MCQ Flashcards

Question

NF1

Answer 1

``` Cafe au lait spots >6 Axillary or inguinal freckling 1st degree relative Lisch nodules (iris hamartoma) Optic pathway gliomas (20% have some sort of glioma) Neurofibromas x2 or plexiform NF Distinctive bone lesion e.g. sphenoid wing dysplasia, gracile long bones. 2 of the above Chromosome 17 ``` UBO (unidentifed bright object) / FASI (focal area of signal intensity) on T2 Increased risk of Wilms, Phaeo, neuroblastoma, astrocytoma as above, rhabdomyosarc, CML, neurofibrosarc /MPNST Lower zone interstitial fibrosis in 20%

Answer 2

``` MISME Ependymomas are spinal Bilateral acoustic schwannomas. May have spinal schwannomas. Cranial and spinal meningiomas Few external signs - can have cafe au lait spots, but no lisch nodules Syringohydromyelia Cataracts 22 AD Not associated with neurofibromas ```

Answer 3

Hypoplastic vermis, cephalic rotation of remnant Cystic dilatation of 4th ventricle Enlarged posterior fossa with torcula lambdoid inversion ``` In 70%, other CNS abnormality present Cortical dysplasia, polymicrogyria, heterotopia Corpus callosum dysgenesis Holoprosencephaly Schizencephaly Lipoma of corpus ``` Trisomy 13 and 18, Non syndromic non CNS associations

Answer 4

``` Central and upper lobe predominant (and apical lower lobe) Bronchiectasis progresses to cystic Lymphadeonpathy Pulmonary artery hypertension Hyperinlfation Consolidation Pneumothoraces Mucous plugging Bronchial artery hypertrophy, haemoptysis ``` In CF there is an increased risk of GI tract, pancreatic, and biliary tree cancer, and lymphoma. Risk is more pronounced in those with organ transplants

Answer 5

Facial port wine stain and pial angiomas (ipsilateral) Trigeminal nerve (V1) port wine stain Occipital pia > parietal >frontal>temporal>mibrain>cerebellum Not hereditary Associated with coarctation, paragangliomas Gyriform / tram-track calcification Isipliateral skull and sinus hypertrophy Enlargement of ipsilateral choroid plexus

Answer 6

``` All venous blood enters right atrium A R to L shunt required survival Supracardiac >50% - left vertical vein Cardiac 30%, to coronary sinus Infracardiac Mixed 1/3 have other cardiac lesion Associated with heterotaxy, particularly asplenia ``` Snowman in supracardiac: Enlargerd right atrium forms body of snowman, while dilated vertical vein, SVC and brachiocephalic vein form head

Answer 7

TAPVR, supracardiac

Answer 8

Transposition Egg-shaped heart from LA enlargement and abnormally convex right atrium Narrow superior mediastinum from stress thymic atrophy and hyperinflated lungs

Answer 9

Upturned apex from RVH | Typically seen in TOF

Answer 10

The most common cause of congenital infective and brain damage May get symptoms after 6-9 months Microcephaly, sensorineural deafness, mental retardation, seizures Periventricular calcs (as opposed to toxoplasmosis which is more basal ganglia), hydrocephalus White matter lesions on MR

Answer 11

May cause intrahepatic haematoma if perforates a vessel wall. These may calcify. Thrombus can also calcify. Injecting hyperosmolar solutions into the portal vein contributes to fibrosis and thrombosis

Answer 12

Left to right shunting increases over initial period of life as pulmonary vascular resistance decreases Can cause RV hypertrophy

Answer 13

Megaureter - non-obstructed, reflux. Dilater posterior urethra without obstruction. (large distended bladder with thickened wall without trabeculation) Cryptorchidism Ando wall underdevelopment Potter sequence and oligo

Answer 14

Pelvi-infundibular type and hydronephrotic-obstructive type First type most common - non-communicating cysts Second type may have a dominant pelvic cyst Fatal if bilateral No increased risk of malignancy Atretic ureter - obstruction or atresia may be the cause of the kidney problem 40% have abnormal contralateral kidney, mostly PUJ obstruction (although Dahnert suggests it may be reflux) Also assocaited with ipsilateral reflux - 25%, or ectopic ureter (ARPKD can't see cysts antenatally - just enlarged echogenic kidneys) (not associated with Caroli, unlike AD and ARPKD and MSK)

Answer 15

Most common germ cell tumour of childhood 75% benign Calcs in 60%, more frequent in benign (seldom observed in malignant) Predominantly external 47% Predominantly external with significant presacral portion 35% Predominantly sacral, and predominantly presacral both 10%

Answer 16

Anterior weight bearing portion affected first Cartilage remains intact until late Subchondral fracture intermediate time MR better than bone scan

Answer 17

1 almost normal 2 looking abnormal 3 subchondral fracture 4 secondary degeneration

Answer 18

25% of cogenital lung disease 95% of cystic lung disease 1 50% 2 40% 3 10% 2 associated with renal agenesis/dys, pulmonary sequestration (hybrid), cardiac disease. No well documented lobar prediliction Overall 25% have associated anomalies - karyotype indicated in such cases Contralatera mediastinal shift in 90%

Answer 19

Cyanosis due to persistent fetal circulation in hypoplastic lung. Associated with malrotation, renal anomalies 84% left, 2% bilateral 1/2-4000 Morgagni associated with heart disease, bowel malrotation, chromosomal, mental retardation, pericardial deficiency (morgagni are R>L, but central) (majority of Morgagni herniae are asymptomatic unless they strangulate) 20% have an associated abnormality (Morgagni) Cardiac 25% Chromosomal 30% Pulmonary hypoplasia is commonest association

Answer 20

90% idiopathic Contraindication to air enema: peritonitis, free air Reduce chance of success: >24 hours, poor clinical condition, small bowel obstruction 50% <1 Ileocolic 75-90^, then ileoileal, then colicocolic 25% have no radiographic abnormality

Answer 21

Infantile haemangioma are most common head and neck tumour of infancy. Proliferate in 1st year then involute. High velocity, low resistance, distinct mass AVMs don't have an identifiable mass Haemangiomas are more prevalent in premature, low birth weight Grow then start involuting in 1st year - don't need treatment, 50% completely resolved by 5 years Can cause Kasabach-Meritt syndrome

Answer 22

Pilocytic astrocytoma most common Then medulloblastoma Then ependymoma Medulloblastomas tend to be older than ependymomas Ependymomas calcify most (40-50%), then medullo (20%) then astro (10%) (not good distinguisher)

Answer 23

Adults with medulloblastoma may have desmoplastic subtype Sclerotic bone mets most common extraneural met (65%, 35% lytic) [extraneural mets in 5%) Posterior spinal drop mets 50% - normal flow of CSF from cisterna magna (these may trigger a desmoplastic reaction) Radiosensitive Grade 4 Poor prognosis if <3, CSF mets at presentation, or incomplet resection In adults, often desmoplastic subtype, prone to recurrence Better prognosis than in childen Adult variety demonstrates cystic change in about 80%

Answer 24

Grade 2 Anaplastic subtype grade 3 - 15% Myxopapillary grade 1 5 year survival 14% for children with intracranial lesions, 76% for adults Subarachnoid dissemination in 7% of infratentorial, 1.6% of supratentorial Heterogeneous enhancement. Calcs in children, haemorrhage in adults.

Answer 25

Posterior portion of posterior limb of internal capsule myelinated at birth. Anterior portion by 1 month Anterior limb by 3 months Optic nerves 1 month Optic radiations 3 months Splenium of corpus callosum. Dorsal to ventral, caudal to cephalad, central to peripheral. Splenium T1 bright at 4 months, genu 6 months T1 bright precedes T2 low Adult pattern by 18 months

Answer 26

Round ovoid mass from medial canthus to inferior meatus along course of duct

Answer 27

Environmental and genetic factors implicated Early gestational insult Associated with trisomy 13 and 18 Sonic hedgehog gene Endocrine abnormalities - diabetes insipidus in 70%, hypothyroidism 11%, hypocortisolism 7%, GH def 5% Proboscis, cyclopia, cleft lip, hypotelorism, solitary central incisor Olfactory tracts absent

Answer 28

Tends to spare posterior elements Can cause anterior wedging and vertebra plana Thoracic>lumbar>cervical A soft tissue component is common

Answer 29

Alobar, semilobar, lobar Alobar most severe Alobar - Fused thalami, single ventricle Semilobar - anterio fusion and thalamic fusion. Corpus callosal agenesis or hypoplasia Lobar - Subtle fusion e.g. cingulate gyri, frontal horns of lateral ventricles, fornices, absent septum pellucidum. Thalami separate

Answer 30

Thought of as part of holoprosencephaly spectrum Absence of septum pellucidum and optic nerve hypoplasia Associated with schizencephaly May not be able to distinguish from lobar holoprosencephaly

Answer 31

Dysplasia, spine and proximal epiphyseal centres Abnormal collagen synthesis Congenital and tarda forms Short proximal limbs, normal size hands and feet Coxa vara, flattened femoral head Atlantoaxial instability Craniovertebral junction stenosis Scoliosis Platyspodyly Short neck and short trunk with protruding abdomen Normal IQ and life span Associations: myopia, retinal haemorrhage, hearing loss, nephrotic syndrome

Answer 32

Misnomer – not true desmoid. AKA distal femoral metaphyseal irregularity. Asymptomatic, do not touch lesion, adolescents, slight male predominance Posteromedial aspect of distal femoral metaphysis at insertion of adductor magnus or medial head of gastrocneumius, High T2 / STIR, enhances, with normal or slight increased bone scan uptake Lamellated periosteal reaction, may simulate aggressive lesion.

Answer 33

Clear cell renal cancers

Answer 34

Genu varum Delayed closure of anterior fontanelle Scoliosis Growth plate widening Frayed metaphyses

Answer 35

Single muscular wall >3mm Length >15mm Diameter >14mm 3.1415 to remember (pi) Associations: Turners, T18, TOF

Answer 36

Microcephaly, or macro from hydrocephalus | Basal ganglia calcs, (if periventricular more likely CMV, or TS)

Answer 37

``` Omphalocele Ectopia cordis Diaphragmatic defect Pericardial defect Cardiac malformations (ASD, VSD, TOF, LV diverticulum) ```

Answer 38

Ground glass osteoporosis Periosteal reaction from subperiosteal haemorrhage Wimberger ring - circular epiphyseal shadow from haemorrhage Frankel line - dense metaphyseal band Trummerfield zone - lucent band under Frankel line Pelken spurs - spurred metaphyses, results in cupping

Answer 39

``` Normal TLC Normal TORCH Leukaemia Chronic illness ``` Scurvy (Trummerfield zone under Frankel line), Rickets

Answer 40

Mostly sporadic, but associated with: Beckwith weideman, DiGeorge, Hirschsprung, NF1 Homer Wright rosettes (also seen in medulloblastoma, PNET, pineoblastoma) Can cause cerebellar ataxia May have proptosis from orbital mets 2/3 in abdomen, with 2/3 of these in the adrenals 4s - <1, mets to skin, liver, bone marrow

Answer 41

Congenital overgrowth disorder Macroglossia, omphalocele, cardiac anomalies, localised gigantism AD chromosome 11, but most sporadic Wilms, neuroblastoma, hepatoblastoma, pancreatoblastoma, rhabdomyosarcoma, gonadoblastoma, ardenocortical carcinoma, renal stones

Answer 42

``` 22q deletion Velocardiofacial CATCH22 Cardiac anomalies (conotruncal) Abnormal facies Thymic abscence Cleft palate Hypocalcaemia ```

Answer 43

Calcification common in neuro (only 20% Wilms) Neuro younger Neuro poorly marginated v wilms well circumscribed Neuro encases vasculature, Wilms invades IVC / renal vein Neuro extends into chest, elevates the aorta, and crosses midline behind aorta

Answer 44

Infravermian cyst, communicates with 4th ventricle but not cisterna magna Causes hydrocephalus Non-perforation of Foramen of Magendie Differential of Dandy Walker, mega cisterna magna.

Answer 45

Renal cystic dysplasia, holoprosencephaly, and polydactyly (post axial i.e. 5th digit) Pseudo trisomy 13 Usually fatal at birth (from pulmonary hypoplasia or neonatal renal failure)

Answer 46

Cerebrohepatorenal syndrome Death within first year Hepatomegaly and hyperechoic kidneys (can have MCDK), abnormal brain

Answer 47

LUL > RML > RUL Right hemithorax most common LLL infrequent Can be diagnosed in utero Can present as opacified mass with midline shift initially (retained fetal fluid), then a hyperlucent segment More common in males 3x

Answer 48

1 ureter 2 renal pelvis 3 dilated ureter and pelvis mild 4 tortuous dilated ureter with preserved papillary impressions 5 tortuous dilated ureter with blunted papillae

Answer 49

Pretreatment with phenobarbital 5mg/kg/day for 5 days to increase biliary excretion and minimise false posiives on HIDA scan

Answer 50

In CF there is an increased risk of GI tract, pancreatic, and biliary tree cancer, and lymphoma. Risk is more pronounced in those with organ transplants Focal biliary cirrhosis. Fatty hepatic infiltration. Gallstones, ductal strictures, sclerosing cholangitis Pancreatic fatty replacement, pancreatitis, duct strictures Renal stones, nephrotic syndrome from secondary amyloidosis DIOS, reflux, intussusception, pneumatosis

Answer 51

Mesoblastic nephroma (neonates - commonest neonatal mass) Wilms Clear cell sarcoma (bone mets may suggest this over Wilms) RCC Rhabdoid tumour (calcifies more than Wilms, subcapsular collections characteristic but also seen in Wilms) ORTI (benign)

Answer 52

Commonest renal tumour in neonates, 90% <1 Generally benign but can be aggressive Removed - can be aggressive and can have sarcomatous degeneration Generally solid with no calcification

Answer 53

Small cysts, <2mm, not appreciable on USS Large, echogenic centrally with lucent compressed cortex peripherally (Medulla may become hypoechoic compared with cortex, giving a halo)

Answer 54

Congenital bladder diverticula At the VUJ Almost exclusively in boys Associated with reflux as normal insertion is disrupted

Answer 55

Radiosensitive 90% risk in familial RB - also osteosarcs (AD) 55% of cases have a germline mutation, most (so about 1/3 overall) bilateral Flexner Wintersteiner rosettes (relatively specific) Also Homer-Wright rosettes (also in other PNETs)

Answer 56

Peak 2-5, but can be any age of childhood | Head and neck most common, then extremites the GU tract

Answer 57

``` X-linked dysmyelinating disorder Posterior predominant Involves splenium, peritrigonal white matter Leading edge enhancement Usually symmetric Involves adrenals and testes also Accumulation of VLCFAs ```

Answer 58

``` Lemon head Banana cerebellum May cause hydrocephalus Scalloping of petrous temporal bone Fenestrated or agenic falx with interdigitated gyri Tectal beaking - fusion of midbrain colliculi into single posterior beak protruding into cerebellum Septum pellucidum may be absent May have corpus callosum dysgenesis ```

Answer 59

Low occipital and high cervical encephalocele | Herniation of posterior fossa contents

Answer 60

Most common posterior fossa mass children Calcifies less than epen and med Association with NF1 (20% have a glioma) Most cyst with enhancing nodule - 60% (half of these non-enhancing nodule). 20% heterogeneous 20% solid. WHO1 Drop mets possible but not common (WHO1)

Answer 61

= calcaneonavicular and talocalcaneal | Middle facet most commonly involved in talocalcaneal

Answer 62

Palliative operation for cyanotic heart disease with reduced pulmonary flow, prior to definitive corrective surgery End to side systemic (SCA) to pulmonary artery. Distal SCA flow sacrificed, so no mammary flow, so get unilateral rib notching, upper 3 or 4 ribs on operation side

Answer 63

Associated with maternal diabetes - 200-400x risk if insulin dependent VACTERL and Currarino triad associations (anorectal malformation and presacral mass) Associated with neurogenic bladder, motor deficits > sensory

Answer 64

Scoliosis in 50-75%. 5% of congenital scoliosis have diaste Tethered cord syndrome May have one or 2 dural sacs Vertebral anomalies common

Answer 65

70-90% of myelomeningocele have hydrocephalus 25% of hydrocephalus have spina bifida Other causes - aqueductal stenosis, other Chiaris, Dandy Walker, mass Obstructive, dysgenesis, destructive (infection, infarct or haemorrhage Aqueductal stenosis most common cause of fetal hydrocephalus (40%) but also states spina bifida most common cause of ventriculomegaly (working on difference between ventricularmegaly and hydrocephalus) Aqueductal stenosis can rarely be X-linked recessive

Answer 66

Polyostotic fibrous dysplasia Precocious puberty Coast of Maine cafe au lait (mazabraud is polyostotic fibrous dysplasia and multiple intramuscular myxomas)

Answer 67

Hypoplasia of odontoid and C1 Horseshoe kidney - renal anomlies in 30-50% Normal skeletal maturation with 15 growth arrest, delayed fusion 20 7x risk colon cancer Risk gonadoblastoma 60% complete, 30% mosaic Not associated with increased maternal age Associated with HTN, glucose intolerance, IBD Hydrops - lymphatic failure Cystic hygroma Bicuspid aortic valve Aortic coarctation Madelung, short 4th, scoliosis, short, increased carrying angle Positive carpal sign (carpal angle of 117 degrees or less - too much angulation in the proximal row) Pyloric stenosis Reduce maternal AFP (along with trisomies) Not associated with advanced maternal age

Answer 68

``` Most common inherited mental retardation Trinucleotide repeat Autism, seizures Big forehead, prognathism, macrocephaly Large testes Lax joints Flat feet Mitral valve prolapse Slightly short ```

Answer 69

``` Homozygous lethal, respiratory failure Most common non-lethal skeletal dysplasia Decreased acetabular angle Narrowed foramen magnum Posterior vertebral body scalloping Metaphyseal flaring Tombstone iliac wings Champagne pelvis Narrowed interpedicular distance Short pedicle canal stenosis Trident hand - short stubby fingers with separation between middle and ring ``` Epiphyseal maturation and ossification unaffected Quantitavely defective endochondral bone formation (not membranous bone formation which is skull, middle third of clavicle, mandible and maxilla) 80-90% sporadic

Answer 70

``` Caffeys JIA, reactive arthritis Syphilis. Other osteomyelitis - TORCH Scurvy (subperiosteal haemorrhage) Hypervitaminosis A Hypervitaminosis D (only listed as children on radiopaedia) Renal osteodystrophy Venous stasis Prostaglandins for PDA closure in premature Healing fractures ```

Answer 71

Haematologic - sickle cell, thalassaemia Metabolic - Rickets, HyperD, Hypercalcaemia, hyperthyroid Dysplasias - hypophosphatasia, achondroplasia, metaphyseal dysplasia, Hurlers Syndromes - Crouzons, Aperts, Microcephaly After shunting

Answer 72

=alkaptonuria Various MSK and renal manifestations Calculi and nephrocalcinosis Osteoporosis, disc calcs, syndesmophytes, early OA, chondral calcinosis Blue-black discolouration of ear cartilage and ocular tissue

Answer 73

80% short segment, 15% long, 5% entire colon Rectosigmoid <1 Associated with Downs Rare in the premature Typically failure to pass meconium is presentation, but can be intermittent constipation and paradoxical diarrhoea

Answer 74

``` OI Downs Rickets PORKCHOPS Pyknodystostosis Kinky hair Cleidocranial dysostosis Hypothyroid, hypophosphatasia Various Ps - progeria, pachydermoperiostosis, HajduCheney ``` Note Downs, cleidocranial dysostosis and cretinism, which are all on this list, are the causes of delayed suture closure (although cleidocranial also causes craniosynostosis) While Ricket and hypophosphatasia are on the differential for premature closure/craniosynostosis

Answer 75

``` 11 ribs Flared iliac wings with decreased acetabular angles / horizontal acetabulae Hypersegmented manubrium Persistent metopic suture Atlanto-axial subluxation Wormian bones Sandle gap Clinodactyly ``` (also have small cerebellum)

Answer 76

``` Short stature, large head with delayed suture closure, mental retardation Delayed skeletal development Stippled epiphyses (wormian bones) A cause of gibbus deformity ``` Delayed dentition Hypoplastic 5th digit Hypertelorism (no skeletal changes with adult hypothyroid) (hypothyroid is on the list of causes of basal ganglia calcs)

Answer 77

``` Roughly 1:1000 Associated with holoprosencephaly, trisomy 13 and 18, Dandy Walker 1 Lip 2 Lip and palate unilateral 3 Bilateral lip and palate 4 midline lip and palate ```

Answer 78

Right hemidiaphragm posterior ribs 7-9 | 57% CTR or greater enlarged, so 0.6

Answer 79

Hurlers (1), Morquoi (4) Hurlers most severe, Morquio slightly more common Hurlers death 10-15. Morquiou 20-40 Lysosome storage disease J shaped sella Widened (and shortened) long bones and ribs (thick ribs) Cysts in the corpus callosum are pathognomonic. Also found in peritrigonal white matter and can occur in other lobes Vertebral body beaking Vertebra plana universalis (morquio. Hurlers have normal height) Atlantoaxial subluxation Long slender pedicles Cardiomegaly (hypertrophic then dilated) Prominent perivascular spaces (corpus callosum cysts pathognomonic, also in peritrigonal white matter as above) Madelung Pointing of proximal metacarpals Gibbus deformity Hepatosplenomegaly Herniae Dysplastic odontoid

Answer 80

Question with which is not typical Answer probably fractures with dislocation Can have diaphyseal spiral fractures in non-ambulatory patient

Answer 81

NF1 most common OI Trisomy 18

Answer 82

Commonest epiphyseal tumour in children Chicken wire calc Proximal humerus common, then femur and tibia, with 10% in hands and feet Lots of oedema

Answer 83

3% of Downs have 30% of DA cases have Downs Most common high intestinal obstruction in newborns 95% of intestinal obstructions with 2 weeks of birth are from stenosis or atresia Ileal atresia is 50%

Answer 84

Subacute pyogenic osteomyelitis Tibial metaphysis common Penumbra sign - rim has higher T1 than abscess contents

Answer 85

Strep most common, then staph

Answer 86

In large long bones in 50% of infants <6months

Answer 87

Associated with infantile hypercalcaemia syndrome, and Marfans, Williams syndrome

Answer 88

If distal fistula, 90% distended with gas

Answer 89

Port wine stain Hemihypertrophy Vascular malformations (venous)

Answer 90

Beckwith Weideman Klippel Trenaunay NF1 (previous question asked "hemihypertrophy associated with gliomas - correct if referring to NF1) McCune Albright Proteus syndome

Answer 91

60% secretory Non-secretory are more common in adults Children usually present with precocious puberty - cushings is rare compared with adults where this is common

Answer 92

>1.5mm Bilateral in 50-66% Commonly associated with other anomalies e.g. the Mondini malformation (Cochlear malformation)

Answer 93

``` Radial hypoplasia or aplasia, with or without thumb abnormality Fanconi anaemia Holt Oram Trisomy 18 (possibly 13) Vacterl Valproate, thalidomide Amniotic band ```

Answer 94

Cleidocranial dysostosis, Holt Oram

Answer 95

Commonest inherited bone marrow failure syndrome Associated with horseshoe kidney Radial ray anomaly AR AML predisposition Triphalangeal thumb (pre-axial polydactyly) Hyperpigmetnation and microcephaly Ashkenazi jews and afrikaners

Answer 96

``` Clavicle hypoplasia Radial ray anomaly Heart disease - ASD, or VSD Coarctation Autosomal dominant ```

Answer 97

``` Clavicle hypoplasia May have Sprengels (high scapula) Wormian bones Supernumerary teeth Brachycephaly (premature coronal suture closure) Basilar invagination ```

Answer 98

Increased in DDH, neuromuscular disease | Decreased in achondoplasia, Down

Answer 99

Downs Cretinism Cleidocranial dysostosis (also causes premature coronal suture closure / brachycephaly)

Answer 100

Congenital scapula elevation May have an omovertebral bar - fibrous, cartilaginous or ossesus - 35% Associated with Klippel Feil, Spina Bifida, cleidocranial dystostosis

Answer 101

``` NIMROD NF1 Immobility Muscular dystrophy RA (JRA) OI Dysplasia - marfans and homocysteinuria ```

Answer 102

Torticollis from inflammatory ligamentous laxity from retropharyngeal abscess

Answer 103

Dense skull base, facial bone, mandible Undertubulated long bones / Erlenmyer Flask (C in CHONG) Obliterated sinuses AR

Answer 104

Multiple epiphyseal dysplasia | Stippled epiphyses in cretinism and maternal warfarin use, cranio, chondodysplasia punctata

Answer 105

Eyes - ectopia lentis CNS - seizures, dystonia, developmental delay Skeletal - scoliosis, pectus excavatum, long limbs, osteoporosis, ligamentous laxity Vascular - thromboembolic disease, CAD Gracile bones (D for dysplasia, along with marfans, in NIMROD)

Answer 106

``` Juvenile Pagets Elevated ALP Esp Puerto Rican descent AR Bowing of all bones Severe deformity May be epiphyseal sparing ```

Answer 107

``` May resemble rickets Defective ALP synthesis by osteoblasts Variable expression - perinatal lethal, mild, infantile, childhood, adult Hypercalcaemic Irregular metaphyses Craniosynostosis ```

Answer 108

``` Associated with Trisomies and Turners (18 has 20% rate, Turners 7%) Fanconi anaemia and VACTERL Susceptible to trauma Wilms and TCC Infection, calculi, HTN, PUJ obstruction ```

Answer 109

Hypophosphatasia Metaphyseal chondrodysplasia (type Shmidt) Biliary atresia Metabolic bone disease of prematurity

Answer 110

Birth: Calcaneus, talus, cuboid Metatarsals, phalanges 1 year: lateral cuneiform 3 years: medial cuneiform 4 years: infermediate cuneiform, navicular Secondary centres: Should all be present at 3, except calcaneus at 5

Answer 111

``` Congenital or acquired Con: MPS Aperts Cretinism Achondroplasia ``` Acquired: Infection, TB or pyo Compression fracture, may be pathological Scheurmanns Vertebra plana IMELT - langerhans most common in children

Answer 112

Lysosome storage disease The most common hereditary leukodystrophy AR Tigroid pattern on MR (perivenular sparing) Peri atrial and to lesser extent frontal horns Typically present between 12-18 months 1/3 present in adolescence - may be psychosis

Answer 113

Most common symptomatic aortic arch variant 80% right dominant Reverse S indentation on frontal barium swallow

Answer 114

1 for manubrium 4 for body 1 for xiphoid

Answer 115

Periventricular leukomalacia White matter injury of prematurity 28-36 weeks Before this get anencephaly, porencephaly In later parts get more subcortical change also Then at term involves deep grey and greywhite watersheds Subacute - develop cysts Late - parenchymal loss with ventricular enlargement. Can be graded from 1-4, mostly on the extent of cysts

Answer 116

Associated with: Heart - VSD, truncus transposition Lung - RDS, TTN GI - situs, meconium plug CNS - lots - neural tube, holoprosencephaly, caudal regression, sirenomelia Renal - agenesis, hydronephrosis, ureteric duplication Skeletal - polydactyly, syndactyly Other - poly, macrosomia, IUGR, single UA

Answer 117

Associated with Maternal diabetes Hirschsprungs

Answer 118

Apparently calcs may be seen earlier on USS according to answers

Answer 119

Suspect other pathology if over 8

Answer 120

LUL most common Distal hyperinflation Distal airway may have mucocele / mucous impaction

Answer 121

A sign on longitudinal ultrasound of intussuception Mesentery and vessels which has herniated into bowel appears as the hilum, while the oedematous bowel wall appears as the renal parenchyma

Answer 122

``` MEN2 VHL NF1 Sturge Weber TS ```

Answer 123

``` Wimbergery sign (not wimberger ring of scurvy) - erosion of medial proximal tibial metaphysis, bilateral, pathognomonic Bone lesions can heal without treatment ``` 1/3 of babies to syphilitic mothers will have, 1/3 won't, 1/3 miscarry Early or late presentation (before or after 2 years) May have bent long bones in utero Early and late signs...

Answer 124

3 variants – infantile, juvenile, adolescent, and has cysts at corticomedullary junction and medulla. Salt wasting, anaemia, uraemia. Renal failure, lethargy, growth retardation Normal sized, or small kidneys (ARPKD typically enlarged, echogenic) Juvenile form known as nephronophthisis Adult form AD Juvenile form AR Cysts are epithelial lined and usually surrounded by inflammatory cells

Answer 125

``` 67% incidence in babies born 28-32 weeks (answers suggested 40% <32 weeks) 90% of bleeds occur in first 4 days, with 40% in the first 5 hours Dex to the mother, and indomethacin to the child, can reduce risk Risk factors: Low birthweight Cyanotic heart disease Prolonged labour Multiple gestation ```

Answer 126

Aggressive renal tumour 60% <1, 80% <2 Can have hypercalcaemia from elevated PTH 66% calcify i.e. more commonly calcify than Wilms Subcapsular fluid collection also characteristic, but as the tumour is rare, still more likely to be Wilms If brain tumour also, diagnostic.

Answer 127

Non-specific, can look like Wilms | Skeletal mets if present, may suggests clear cell

Answer 128

Can be seen in association with Ehlers Danlos, hemihypertrophy or Beckwith Weidemann, and Caroli disease Causes medullary nephrocalcinosis

Answer 129

A catch term encompassing MCDK and ARPKD and ADPKD, and obstructive cystic renal dysplasia

Answer 130

Tri 18 in particular, but also Tri 21, Klinefelter Incidence 0.2-2.5% Can be normal Characteristics of cyst don't help (e.g. size, bilaterality)

Answer 131

Higher incidence in Ashkenazi jews

Answer 132

35% have a stable shunt - VSD 65% have an unstable shunt - PFO or PDA Get RVH as it functions as the systemic ventricle

Answer 133

Autosomal recessive disorders of steroidogenesis, resulting in low steroids (cortisol and aldosterone), and high androgens Virilisation and genital ambiguiity in females Low sodium (no aldosterone) Testicular masses (adrenal rests) Ovaries may be normal Dehydration

Answer 134

Idiopathic Female predominant Uncertain aetiology Diagnosis of exclusion Fever and lethargy uncommon but can occur Metaphysis and equivalent, most commonly tibia Clavicle involvement characteristic but not pathognomonic - it is uncommon to have haematogenous osteomyelitis here Early phase lytic, later sclerotic. Sclerosis is the dominant feature (so answers suggested resembles "healing osteomyelitis" No abscesses Antibiotics don't help Uncommon Dahnert suggests may be paeds version of SAPHO

Answer 135

Children and young adults Mandible Often associated with caries, dental infection Supracortical bony outgrowth, with cortical onion skinning Dahnert suggests sterile, and may be identical to chrnoic recurrent multifocal osteomyelitis

Answer 136

Bimodal In kids, 3 months to 4 years, 75% male. Do not occur perinatally (to distinguish from MCDK). In addition will still see some normal kidney in this conditions unlike MCDK In adults, female, 40-60 Multilocular cystic mass In kids, can't distinguish from cystic Wilms, so resected In adults, can't distinguish from multilocular clear cell RCC so resected

Answer 137

Achondroplasia flared anteriorly Rickets MPS - paddle ribs / spatulate

Answer 138

``` /Platyspondyly Morquio Juvenile Pagets / hereditary hyperphosphatasia Severe Gauchers OI Thanotophoric dysplasia ```

Answer 139

``` Morquio is middle Rest are inferior Hurlers Achondoplasia Cretinism Downs ``` (note MPS achondo and cretinism are on differential for Gibbus also, as well as Aperts and aquired gibbus)

Answer 140

``` Achondroplasia MPS Mass Dural ectasia - includes NF1, but also Marfans, OI tarda Acromegaly ```

Answer 141

CNS, neuroblastoma, leukaemia - may also met to sutures

Answer 142

About 50/50 with mirror image and aberrent left patterns With aberrant left - 10% have congenital hear disease, mostly TOF Mirror image branching usually associated with cyanotic disease (98% according to case review) - TOF, Truncus, Transposition, tricuspid atresia

Answer 143

``` Duplication more common Left or left of duplication usually drains to coronary sinus 5% of left associated with congenital heart disease - even more with duplication ASD most common association VSD TOF Coarctation Anomalous PVR Arrhythmia ```

Answer 144

Congenital absence of proximal femur More common in boys R predominant May be part of caudal regression syndrome May occur with fibular hemimelia (fibular deficiency, also more common in boys)

Answer 145

Dark on T1, Bright on T2

Answer 146

Metastasize much more commonly to lung than bone