non-neoplastic * vascular causes: vasculitis (polyarteritis nodosa being the commonest cause), renal artery aneurysms, AV malformations and fistulas, renal vein thrombosis * cystic renal diseases * calculus disease * nephritis * coagulation disorders

Answer 47

Lenk's triad: * acute flank pain * flank mass * hypovolaemic shock Mnemonic * F: flank pain (acute) * F: flank mass * H: hypovolaemic shock

Answer 48

CROUZONS a-c Skull X-ray of a Crouzon's patient at the age of a 1 week, b 2 months and c 5 months. Note the progressive synostosis of the coronal and lambdoid suture and the progressive increase in fingerprint impressions http: //www.sargentcraniofacial.com/procedures/Crouzon https: //www.researchgate.net/figure/a-c-Skull-X-ray-of-a-Crouzons-patient-at-the-age-of-a-1-week-b-2-months-and-c-5-months\_fig8\_7865734

Answer 49

Fig. 1. Cleidocranial dysplasia; characteristic appearance. The forehead is bulky with a central depression, the eyes are widely spaced and the jaw is pointed. The clavicle is malformed (arrow). https://www.sciencedirect.com/science/article/pii/S221244031200939X

Answer 50

Fig. 1. Cleidocranial dysplasia Fig. 5. Skull radiograph showing very marked persistence of Wormian bones in the cranial sutures (arrow). https://www.sciencedirect.com/science/article/pii/S221244031200939X

Answer 51

Bickers Adams Edwards syndrome is a rare x-linked disorder with profound intellectual disability, adducted thumb and large head which is comprising of a constellation of congenital CNS anomalies including: * congenital aqueductal stenosis * corpus callosum agenesis * absence of the medullary pyramids * corticospinal tracts agenesis Genetic counseling is recommended due to high rate of disease in following pregnancies. https: //www.karger.com/Article/Pdf/119619 https: //radiopaedia.org/articles/bickers-adams-edwards-syndrome-2

Answer 52

Hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare inherited disorder characterised by abnormal blood vessel formation in the skin, mucous membranes, and organs including the lungs, liver, and central nervous system. Clinical presentation Although the disease has a broad clinical spectrum, the classic clinical triad at presentation is epistaxis, multiple telangiectasias, and positive family history. The diagnosis is a clinical diagnosis (Curacao criteria) based on the presence of 3 out of 4 of the following 8,9: recurrent spontaneous epistaxis multiple mucocutaneous telangiectasias characteristic sites include: oral cavity, lips, fingers and nose visceral AVMs first degree relative with HHT Pathology It is an autosomal dominant multi-organ vascular dysplasia, characterised by multiple arteriovenous malformations (AVMs) that lack an intervening capillary network. Telangiectasias (small superficial AVMs) are particularly common. Mutations have been found in one of several genes (three known so far). De novo mutations are rare, almost all have a first-degree relative affected. Hereditary haemorrhagic telangiectasia can involve multiple organ systems. The spectrum includes:

Answer 53

Although the disease has a broad clinical spectrum, the classic clinical triad at presentation is epistaxis, multiple telangiectasias, and positive family history. The diagnosis is a clinical diagnosis (Curacao criteria) based on the presence of 3 out of 4 of the following 8,9: recurrent spontaneous epistaxis multiple mucocutaneous telangiectasias characteristic sites include: oral cavity, lips, fingers and nose visceral AVMs first degree relative with HHT **Hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome,** is a rare inherited disorder characterised by abnormal blood vessel formation in the skin, mucous membranes, and organs including the lungs, liver, and central nervous system.

Answer 54

Plummer-vinson syndrome

Answer 55

Holt–Oram syndrome: ostium secundum defect Lutembacher syndrome: ASD and mitral stenosis Down syndrome: ostium primum defect

Answer 56

http://www.tropicalgastro.com/articles/39/1/Lane-Hamilton-Syndrome.html Idiopathic pulmonary hemosiderosis (IPH) is manifest as a triad of pulmonary symptoms, alveolar opacities on chest radiographs, and iron deficiency anemia. The presence of hemosiderin in macrophages obtained in gastric or bronchoalveolar lavage is considered crucial in the diagnosis of pulmonary hemosiderosis. IPH in association with celiac disease (CD), known as Lane-Hamilton syndrome, could be due to the fact that both entities share a common pathogenic immune pathway. There are limited numbers of case reports of this syndrome in literature.

Answer 57

- elongated superior cerebellar peduncles - small or aplastic vermis - absence of pyramdial decussation - strong assocaition with retinal dysplasia - association with multicystic dysplastic kidney

Answer 58

- occipital encephalocele - multiple renal cysts - polydactyly - strong association with holoprosencephaly

Answer 59

brachycephaly + fused fingers

Answer 60

brachycephaly + first arch (maxilla and mandible) hypoplasia

Answer 61

mitochondrial encephalomyopathy, lactic acidosis, and stroke like episodes on MR spectroscopy: increased lactate; decreased NAA * CT * multiple infarcts * involving multiple vascular territories * may be either symmetrical or asymmetrical * parieto-occipital and parieto-temporal involvement is most common * basal ganglia calcification 1,2 * more prominent feature in older patients * atrophy 2 * MRI * acute infarcts * swollen gyri with increased T2 signal * may enhance * subcortical white matter involved * increased signal on DWI (T2 shine through) with little if any change on ADC: thought to represent vasogenic rather than cytotoxic oedema 3 * chronic infarcts * involving multiple vascular territories * may be either symmetrical or asymmetrical * parieto-occipital and parieto-temporal most common * MR spectroscopy: * may demonstrate elevated lactate in otherwise normal appearing brain parenchyma or in CSF 3,4. * Case courtesy of Dr Mustafa Takesh, Radiopaedia.org, rID: 78355

Answer 62

complication of Apical petrositis, when Dorello's canal is involved triad of: 1) otomastoiditis 2) facial pain (trigeminal neuropathy) 3) lateral rectus palsy (CN 6)

Answer 63

- sacrococcygeal osseous defect (scimitar sacrum) - anorectal malformation - anterior sacral meningocele

Answer 64

Posterior cortical atrophy (PCA), also called Benson's syndrome, is a rare, visual variant of Alzheimer's disease. It affects areas in the back of the brain responsible for spatial perception, complex visual processing, spelling and calculation.

Answer 65

myelopathy associated with a dural VF

Answer 66

Triad presentation of sarcoidosis.

Syndromes Flashcards

(94 cards)