PAEDIATRICS 3 Flashcards

Question

air reduction for intussusception - pressure limit - contraindications - success rate - risk of perforation

Answer 1

- 120 mm Hg - peritonitis, free air - 80-90% - 0.5% risk of perforation

Answer 2

vertebral anomalies anal (imperforate) Cardiac (73%) TE fistula Renal limb (radial ray)

Answer 3

6- 8 weeks

Answer 4

- Trisomy 18 - umbilical cord cysts, Turners, Klinefelters, Beckwith Wiedeman, cardiac defects

Answer 5

- #2 cause of pancreatic insufficiency in kdis - diarrhea, short stature, and eczema

Answer 6

- hepatoblastoma - infantile hepatic hemangioma - mesenchymal hamartoma

Answer 7

- often \< 1 yr - high output CHF - skin hemangiomas present in 50% - Endothelial growth factor is elevated - spontaneously involute without therapy - prgoressively calcify - can be associated with Kasabach- Merritt syndrome

Answer 8

- most common primary liver tumor of childhood (\< 5) - assocaited with hemihypertrophy, Wilms, Beckwith Wiedemann - prematurity is risk factor - elevated AFP - solitary right sided mass - can extend into PV, HV, and IVC - calcification present in 50% - may cause precocious puberty from making beta-HCG

Answer 9

* predominantly cystic mass - * calcification UNCOMMON - * large portal vein branch feeding tumor - * AFP is negative Hepatic mesenchymal hamartoma Dr Mohamed Saber and Dr Yuranga Weerakkody◉ et al. Hepatic mesenchymal hamartomas are uncommon benign hepatic lesions which are mostly seen in children under the age of 2. Some authors consider them to be developmental anomalies rather than cystic neoplasia 9,12. Epidemiology Hepatic mesenchymal hamartomas typically occur in children and neonates 3 with most cases presenting within the first two years of life 3. They rarely present in adults 10. There is a reported male predominance of 2:1 13. Clinical presentation Hepatic mesenchymal hamartoma can be rather large on presentation, and so abdominal enlargement and respiratory distress are thought to be the most common presenting features in children. Classically presents with normal serum alpha-fetoprotein (AFP) level, although unusual cases presenting with elevated AFP have been reported 2. Pathology The lesions are characterised by an admixture of ductal structures (blood vessels, small groups of hepatocytes, and bile ducts) within a copious loose/oedematous connective tissue stroma 7-8. They rarely calcify 15. On a cut surface, there are typically multiple cysts in an oedematous stroma; the cysts can vary in size ranging from a few millimetres to 16 cm, and in number and distribution, being discrete or connected 13. Histology Mesenchymal hamartomas in adults may show a series of histologic modifications: progressive loss of hepatocytes, degeneration of bile duct epithelium, and cystic changes of the mesenchymal component 12-13. Genetics Mesenchymal hamartomas of the liver are attributed to abnormal expression of the chromosome 19 microRNA cluster, such as due to chromosome rearrangement, or DICER1 gene mutation, which in turn causes microRNA dysregulation 14. Radiographic features As with other hamartomas, hepatic mesenchymal hamartomas are disorganised lesions that are usually cystic with a variable amount of associated soft tissue. A wide spectrum of imaging features has been described, from cystic and often multiseptated, to mixed solid/cystic, to even completely solid 1. The dominant radiographic pattern, however, is a large (often around 12-15 cm 8), predominantly cystic mass with internal septations 3. There can be considerable variation in the size of septae and cystic spaces 9. Conventional radiograph Although nonspecific, radiographs may show a large, non-calcified mass in the right upper quadrant 9. Ultrasound It usually appears as a multiseptated cystic lesion interspersed with solid components. Detection is difficult for pedunculated lesions. In some lesions may be the predominance of solid structures 13. CT On unenhanced CT, it usually has a heterogeneous appearance. The stromal elements often appear hypoattenuating, whereas the cystic components have water attenuation 8-9. The appearance of cystic and solid portions has been likened to Swiss cheese. On a postcontrast CT scan, solid portions or thick septa of the tumours can show heterogeneous enhancement 1-8,13. MRI prominent cystic components multifocality is uncommon MR imaging appearance of mesenchymal hamartoma can also vary depending on the presence of stromal elements as well as the protein content of the fluid 8. Angiography (DSA) While not being a standard diagnostic imaging modality of choice, angiography may show peripheral hypervascularity to the lesion with a septated avascular centre 3-9. Treatment and prognosis Mesenchymal hamartomas are benign lesions and are best treated by surgical resection, which usually results in cure 2. There are occasional reports of ultrasound-guided intraoperative aspiration of fluid from the cystic components of the tumour to reduce its volume, facilitating surgical resection 5. Complications There are fatal complications associated with hepatic mesenchymal hamartomas (particularly in the prenatal group) that generally result from the size of lesion 2: fetal hydrops respiratory distress: neonatal respiratory distress circulatory complications/compromise owing to a large space-occupying abdominal lesion Differential diagnosis On imaging consider hepatic abscess hepatoblastoma: often predominance of the solid component and persistently elevated or rising AFP undifferentiated (embryonal) sarcoma of the liver: older age at presentation (6-10 years) infantile haemangioendothelioma of the liver simple hepatic cyst (or cluster): no solid component

Answer 10

* pissed off cousin of mesenchymal hamartoma * cystic but much more aggressive * septations and pseudocapsule * Occurs in older age group than Hepatic mesenchymal haemangiomas **most commonly between 6 and 10 years of age,** Undifferentiated embryonal sarcoma of the liver Dr Henry Knipe◉◈ and Dr Oscar Osorio et al. Undifferentiated embryonal sarcomas of the liver are rare, aggressive, and malignant liver tumours encountered in the paediatric population. Epidemiology Approximately 90% of cases occur in patients under 15 years of age, **most commonly between 6 and 10 years of age,** but some cases have been reported in adults 1. There is a slight male predominance, but no racial predilection 1. Although it is a rare tumour, the undifferentiated embryonal sarcoma of the liver is considered by some studies as the third most common liver primary malignancy of childhood, after hepatoblastoma and hepatocellular carcinoma 2. Clinical presentation It usually manifests as a large abdominal mass, with or without abdominal pain or discomfort 1,3. Additional clinical features include fever, weight loss, lethargy and respiratory distress 1,3. Acute onset of symptoms are reported in cases of rupture, but this is uncommon 1. Liver function test results can be normal or show slightly elevated transaminase levels 1,2. Importantly, alpha-fetoprotein (AFP) and CA-125 levels are normal 1,2. Pathology Some authors have considered this as the malignant counterpart of the hepatic mesenchymal hamartoma, because there have been reports of malignant transformation of those benign tumours; however, there is currently no strong evidence to support that hypothesis 1. Location About 75% of cases occur in the right lobe of the liver 3,4. Metastases, when seen, are most frequently found in the lungs, pleura, peritoneum and bone 1. Macroscopic appearance This tumour is usually a single and well-circumscribed lesion, with a large size (often \>10 cm), and has both cystic and solid elements 3,4. Cross-section specimens of the tumour show a grey-white heterogeneous appearance, with areas of haemorrhage and necrosis, as well as gelatinous areas due to myxoid matrix 3,4. Microscopic appearance A fibrous pseudocapsule separates the lesion from the surrounding parenchyma 1. Clusters of hepatocytes are seen at the margins of the tumour, including within the pseudocapsule 1,4. The solid component is made up of spindle-like cells with ill-defined borders, and overall, has a sarcomatous appearance 1,4. Mitotic figures are very frequently seen, as well as eosinophilic globules in the cytoplasm ad hyperchromatic multiple nuclei 1,4. Radiographic features A large mass located in the right lobe of the liver in a paediatric patient under 15 years should raise the suspicion of an undifferentiated embryonal sarcoma of the liver, especially if it has a significant necrotic or cystic component and the patient has normal AFP levels 1. Vascular characteristics are non-specific, and range from hypo- to hypervascular. Generally, a unique radiographic characteristic of this tumour is the predominantly solid appearance on ultrasound, but predominantly cystic appearance on CT and MRI 1,5. Plain radiograph A plain radiograph is usually of limited use but may show a large non-calcified abdominal mass at the level of the liver 2. Ultrasound Findings described include 1: heterogeneous, predominantly solid-appearing liver mass mainly iso- or hyperechogenic to the normal liver parenchyma necrotic/cystic areas, represented by anechoic or hypoechogenic zones with posterior acoustic enhancement CT Findings described include 1: a large hypodense mass, most commonly (75%) located in the right lobe of the liver, with solid elements and multiple hyperdense septa predominantly fluid attenuation (more than 80% of the total volume) due to the myxoid stroma heterogeneous enhancement is seen, especially in the delayed contrast phase, around the periphery (including rim enhancement of the pseudocapsule) and the septa CT is often not sensitive enough to detect the regions of haemorrhage within the tumour 1. MRI The tumour itself has the following signal characteristics 1: T1: hypointense T2: hyperintense T1 C+ (Gd): heterogeneous enhancement Additionally, there may be focal areas within the tumour of hyperintensity on T1-weighted images and hypointensity on T2-weighted images, which correlate with regions of haemorrhage 1. The surrounding pseudocapsule has the following signal characteristics 1: T1: hypointense T2: hypointense Treatment and prognosis Treatment consists of complete tumour resection with a chemotherapy regimen 1,5. Although prognosis was once quite poor, with the aid of new multimodal treatment the survival rates are improving, with most of the cases currently considered curable 5. History and etymology The term "undifferentiated embryonal sarcoma" was first proposed and used by J Thomas Stocker and Kamal G Ishak, American physicians, in 1978 3. Differential diagnosis hepatic mesenchymal hamartoma (younger patients) hydatid cyst (in endemic areas) hepatic abscess (clinical evaluation) cystic degeneration in hepatoblastoma or hepatocellular carcinoma (rare; elevated AFP) cystic metastases (rare in children)

Answer 11

* - HCC * - fibrolamellar HCC * - calcifies more often * Fibrolamellar hepatocellular carcinoma is a distinct variant of HCC * not associated with cirrhosis and has different demographics and risk factors. * - undifferentiated embryonal sarcoma

Answer 12

- peripheral pulmonary stenosis - paucity of intrahepatic ducts

Answer 13

- absence of extrahepatic ducts with the proliferation of intrahepatic ducts - association with trisomy 18 and polysplenia - gallbladder may be absent - Kasai procedure prior to 3 months - triangle cord sign - near portal vein - no tracer excretion into bowel at 24 hrs

Answer 14

- 2 fissures in left lung - asplenia - reversed Aorta/IVC - more cardiac malformations

Answer 15

- 1 fissure in right lung - polysplenia - azygous continuation of the IVC less cardiac malformations - biliary atresia in 10%

Answer 16

- increased risk of stones and infection - increased risk of cancer: TCC, renal carcinoid, Wilms - Turner's - smashed against vertebral body in trauma

Answer 17

- maternal diabetes - acute renal enlargement (atrophy when chronic)

Answer 18

umbilical artery catheters; presents with severe hypertension

Answer 19

aka Eagle belly syndrome - crappy abdominal musculature - cryptorchidism - hydroureteronephrosis

Answer 20

grade 1 = reflux 1/2 way up ureter grade 2 = reflux into nondilated collecting system grade 3 = reflux + dilated collecting system (blunted calyces) grade 4: mildly tortuous grade 5 = very tortuous

Answer 21

- infection - boys \> girls

Answer 22

increased incidence of cancer (adenocarcinoma)

Answer 23

q 3 months until age 7-8

Answer 24

mesoblastic nephroma

Answer 25

Wilms Aniridia Genital Growth retardation

Answer 26

Wilms Pseudohermaphroditism progressive glomerulonephritis

Answer 27

Wilms, hepatoblastoma, macroglossia, omphalocele, hemihypertrophy, cardiac defects, large organs

Answer 28

overgrowth syndrome - Macrocephaly - CNS - retardation - ugly face - Wilms tumor association

Answer 29

- less than 1 year old at diagnosis - distal mets confined to skin, liver, and bone marrow

Answer 30

opsomyoclonus - dancing eyes and feet

Answer 31

testicular appendage torsion

Answer 32

vestigial remnant of the mesonephric duct

Answer 33

failure of tunica vaginalis and testis to connect

Answer 34

most common extratesticular mass in young men - bimodal peak (2-4, 15-17)

Answer 35

o Pure testicular teratoma only seen in \< 2 years old o Mixed teratomas seen in 25 year olds

Answer 36

o Non seminomatous GCT seen in \< 2 year olds o Heterogeneous testicular mass o AFP is very high

Answer 37

- usually bilateral - "burned out" tumors on US - dense echogenic foci that represent calcifeid scars - subtype associated with Peutz-Jeghers

Answer 38

mutliple hypoechoic masses in the testicle

Answer 39

-most common tumor of fetus or infant - solid and/or cystic - abdominal types have highest rate of malignancy - most (80%) are benign

Answer 40

- 2nd most common distal humerus fracture in kids - unstable if fracture passes through capitello-trochlear groove (milch 2)

Answer 41

medial epicondyle avulsion

Answer 42

- bony changes in 50% -celery stalk apperance- generalized lucency of metaphysis - occur in 1st few weeks of life

Answer 43

- bony changes in 95% - changes do not occur until 6- 8 weeks - metaphyseal lucent bands and periosteal reaction along long bones - Wimberger sign: destruction of medial portion of proximal metaphysis of the tibia

Answer 44

* self-limiting soft tissue welling, * periosteal reaction - * first 6 months of life - * hot mandible on bone scan (mandible is most common location) * Have you ever seen that giant multiple volume set of peds radiology books? Yeah. Same Guy. This thing is a self limiting disorder of soft tissue swelling, periosteal reaction, irritability seen within the first 6 months of life. * Really hot mandible onbone scan. * The mandible is the most common location * Clavicle and ulnar are the other classic sites. * Its rare as hell' Caffey disease Dr Jeremy Jones◉ and Dr Paresh K Desai et al. Caffey disease or infantile cortical hyperostosis is a largely self-limiting disorder which affects infants. It causes bone changes, soft-tissue swelling, and irritability. It is distinct from physiological periostitis which can be seen involving the diaphyses of the tibiae, humeri, and femora at the same age. A rare variant known as prenatal onset cortical hyperostosis is severe and fatal, though it is probably a separate entity altogether 1. Clinical presentation Children usually present within the first five months of life with tender and painful soft tissue swelling, erythema, fever, and irritability. Pathology Caffey disease is a type I collagenopathy. Both familial and sporadic forms exist. There is evidence to suggest that the familial form is inherited in an autosomal dominant fashion with incomplete penetrance and variable expression 2,3. Location The flat bones are most commonly affected: mandible: in 75-80% of cases clavicles scapula: 10% of cases ribs: lateral aspect; ipsilateral pleural effusion may appear calvaria ilia The ulnae are the long bones most commonly affected. Lytic skull lesions have been reported. The carpus, tarsus, phalanges and vertebral bodies are rarely involved. Markers Erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and alkaline phosphatase (ALP) levels are often elevated. The combination of the clinical picture, lab findings, and imaging findings is sufficient for a diagnosis. Phases Early, subacute, and late pathologic phases have been described, each with its accompanying radiologic features: Early (acute) characterised by periostitis the inflammatory process may extend to adjacent soft tissues cortical resorption may occur Subacute inflammation subsides periosteal thickening, with subsequent ossifying periostitis immature lamellar bone is deposited in layers under the periosteum, sometimes exuberantly osseous deposition may occur in adjacent soft tissues Late removal of peripheral bone, from inner to outer surface may produce a thin-walled bone with a large medullary cavity in long-standing cases cortical remodelling may also occur Long-term sequelae mandibular asymmetry and/or undergrowth persistent synostosis of the ribs: could cause scoliosis persistent synostosis of bones of the forearms and legs bowing of long bones leg length discrepancy disease recurrence in childhood Radiographic features Plain radiograph May show all or some of the following 4: periosteal reaction, either single-layered or lamellated subperiosteal cortical hyperostosis dense laminated subperiosteal new bone formation marked increase in cortical width and density in the involved long bones, only the diaphysis is affected, sparing the metaphysis and epiphysis; consequently, the bone becomes spindle-shaped soft tissue swelling over the involved bones the mandible, clavicle, and ribs are most often affected, particularly in sporadic cases Radiographic evidence of the disease may persist for years after resolution of clinical symptoms. Ultrasound Can identify soft tissue oedema and early periosteal new bone formation. High-frequency transducers should be used. MRI Can show periostitis and soft tissue oedema. It should be stressed that MRI usually does not offer much added-value in advancing the diagnosis 5 unless infection or neoplasia are high on the differential list; indeed, at times, MRI appearance may confound the radiologist. Hence, radiography should be the primary modality of investigation and follow-up. Nuclear imaging During the active phase of the disease, there is markedly increased radiotracer uptake in the involved bones, both on bone and gallium (Ga-67) scans. The "bearded infant" appearance refers to intense radiotracer uptake in the mandible 6. Nuclear scans can also be useful for showing the extent of skeletal involvement. Treatment and prognosis As noted above, Caffey disease is self-limiting and resolves spontaneously. Symptomatic treatment consists of NSAIDs, e.g. indometacin. History and etymology Paediatric radiologist John Caffey (1895-1978) 7 first described infantile cortical hyperostosis with colleague WA Silverman in 1945. Differential diagnosis osteomyelitis: there are reports of association with Caffey disease non-accidental injury trauma physiologic periostitis: isolated to the tibiae, femora, and humeri skeletal dysplasias with osteosclerosis hypervitaminosis A hypovitaminosis C (scurvy) hyperphosphataemia prostaglandin E1 and E2 therapy (for intentionally maintaining ductus arteriosus patency) infection (e.g. syphilis, tuberculosis) Ewing sarcoma metastatic neuroblastoma

Answer 45

- Congenital rubella - Congenital syphilis - Caffey disease - physiologic growth (NOT in newborns; around 3 months and resolves by 6 months) - prostaglandin therapy - neuroblastoma metastases - abuse

Answer 46

- should not be seen before 1 month (NOT in new born) - usually around 3 months - should resolve by 6 months - proximal involvement first (femur), then distal involvement - ALWAYS involves diaphysis

Answer 47

* - fibroblast growth factor receptor * - rhizomelic dwarfism * - narrowing of interpedicular distance * - tombstone pelvis * - advanced paternal age is risk factor * - trident hands (long 3rd and 4th fingers) * Numerous abnormalities are noted, including: * stenosis of the foramen magnum with a large skull * metaphyseal flaring giving a trumpet bone type appearance * the femora and humeri are particularly shortened (rhizomelic shortening) * the acetabular roof is horizontal, the iliac wings have a tombstone appearance * horizontal sacrum * progressive decrease in interpedicular distance in lumbar spine * trident hands

Answer 48

* **- most common lethal dwarfism -** * **rhizomelic shortening** * - **telephone receiver femurs** * - **short ribs and long thorax** * - **small iliac bones** * - **flat vertebral bones (platyspondyly)** * **- cloverleaf shaped skull** Thanatophoric dysplasia is a lethal skeletal dysplasia. It is the most common lethal skeletal dysplasia followed by osteogenesis imperfecta type II. Epidemiology The estimated incidence is around 1:25,000-50,000 3. Pathology Genetics It results from a mutation coding for the **fibroblast growth receptor 3 (FGFR3) l**ocated on chromosome 4p16.3. The type of receptor mutation is different from the FGFR mutation in achondroplasia. Inheritance is thought to be sporadic. Subtypes There are two recognised subtypes: **type I: marked underdevelopment of skeleton, telephone handle femurs more pronounced** type II **the presence of a cloverleaf skull may be a distinctive feature** **limb shortening milder and bowing is not a feature 3** Associations polyhydramnios 4 Radiographic features Antenatal ultrasound It may be difficult to accurately diagnose before the 3rd trimester (≈22 weeks) 4. Before that time it can be included in the differential if there is a short femur length measurement. * **Sonographically-detectable features may include:** * **relatively narrow thoracic cavity 4** * **short, thick, bowed tubular bones, especially lower extremity 4** * **thickened soft tissues of extremities 4** * **comparatively large head with frontal bossing** * **a cloverleaf skull appearance may also be seen: type II (see case 3)** * **Plain radiograph** * **Plain films are usually done postmortem, if done at all. Features include:** * **Limbs** * **proximal portions of the long limbs are small, giving a rhizomelic appearance** * **long bones (typically humeri and femora) have a typical "telephone handle" bowing with metaphyseal flaring** * **Iliac bones** * **usually hypoplastic** * **small squared iliac wings** * **may show trident acetabula** * **Chest** * **narrow chest** * **short horizontal ribs** * **small scapulae** * **Skull and face** * **relative macrocephaly** * **frontal bossing** * **proptosis** * **nasal bridge flattening** * **kleeblattschaedel (cloverleaf) skull (with type II) 2-4** * **Spine** * **platyspondyly: flattening of vertebral bodies** * **normal trunk length** Treatment and prognosis The condition is uniformly fatal within a few hours of birth either from respiratory failure or from brainstem compression from a narrow foramen magnum. History and etymology The term thanatophoric derives from the Greek words "thanatos" (θάνατος) meaning "death" 2 and "phoros" meaning "bearing/carrying/bringing".

Answer 49

- usually fatal - bell shaped thorax with short ribs 15% have polydactyly - chronic nephritis - NORMAL vertebral bodies (vs. thanatophoric)

Answer 50

-osteopetrosis -dwarf - wide angled jaw - acro-osteolysis

Answer 51

dwarf with multiple fingers

Answer 52

- lucent skull - multiple fractures - wormian bones - flat or beaked vertebral bodies - fibula longer than tibia

Answer 53

- sclerotic, weak bones - alternating bands of sclerosis parallel to the growth plate - bone in bone appearance in the vertebral body or carpals - picture frame vertebrae

Answer 54

- congenital fusion of C spine - cervical vertebral bodies are tall and skinny - sprengel deformtiy - omovertebral bone

Answer 55

- oval shaped vertebral bodies with anteiror peak - thick clavicles and ribs (canoe paddle) - iliac wings are tall and flared - wide metacarpalbones with proximal tapering

Answer 56

- mucopolysacchridosis - dwarf - mid anterior beaking of vertebral bodies (Hurler's is inferior) - most common cause of death is cervical myelopathy at C2 - bony changes progress during first few years of life

Answer 57

- H shaped vertebra - AVN of femoral hedas - bone ifnarcts - Erlenmeyer flask shaped femurs - hepatosplenomegaly - lysosomal storage disease

Answer 58

- Holt Oram - Fanconi anemia - Thrombocytopenia absent radius - will have thumb - VACTERL

Answer 59

hand or foot pain/swelling in infant with sickle cell - radiographs show periostitis 2 weeks after the pain resolves

Answer 60

varus angulation occurring at medial aspect of proximal tibia ( occurs at metaphysis, not the knee) - seen early (age 2) or late (age 12) - NOT seen before age 2 - often bilateral

Answer 61

- Pyknodysostosis - Osteogenesis Imperfecta - Rickets - Kinky Hair syndrome - Cleidocranial dysostosis - Hadju Cheney syndrome (primary acro-osteolysis)

Answer 62

- hindfoot varus - medial deviation and inversion of fore foot - elevated plantar arch - most common surgical complication of repair is over-correction, resulting in a rocker bottom flat foot deformity - more common in boys

Answer 63

- girls \> boys - breech - oligohydromnios

Answer 64

- fever - inability to walk - elevated ESR or CRP - WBC \> 12 k if 3/4 are positive --\> septic arthritis

Answer 65

elevated CRP

Answer 66

- affects most rapidly growing bones the worst (knees, wrists) - fraying, cupping, and irregularity along physeal margin - expansion of anterior rib ends - NEVER seen in newborn

Answer 67

- alkaline phosphatase deficiency - frayed metaphyses and bowed long bones - can be seen in newborn

Answer 68

- hemarthrosis - subperiosteal reaction - scorbutic rosary - expansion of costochondral junction - does not occur before 6 months

Answer 69

wide sclerotic metaphyseal line in area of rapid growth - will not spare fibula (a normal variant line might)

Answer 70

- leukemia - infection (TORCH) - Neuroblastoma mets - endocrine (rickets, scurvy)

Answer 71

0-3: retinoblastoma, CMV, colobomatous \> 3: toxoplasmosis, retinal astrocytoma