PAEDIATRICS Flashcards

Question

Craniopharyngioma papillary imaging

Answer 1

Tend to be more spherical and lack prominent cystic component. Most either solid or contain few small cysts. calc is uncommon CT - cysts small, not significant - solid component enhances - calc uncommon MRI - when present cysts are variable, usually T1 hypo - Solid - T1: iso to hypo -C+: vivid - T2: variable Spectro: no broad lipid spectrum

Answer 2

Ratheke cleft cyst - no solid or enhancing component, calc rare, unilocular Pituitary marcoadenoma with cystic degen or necrosis - usually intrasellar epicentre Intracranial tertoma - presence of fat

Answer 3

a rare cortical malformation manifested by a grey matter lined cleft extending from ependyma to pia mater

Answer 4

Can be unilateral or bilateral. Lined by grey matter Open lip - cleft walls separated by CSF - most common form in bilateral vases Closed lip - walls in apposition Cleft involves the posterior frontal or parietal lobes most often. Associations - septo optic dysplasia - grey matter heterotopia - absent septum pellucidum - CC dysgenesis

Answer 5

Focal cortical dysplasia Heterotopic grey matter Porencephaly

Answer 6

group of disorders of cortical formation characterised by a smooth brain, absent or hypoplastic sulci and strongly assoc with subcortical band heterotopia

Answer 7

Usually grossly abnormal in outline with few shallow sulci and sylvian fissures. Hourglass or figure 8 appearance. Cortex is markedly thickened Subcortical band heterotopia sometimes seen SCBH usually diffuse and symmetric but sometimes anterior posterior predilection - anterior; dcx - posterior; lis1 additional features - enlarged ventricles - flattened anterior corpus - cavum septum pellucidum et vergae

Answer 8

characterised by reduction in normal sulcation associated with a bumpy or pebbly cortical surface. Due to overmigration.

Answer 9

Lack of normal sulcation - small sylvian fissure - hour glass or figure 8 appearance Multinodular surface to the cortex, most prnounced anteriorly Other features with variable frequency in underlying syndromes. Include; - hypomyelination - hydrocephalus - posterior cephalocoele - abnormal brainstem (fused colliculi, small pons, dysmorphic mesencephalon, dorsal pontomedullary kink) - abnormal cerebellum - abnormal globes

Answer 10

a relatively common group of conditions characterised by interruption of the normal neuronal migration from near the ventricle to the cortex.

Answer 11

Nodular - subependymal - subcortical Diffuse - band heterotopia - lissencephaly 1 and 2 - Laminar heterotopia

Answer 12

one of the malformations of cortical development characterised by abnormalities in both migration and cortical organisation

Answer 13

predilection for perisylvian region bilateral invovlement is common fontal - GR and cingulate typically spared parietal temporal - hippocampus spared occipital - visual cortex spared MRI intensity - subjacent white matter may be hyperintense - occasionally calcification morphology - numerous small gyri - focal cortical thicekning

Answer 14

a rare congenital brain malformation resulting from incomplete separation of the two hemispheres clasically three subtypes - alobar - semilobar -lobar additional entities - middle interhemispheric variant - septooptic dysplasia - central incisor syndrome - frontonasal dysplasia

Answer 15

Midline facial anomalies - proboscis - cyclopia - cleft lip/palate - ocular hypotelorism - solitary median maxially central incisror Non craniofacial - genital - polydactyly - vertebral - limb reduciton - transposition

Answer 16

failure of developing brain division. Variable loss of midline structures as well as fusion of the lateral and third ventricles

Answer 17

Antenatal - polyhydramnios - snake under skull sign Alobar - thalami fused - single posterior ventricle - most common with facial abnormalities Semilobar - fused anteriorly and at the thalami - olfactory tracts and bulbs not present Lobar - least affected - subtle midline abnormalities such as fusion of the cingulate and thalami - absent/hypoplastic olfactor tracts - CC dysgnesis

Answer 18

also known as de Morsier syndrome. Characterised by optic nerve hypoplsia and absence of the septum pellucidum. hypothalamic/pituitary dysfx in 2/3. Part of the holopronsencephaly spectrum

Answer 19

depedant on presence of schizencephaly Not assoc - visual aparatus more severely affected - HP axis dyfx 80% - small pit gland, absent infundibulum, ectopic posterior pit - olfactory bulbs may be absent (Kallman syndrome) Assoc w Schiz - optic less severe - cortical anomlies (poly micrgyria, crotical dysplasia) Other assoc - rhombencephalosynapsis - chiari 2 - aqueductal stenosis

Answer 20

basic cerebral structures lost - single midline monoventricle - absent midline structures (SP, CC, interhemispheric fissure and fal, olfactory tract) - dorsal cyst - absent, fused or normal optic nerves - anterior and middle cerebral arteries replaced by tnagle of carotid and basilar branches Cortex can take on one of three shapes - pancake (confined to anterior) - cup (lines anterior cranium with dorsal cyst) - ball (complete rim of rissue surround monoventricle without cyst) Craniofacial - proboscis - cyclopia - mononostril - hypotelorism - cebocephaly

Answer 21

basic structure present, but are fused anteriorly and at the thalami. Partial diverticulum of brain (dorsal cyst) - absent SP - monoventricle, partially developed occipital and temporal horns - rudimentary falx, absent anteriorly - incompletely formed interhemispheric fissure - partial or complete thalami fusion - absent olfactory tracts and bulbs - dysgenesis CC - incomplete hippocampal formation

Answer 22

Cerebral hemispheres are present - fusion of frontal horns of the lateral ventricles - wide communication with the third ventricle - fusion of the fornices - absent SP - normal or hypoplastic corpus - snake under skull Unlike semilob`ar, falx is present and interhemispheric dissure is fully formed and thalami not fused

Answer 23

the most common posterior fossa malfomation, characterised by - vermis hypopasia and rotation - cystic dilatation of the fourth ventricle extending posteriorly - enalrged post fossa with tocular lambdoid inversion

Answer 24

US - enalrged CM - vermis aplasia - trapezoid gap bw cerebellar hemispheres MRI - vermis hypoplasia and cephalad rotation - cystic dilataion of the fourth ventricle extending posteriorly - enlarged posterior gossa with torcular lambdoid inversion - obstructive hydro

Answer 25

a less severe posterior fossa anomaly than classic DWM

Answer 26

partial vermian hypoplasia with partial obstruction to the fourth ventricle without enlargement of the posterior fossa Antenatal - >18th weeks once vermis expected to form - connection bw CM and fourth ventricle - large 4th ventricle - hypoplasic cerebellar hemispheres and less severe hypoplasia of hthe ifnerior vermis

Answer 27

a cystic appearing structure that represents posterior ballooning of the inferior medullary velum into the cisterna magna, below and posterior to the vermis, that communicates with the 4th ventricle. Caused by failure of regression of Blakes pouch secondary to non perforation of the foramen of Magendie

Answer 28

Normal transient structure, also known as rudimental fourth ventricular tela choroidea. Regresses usually by 12 weeks, starts fenetrating to form the foramne of magendie. Persistent BPC occurs due to failed perforation of the FoMagendie. Causes enlargement of the ventricular system until the Lushckha opens.

Answer 29

- infravermian cyst that communicates with the 4th - does not communicate with CM posteriorly - upward displacement of the vermis - no vermian hypoplasia or rotation - elevation of the tenttorium with normal torcula - choroid plexus can extend into the cyst

Answer 30

cerebral AVF of the median prosencephalic vein at 6-11 weeks. MPV fails to regress, becomes aneurysmal. Drains via SS or persistent falcine sinus. Can be subdivided into true and secondary, due to high flow parenchymal AVMs draining to it

Answer 31

Lasjaunias Choroidal type - multiple feeders including thalamoperforating, choroidal and pericallosal arteries are located in the subarachnoid space in the choroidal fissure - converge on a fistula site at the anterior aspect of the median prosencephalic vein (MPV) - tend to present earlier (neonate) with more severe shunts - this type of VGAM results in high output cardiac failure because of multiple high flow fistulas with less outflow restriction Mural type - fistulae in the subarachnoid space in the wall of the median prosencephalic vein - supply may be unilateral or bilateral - associated with absence or stenosis of dural sinuses - associated with stenosis at the level of the jugular foramen - present later (infant) and typically with hydrocephalus - this type of VGAM presents with fewer fistulas with high outflow restriction

Answer 32

US Dilated MPV Prominent flow on Doppler hydrops/fetal cardiomegaly CTA - challenging MRA - gold std - varix and drainage

Answer 33

lack of formation of the choanal openings. Can be unilateral or bilateral, osseous or membranous. Most commonly unilateral 66% and osseous 90%

Answer 34

Posterior nasal narrowing with obstruction. Airway <3mm, level of the pterygoid plates Air fluid level above the obstruction point Thickening of the vomer Medial bowing of posterior maxillary sinus

Answer 35

CDH7 gene mutation Traditionally: Coloboma Heart defects Atresia, choanal Retarded growth/development Genital hypoplasia Ear abnormalities/deafness Updated, 4 C's Coloboma Choanal atresia Cranial nerve anomalies (esp olfactory) Characteristic ear anomalies (esp semicircular canal dysplasia)

Answer 36

Insufficient blood flow, decreased oxygen content in blood. Leads to loss of normal cerebral autoregulation and diffuse brain injury. In general, myelinated areas are more metabolically active and express more NMDA receptors which make them more vulnerable.

Answer 37

a congenital cardiac anomaly where there is persistent patency of the DA

Answer 38

XR dependant on assoc conditions LA/LV enlargement AP window obscured Pulmonary oedema Echo

Answer 39

Krichenko (CT) A: conical ductus B: window, short and wide ductus C: long tubular ductus D: multiple constrictions E: elongated with remote constriction

Answer 40

Infantile (preductal): Diffuse hypoplasia or narrowing distal to the BCA proximal to the DA More discrete, distal to the LSCA typically Blood to descending aorta via the PDA Adult (juxtaductal, post ductal or middle aortic) Short segment abrupt stenosis of the post dutal aorta Thickening of the aortic media

Answer 41

XR: Figure 3 Inferior notching (Roesler) - usually ribs 4-8, sometimes 3-9 - bilateral; stenosis post LSCA - unilateral right; stenosis distal to BCA and proximal to LSCA - unilateral left; stenosis post LSCA, prox to aberrant RSCA

Answer 42

Hyparterial broncus - below - supplied bilobed L lung Eparterial bronchus - along - supplies trilobed R lung Situs ambiguus; duplication of the hyparterial or eparterial bronchus. Assocated atria duplicated. Left isomerism/polysplenia: multiple splenules azygous IVC bilateral hyparterial bronchi bilateral bilobed lungs bilateral left atria midline/TV liver intestinal malrotation Right isomerism/asplenia: severe cyanotic congenital heart diseases absent spleen bilateral eparterial bronchi bilateral trilobed lungs bilateral right atria midline/tv liver intestinal malrotation

Answer 43

separation bw the ascending and descending aorta. Can be complete or connected by a fibrous band. Large VSD/PDA usually present.

Answer 44

Celoria/Patton: A: distal to LSCA B: bw LCCA and LSCA C: Proximal to LCCA subtypes 1: normal subclavian 2: aberrant subclavian 3: isolated subclavian from ductus

Answer 45

DiGeorge syndrome Truncus AP septal defect Transposition Double outlet right ventricle

Answer 46

most common symptomatic arch variant, 50-60% of vascular rings.

Answer 47

right dominant left dominant codominant

Answer 48

1: Right arch with mirror branching - interruption of dorsal segment left arch bw LSCA and desc aorta, regression of the right PDA - assoc: TOF, truncus, tricuspid atresia, transposition 2: Right sided with aberrant LSCA - assoc with kommerells diverticulum - interruption of the dorsal segment of the left arch bw LCCA and LSCA with regression of the right ductus 3: right sided aortic arch with isolated left subclavian artery - rarest, 0.8% - interrupted twice; bw LCCA and LSCA and other distal to the attachement of the left ductus - assoc with subclavian steal and VB insuff

Answer 49

Double arch Right arch with aberrant left subclavian and left lig arteriosum Aberrant right subclavian Pulmonary sling Fluoro: - Double arch: posterior and bilateral oesophagus indentation, bilateral tracheal indentation - Right arch, aberrant left subclav: posterior oesophagus indentation, tracheal buckling to left - Left arch, aberrant right subclav: posterior oesophagus indentation, tracheal buckling to right - Pulmonary sling: anterior oesophagus indentation, posterior tracheal indentation

Answer 50

an uncommon cardiac anomaly characterised by anomaly of the tricuspid valve. Common cause of congenital tricuspid regurg. Abnormal tricuspid valve (particularly septal and posterior leaflets) displaced apically into the RV resutlting in atrialisation of the parts of the ventricle above the valve. Results from leaflets not separating from each other or from chordae tendinae.

Answer 51

Severe right cardiomegaly, elevated apex Box shape Apical displacement of the septal and posterior leaflets Atrialisation of the right ventricle TR Assoc RVOT anomalies ASD (particularly secundum) VSD TOF

Answer 52

membranous/perimembranous, including the gerbode defect inlet outlet muscular/trabecular

Answer 53

Secundum 60-90%, usually isolated Primum 5-20%, assoc with cleft anterior mitral valve Sinus venosus, 5%, assoc with anomalous pulmonary venous return Coronary sinus type "unroofed" rare

Answer 54

ASD and MS

Answer 55

ASD/VSD Coarctation Radial ray anomalies Thumb anomalies Phocomelia Clavicle hypoplasia

Answer 56

a cyanotic congenital heart anomaly with abnormal drainage of the entire pulmonary venous system. All systemic and pulmonary veins to right atrium. R to L shunt required for survival, usually PFO

Answer 57

Supracardiac - 50%, vertical vein to BCV, SVC or azygous Cardiac - 30%, into coronary sinus and RA Infracardiac - vertical descending vein to portal system or IVC Mixed - connections at two or more levels

Answer 58

Supracardiac - snowman, figure 8, cottage loaf

Answer 59

a cyanotic congenital anomaly. Single trunk supplied pulmonary and systemic circulation. Classified as a conotruncal anomaly. Usually assoc with a VSD.

Answer 60

lack of normal separation of the embyrological truncus into aorta and PT

Answer 61

Collett and Edwards: 1. common trunk 2. PA's arise separately, posteriorly, close to each other and above the truncual valve 3. pulmonary a's independantly from sides of the trunk 4. neither PA from common trunk, pseudo truncus, comes off later from the aorta

Answer 62

moderate cardiomegaly pulmonary plethora, collaterals wide mediastinum

Answer 63

most common cyanotic congenital cardiac anomaly presenting in the neonatal period. Ventriculoarterial discordance with aorta from RV and PT from LV. L type: congenitally corrected, AV discorance D type: normal AV connections. needs an ASD/VSD/PFO/PDA

Answer 64

egg on a string

Answer 65

the most common cyanotic congenital heart condition. VSD, RVOTO, overriding aorta, late RVH

Answer 66

Cardiac: Right arch Pulmonary hypoplasia ASD/PDA (Pentalogy of Fallot) Coronary aa anomaly Left SVC Extra cardiac CLE DiGeorge Fetal rubella Prune belly TOF VACTERL

Answer 67

boot shaped heart; upturned cardiac apex due to RVH and concave PA segment Pulmonary oligaemia Right arch 25%

Answer 68

Plethora - TAPVR - TGA - Truncus - Tingle ventricle - Tricuspid atresia Decreased pulm vascularity - TOF - Ebstein - Hypoplastic RH syndrome (hypoplastic RV, Tricuspid atresia, pulmonary atresia) - combined and infrequent anomalies; double outlet right ventricle with pulm stenosis, single ventricle with pulmonary stenosis, Uhl anomaly, pentalogy of cantreell

Answer 69

Plethora: - VSD - ASD - AVSD - PDA - less common; gerbode, AP window, ruptured aneurysm of valsalva, PAPVR Normal vascularity - small shunts - AV stenosis - aortic coarctation - pulmonary stenosis

Answer 70

Absent RV myocardium, normal tricuspid valve, preserved septal and LV myocardium

Answer 71

Omphalocoele Ectopia cordis Diaphragm defect Pericardial defect CV malformation; VSD, ASD, TOF, LV diverticulum

Answer 72

benign enlargement of the subarachnoid spaces. Usually involves the frontal lobe spaces and clinically characterised by macrocephaly or frontal bossing. May be due to delayed development or function of the arachnoid villi at the sagittal sinus.

Answer 73

widening of the bifrontal and anterior interhemispheric CSF spaces no flattening of adjacent gyri. csf space follos gyral contour. normal sulci posteriorly. anterior fontanelle usually enlarged. normal ventricles

Answer 74

on a spectrum from epidermoid cysts at one end (only desquamated squamous epithelium) and teratomas (all three layers any tissue) developmental anomaly in which embryonic ectoderm is trapped in the closing neural tube bw the 5-6th weeks

Answer 75

Typically midline. Common locations; midline sella/suprasellar, parasellar, frontonasal, posterior fossa/vermis CT fat density lobulated masses calc in wall low attenuating rupture - fat attenuating globules in SAS MRI T1 usually hyperintense (cholesterol) C+ no enhancement, but if ruptured chemical meningitis T2: variable hypo to hyper

Answer 76

Intracranial lipoma - chem shift, homogenous epidermoid - restricted diffusion immature teratoma - usually pineal craniopharyngioma - strikingly hyperintense on t2, enhance

Answer 77

uncommon congenital lesions resulting from inclusion of ectodermal elements during neural tube closure. Content, derived from desquam epithelial cells mimics CSF on CT an MRI, but restricts diffusion.

Answer 78

congenital (most common) or acquired (post op, post trauma) identifcal to petrous apex and middle ear cholesteatoma. different to dermoid cysts which have epidermal and skin appendages, and mature teratomas which have all three layers thin capsule made of thin squamous epithelium, white and pearly, smooth, lobulated or nodular. internal cystic components filled with desquam epithelial keratin and cholesterol crystals

Answer 79

intradural 90% - CP angle 50% - suprasellar cistern - fourth ventricle - middle cranial fossa - interhemispheric - spinal rare extradural 10%

Answer 80

lobulated, fill and expand CSF spaces insinuating bw structures and encasing shit CT low density, similar to CSF calcification 10-25% may be hyperdense (haemorrhage, saponification, high protein) - white epidermoids non enhancing MRI T1: usually iso to CSF. can have high signal peripherally or homogenously (white epidermoid) C+ may have thin enhance peripherally. rare malignant degen enhances T2: iso to CSF 65%, hyper to grey 35%, rarely hypo (white) FLAIR: heterogenous dirty signal, higher than CSF DWI: bright af

Answer 81

CSF collections - follows CSF on all Dermoid - often fat density, midline Inflam cyst (eg neurocysticercosis) - smaller, multiple, periph enhancing, oedema, no restriction cystic tumours - usually has a solid hancing part

Answer 82

Result from branchial apparatus. During the 3-5th week second arch grows caudally and covers the third fourth and sixth arches. Fuses to skin caudal and cervical sinus forms. Edges of cervical sinus fuse and ectoderm within tube disappears. Persistence of branchial cleft or pouch results in a cervical anomaly along the anterior border of the sternocleidomastoid.

Answer 83

Cyst/fistula/sinus First: above level of mandible, near EAC within or close to parotid Second: between mandible angle level and carotid bifurcation, deeper than platysma and superficial layer of DCF Third: infrahyoid neck Fourth: infrahyoid neck, usually adjacent to thyroid

Answer 84

Paramedian thyroglossal duct cysts Thyroid nodules and cysts Necrotic node mets Infectious adenitis (TB) vascular lesion lymphatic malformations neurogenic tumorus with cystic degen cervical dermoid cysts

Answer 85

a non neoplastic tumour like congenital process manifested as a localised defect in osteoblastic diff and maturation with the replacement of normal bone with large fibrous stroma and islands of immature woven bone

Answer 86

Monostotic polyostotic craniofacial cherubism (mandible/maxilla)

Answer 87

Mostly children and young adults Assoc: - mccune albright syndrome - mazabraud syndrome - isolated endocrinopathy without full mccune

Answer 88

XR smooth and homogenous endosteal scalloping well defined thin intact cortex ground glass/lucent or sclerotic rind sign pelvis/ribs: bubbly, cystic fusiform ribs protrusio acetabuli Extremities short stature bowing shepherd crook deformity limb length discrep looser zones CT ground glass 56%, sclerotic 23%, cystic 21% well defined expansile, intact cortex, endosteal scalloping MRI t1: intermediate, heterogenous T2: heterogenous, usually low C+: heterogenous NM increased uptake on boneypoos

Answer 89

precocious puberty polyostotic fibrous dysplasia caffe au lait spots

Answer 90

fibrous dysplasia intramuscular myxomas

Answer 91

also known as pars intermedia cysts. Non neoplastic, sellar or suprasellar epithelium lined cysts arising from the embryologic remnants of Rathke pouch in the pituitary gland

Answer 92

XR sellar enlargement CT non calc, homogenous low atenuation may be heterogenous non enhancing centrally, may have wall enhancement MRI T1 50/50 hyper/hypo intense T2 70 % hyper, 30% iso/hypo C+ no enhancment. non enhancing intracystic nodule pathognmonic

Answer 93

Cystic adenoma - may have haemorrhage Craniopharyngioma - tend to calcify, no gender pref, usully suprasellar Arachnoid cyst - older Epidermoid - usually supra, retricting Teratoma - solid components, fatty signal

Answer 94

also known as von recklinghausen disease. Multisystem neurocutaneous disorder, phakamatosis and RASopathy.

Answer 95

Cafe au lait Axillary/inguinal freckling Fibromas (2 or more) Eye hamartomas Skeletal abnormalities Positive family history OT optic tumour

Answer 96

Phaechromocytoma MPNST Wilms Rhabdomyosarc Renal AML Glioma - JPA, optic nerve, DPG, spinal astrocytoma Carcinoid Leimyomas Ganglioglioma Leukaemia

Answer 97

17q 11.2 gene locus. Product is neurofibronin, acts as a tumour suppressor of the Ras/MAPK pathway hamartomatous disorder involving the ectoderm and mesoderm. Localised, diffuse and plexiform neurofibromas

Answer 98

Breast stuff CNS - FASI - optic nerve gliomas - Sphenoid wing dysplasia - lambdoid suture defects - dural calc at vertex - moya - buphthalmos Cutaneous neurofibromas Skeletal - Kyphoscoliosis - Posterior vert scalloping - hypoplastic posterior elements - enlarged foramina - ribbon rib, notching, dysplasia - dural ectasia - tibial pseudoarthrosis - bony dysplasia, esp tibial - severe bowing, gracile bones - multipls NOFs Thoracic - neurofibromas - lateral thoracic meningocoele - extra adrenal phaeo - lung disease; fibrosis, bullae, PAH Vascular - aneurysms/AVMs - renal artery stenosis - coarctation

Answer 99

rare autosomal dominant condition. NF2 gene located on the long arm of 22q12 and encodes the merlin protein (schwannonmin). Plays a role in contact inhibition of growth and tumour suppressor function.

Answer 100

MISME - multiple inherited schwannomas, meningiomas, ependymomas bilateral acoustic neuromas - pathognomonic meningiomas in a youth - suss

Answer 101

a phakomatosis characterised by multiple tumours of the embryonic ectoderm.

Answer 102

Autosomal dominant or spontaneous. Two tumour suppressor genes, both part of the mTOR pathway; TSC1 (hamartin, 9q32-34), TSC2 (tuberin, 16p13.3).

Answer 103

Neuro - Cortical/subcortical tubers - subependymal hamartomas - SEGAs - radial bands - retinal phakomas - rare; cerebellar atrophy, infarcts, aneurysms, CC dysgenesis, chiari, microcephaly, arachnoid cyst, chrodoma Abdo - renal AML - renal cysts - RCC and oncocytomas - retroperitoneal LAM - Gi polyps - pancr NET - hepatic AMLs Thoracic - LAM - multifocal micronodular pneumocyte hyperplasia - cardiac rhabdomyomas MSK - sclerotic bon e lesions - hyperostosis - periosteal new bone - scoliosis - bone cysts Skin - ash leak spots - facial angiofibromas - fibrous forehead plaque - confetti lesion - shagreen patches - periungual fibroma

Answer 104

Hamartomas (CNS/retinal/skin) Angiofibromas (facial) or adenoma sebaceum Mitral regurgitation Ash leaf spots Rhabdomyomas, cardiac Tubers Otosomal dominant Mental retardation AML Seizures, shagreen

Answer 105

characterised by numerous benign and malignant tumours in different organs due to mutatoins in the VHL tumour suppresor gene on chromosome 3

Answer 106

Abdo/Pelvis - renal cell carcinomas, usually clear cell - renal cysts - renal AMLs - phaeochromocytoma - paraganglioma - pancreatic cysts - pNET - pancreatic serous cystadnoma - pancreatic adenocarcinoma - liver cysts Urogenital - epididymal cysts - papillary cystadenoma of epididymis - broad lig cystadenoma CNS - haemangioblastomas; cerebellar, cord, brainstem - choroid plexus papilloma Head/Neck - retinal haemangioblastoma - endolymphatic sac tumour

Answer 107

Haemangioblastoma Incr risk RCC Phaechromocytoma Pancreatic lesions (cyst, cystadeno, cystadenocarc) Eye (retinal haemangioblastoma), Endolymp sac Liver, renal, pancr cysts

Answer 108

uncommon benign WHO 1 neuroepithelial intraventricular tumour which occur in paediatric and adult populations. Fourth ventricle in adults, lateral ventricles in paeds. Solid vascular tumour with vivid frond like enhancement

Answer 109

Aicardi syndrome VHL

Answer 110

Posterior fossa in adults, supratent in kids, unlike most other things Adults: fourth ventricle most common Children: mostly lateral ventricles, trigone Other; third ventricle, CP angle, parenchymal, pineal region

Answer 111

CT well defined, lobulated iso or hyperdense usually hydrocephalus homogenous enhancement frond like, cauliflower heterogenous ?carcinoma calc 25% MRI frond like morphology T1: isointense T2: iso to hypertense, small flow voids C+ marked enhancement, homogenous MR spectro: decr NAA, incr Cho

Answer 112

Atypical choroid plexus papilloma WHO grade 2 Choroid plexus carcinoma (usually young, heterogenous) Choroid plexus mets Posterior fossa kids - medulloblastoma - ATRT - ependymoma Adults consider - ependymoma - IV meningioma - subependymoma - central neurocytoma - exophytic glioma

Answer 113

malignant neoplasms of the choroid plexus. WHO grade 3. Predominantly in children <5.

Answer 114

Assoc - Li Fraumeni - Aicardi - Simian virus 40

Answer 115

markedly enhancing intraventricular tumours, usually trigone lateral ventricle and invading into brain parenchyma CT heterogenous, iso to hyper Calc 25% regions of necrosis and cyst formation prominent enhancement MRI T1 iso to hypo T2 iso to hypo, hyper necrotic areas T2*GRE blooming from calc and haemorrhage C+ marked heterogenous enhancement

Answer 116

the most common intraocular neoplasm in children. Heterogenous retinal mass with calcifications, necrosis and vascularity

Answer 117

Sporadic or germline mutation. Unilateral or bilateral. Bilateral 1/3 usually germline Unilateral 85% sporadic Clinical: leukocoria or loss of red eye reflec Path: three patterns of growth 1. endophytic; inwards into vitrous, can detach, float and seed 2. exophytic; outwards, assoc with retinal detachment 3. combined Mets; directly spreads along orbit, optic nerve SAS to leptomeninges bone/BM/liver White elevated mass with fine surface vessels Small round tumour, neuroepithelial Flexner Wintersteiner rosettes, Homer Wright pseudorosettes

Answer 118

US Echoic soft tissue masses with variable shadowing Usually vascular May have floating debris in vitreous CT enhancing retrolental mass, usually calcified vitreous haemorrhage MR T1 intermediate compared to vitreous T2 hypointense C+ enhances homogenously, or areas of necrosis DWI restriction at high b values

Answer 119

Pineal cyst Germ cell - germinoma - embryonal carcinoma - choriocarcinoma - yolk sac carcinoma - teratoma Parenchymal - pineocytoma - pineoblastoma - pineal parenchymal intermediate diff - papillary tumour Other: Glioma (usually tectal) Pineal Met Pineal melanoma Inclusion cysts Meningioma Cavernoma/VOG aneurysm

Answer 120

also known as dorsal midbrain syndrome, supranuclear vertical gaze disturbance caused by compression of the superior tectal plate Posterior commissure or pineal mass Classic triad - upward gaze palsy - pupillary light near dissociation - convergence retraction nystagmus

Answer 121

SATCHMOE - Sarcoid - Aneurysm, Adenoma - Teratoma, TB - Craniopharyngioma, Cleft cyst, Chordoma - Hypothalamic glioma, Harmatoma tuber cinereum, - Meningioma, Metastases - Optic nerve glioma - Epidermoid/dermoid, Eosinophilic granuloma Solid and enhancing - Macroadenoma - Pilo astro - Craniopharyng - Meningioma - Mets - Inflam/infiltrative - Germinoma Mixed cystic/solid - Craniopharyngioma - Macroadenoma Mosttly cystic - Rathke CC - Craniopharyngioma - Archnoid cyst, empty sella, epidermoid High T1 - Blood; macroadenoma/apoplexy, aneurysm - Fat; post op, teratoma/dermoid, lipoma - Protein; Craniopharyngioma, Rathkes, mucocoele - Calcification; chordoma, chondrosarc, chondroma - Normal; posterior bright spot, normal anterior preg, neonate, TPN

Answer 122

Rare multisystem disease Previously known as histiocytosis x Common in paeds, paek 1-3 Male predilection Historically three types - Letterer Siwe disease; disseminated multiorgan - Hand schuller christian; multiple, one or multiple organs - EG; one system, usually bone, usually one lesion More useful; - multiple organ systems, multiple sites - single system, multiple sites - single lesion Pathology - uncontrolled monoclonal proliferation of Langerhans cells - should be considered malignancy - immune mediated mech postulated - accompanied by inflammation and granuloma foramtion - electron micro; birbeck granules - immunohisto; HLA DR, CD1a, CD207, S100

Answer 123

Clinical - neurogenic diabetes insipidus - neurodegeneration, psychomotor and agitation - obstructive hydro Diabetes - absent T1 bright posterior pit (loss of vasopressin) - enhancement/thickening of the infundibulum Neurodegen - bilateral symmetric parenchymal lesions of cerebellum (esp dentate) and BG - sometimes brainstem and other parts of the brain - T1 high, variable T2 to high T1 - might enhance Mass lesions - variable appearance - meninges, pineal, choroid, hypothalamus, ependyma or parenchyma

Answer 124

a malignant tumour with skeletal muscle cell morphology Most common soft tissue tumour in children 65% under 10, usually young patients Slight male predilection

Answer 125

Not arising from skeletal muscle but differentiates into a tumour resembling skeletal muscle. Three subtypes - embryonal; spindle 50%, botryoid 10%, anaplastic - Alveolar 20% - pleomorphic 5% Can be anywhere - H/N 50%; orbit, oropharynx/nasopharynx, sinuses, mastoid, middle ear - GU 25%; paratesticular, bladder - Extremities 15% - Other 10%; trunk/thorax, GI tract

Answer 126

Non specific from other sarcomas US Heterogenous irregular well defined CT Soft tissue density Enhancement Bone destruction MR T1 low to intermediate, iso to muscle, haemorrhage (alveolar/pleomorphic) T2 hyper, flow voids (extrrem) C+ enhancing

Answer 127

an idiopathic non inflammatory non atherosclerotic progressive vasculoocclusive disease invovling the terminal supraclinoid ICAs and COW

Answer 128

Children and young. Bimodal - early childhood 4yo - middle age 30-40 Clinical Children hemispheric strokes Adults hamorrhage Watershed infarcts are common Path Fibrocellular prolif and thickening of the intima Neovascularisation

Answer 129

Usually bilateral distal ICA, can be unilateral Small net like vessels puff of smoke 50% PCA invovlment Cerebral atrophy Watershed infarcts Cerebral haemorrhage, usually adults collaterals - abnormal moya moya vessels; lenticulostriate, thalamoperforating, leptomeningeal and dural - multiple tortuous flow voids - pial collateral from less affected (PCAs), Ivy sign (high serpentine flair signal sulcus) - multiple microbleeds and prominent deep medullary veins (brush sign)

Answer 130

common cause of noisy breathing in infants. Congenital abnormality of the cartilage in the larynx resulting in dynamic partial supraglottic collapse during breathing

Answer 131

shortening of the aryepiglottic folds resulting in side to side curling of the epiglottis. Prolapse of the supraglottic tissue into the laryngeal inlet during inspiration may contribute.

Answer 132

Increased size and compliance. Usually >3cm for either gender. Can be congenital or acquired. Congenital cause: - CF - mounier kuhn - ehlors danlos - marfans - kenney caggery, cornelia de lange, ataxia telangiectasia Acquired: - Aging - intubation - COPD - pulmonary fiborosis - relapsing polychondritis

Answer 133

a rare congenital pathology in which there is unliateral or bilateral absence of lung tissue. Main difference with agenesis is a short blind ending bronchus. Usually unilateral. Associated with other congenital problems, usually cardiac or VACTERL

Answer 134

XR white out ipsilatral colume loss, contralateral hyperinflation CT absent parenchyma shift absent PA bronchus remnant

Answer 135

incomplete development of parts of the lung, characterised by bronchi and alveoli in an underdeveloped lobe.

Answer 136

Normal development; embryonic, pseudo glandular, canalicular, terminal sac or alveolar period Factors for lung development; amniotic volumes, adequate thorax size, normal breathing movement, normal fluid. Deficiency in any - hypoplasia Intrathoracic causes - CDH - extralobar sequestration - diaphragm agenesis - mediastinal masses - decreased perfusion Extrathoracic causes - oligohydramnios, potter sequence, PPROM - skeletal dysplasia, incl jeune syndrome, achondrogenesis, OI - large intraabsominal mass, NM conditions

Answer 137

a rare condition of unilateral hemithorax lucency as a result of post infectious obliterative bronchiolitis

Answer 138

XR unilateral small lung with hyperlucency and air trapping on expiration CT affected lung hyperlucent, diminished vascularity can be unilateral or bilateral can be whole lung, lobar, segmental or whatever affected lung usually smaller

Answer 139

a subset of PCD, autosomal recessive condition characterised by abnormal ciliary structure or function leading to impaired mucociliary clearance. Clinical triad - situs - sinusitis/polyps - bronchiectasis Other ft - telecanthus - infertility/subfertility (M/F)

Answer 140

XR situs bronchiectasis CT may have plugging, tib, consolidation, air trapping

Answer 141

congenital defect in the ultrastructure of cilia that renders tehm incapable of normal movement. autosomal recessive. clinical picture - chronic sinusitis/OM - bronchiectasis - impaired fertility - 50% situs

Answer 142

complete or partial absence of dynein arms radial spoke defect microtubular transposition Syndromes - kartageners - young Non syndrom - pectus - hydrocephalus - congenital heart disease - biliary atresia

Answer 143

Bronchiectasis - central, diffuse, lower zone vs CF - both hereditary, autosomal recessive, sinus/lung, infertility but - immotile cilia, normal mucus - normal ductus sperm cant swim - findings are milder

Answer 144

rare form of congenital cystic bronchiectasis in which distal bronchial cartilage is defective. deficiency of cartilage in 4th to 6th order subsegmental bronchi

Answer 145

female firstborn fhx breech oligohydramnios

Answer 146

US <6 mo - alpha >60; roof to vert cortex ilium - beta <77; vert cortex ilium and labral cartilage - bone coverage >50 XR - hilgenreiner- through triradiate cartilages - perkin - perpindicular, intersecting lateral roof = head should be inferomedial quadrant - acetabular angle - roof and hilgenreiner- 30deg at birth and reduce - shenton - discontinuous

Answer 147

mono poly (syndromes) craniofacial cherubism

Answer 148

Developmental dysplasia and focal arrest in normal osteoblastic activity secondary to non hereditary mutation which results in bone with lack of normal differentiation

Answer 149

Smooth homogenous endosteal scalloping/cortical thinning ground glass may be lucent/sclerotic well circumscribed rind sign bowing premature fusion shephard crook protrusio fusiform rib enlargement MR T1 intermediate T2 low C heterogenous

Answer 150

endocrinopath Poly FD cafe au lait FD intramuscular myxomas

Answer 151

aphophysitis of the tibial tubercle. Microtrauma at the patella tendon insertion. Active young people

Answer 152

XR soft tissue swelling bone fragmentation US swelling of unossified cartilage and overlying soft tissue fragmentation of ossification centre thickening of tendon infrapatellar bursitis MRI soft tissue swelling anterior to tuberosity loss of hoffa pad inferior angle thickening of tendon infrapatellar bursitis bone marrow oedema

Answer 153

known as legg calve perthes disease. Idiopathic osteonecrosis of the femoral epiphysis. Usually younger than SUFE (5-6ish) Need to r/o other causes; sickle cell, leukaemia, corticosteroids, gaucher

Answer 154

XR Early - maybe nothing Establish - reduced size, lucency Late - fragmentation, destruction Coxa magna early; effusion, asymmetric size, apparent increased density, blurred physeal plate, metaphyseal lucency late; crescent subchondral lucency, widening and flattening (coxa plana), femoral neck deformity (coxa magna), sagging rope (sclerosis across neck)

Answer 155

temporal phases xray abnormalities 1; early (early change) 2; fragmentation (later changes) 3; reparative; reossification 4; healed

Answer 156

radiographic appearance of epiphysis and metaphysis 1;bone absorption no sclerosis 2; resorption, sclerosis, slight collapse 3; head collapse, head in head 4; complete collapse, formation dense sclerosis

Answer 157

a type 1 salter harris growth plate injury. Usually older kids, boys, obese

Answer 158

axis of the physis becomes oblique, shear force, increased risk of fracture and slippage RF hypothyroid, hypopituitarism, hyperparathyroid, obesity, renal osteodystrophy Complications OA AVN Chondrolysis deformity FAI limb length

Answer 159

XR pre slip; irregularity and blurring, demineralised metaphysis slip is posteromedial becomes sclerotic and coxa magna klein line; lateral femoral neck, fails to intersect (trethowan sign) loss of the triangular sign of capener metaphyseal blanch sign MRI STIR: marrow oedema, joint effusion T1: low signal, displacement

Answer 160

autosomal recessive haemoglobinopathy affecting either alpha or beta globin units. ineffective haematopoeisis results in anaemia, increase in EPO. expansion of bone marrow. enlargement of medullary space and cortical thinning.

Answer 161

General: OP EMH growth retd Skull hair on end widening diploic thinning of out/in table occipital sparing Facial: rodent or chipmunk hypopneumatisation sinuses, sparing ethmoid Ribs; expansion rib in a rib Spine: increased H/W ratio biconcavity canal stenosis scoliosis Extremities wideining metacarpal shafts premature fusion red growth concave shape long bones coarse trabucular cyst like lucencies erlenmeyer flask deformity harris lines GI/HPB cholelithiasis haemosiderosis splenomegaly

Answer 162

HI NEXT H; hereditary spherocytosis I; iron deficiency N: neuroblastoma E; enzyme, G6PD haemolytic S; sickle cell T; thalaseemia major

Answer 163

Vertebral anomalies (hemivertebrae, congenital scoliosis, caudal regression, spina bfida) Anorectal anomalies (anal atresia) Cardiac anomalies, cleft lip TracheooEsophageal fistula/atresia Renal anomalies, Radial Ray anomalies Limb anomalies (poly/oligodactyl)

Answer 164

Legg Calve Perthes Freiberg infraction Kienbock disease Kohler disease Osgood schlatter Osteochondritis dissecans knee/elbow Panner disease Sever disease Sinding Larsen Johansson

Answer 165

Osteochrondrosis of the metatarsal heads. Usually 2nd. Can be bilateral. Adolescents and f.m. Multifactorial; injury and vascular compromise

Answer 166

Flattening/cystic lesions Widening of the MTP Osteochondral fragments Sclerosis and flattening Cortical thickening

Answer 167

osteonecrosis of the lunate. Youger males and middle aged women. Assoc with negative ulnar variance. Disrupted critical blood supply leading to infarction, central necrosis and surrounding hyperaemia.

Answer 168

Sclerosis and flattening Fragmentation and degeneration MR changes on the radial side (rather than ulnar impaction) Stahl classification

Answer 169

child onset osteonecrosis of the navicular bone. Mueller weiss in adults. Usually paediatrics and males.

Answer 170

wafer thin and fragmented patchy sclerosis soft tissue swelling

Answer 171

osteonecrosis of the capitellum. Typically younger kids and throwers. Usually younger than OCD of the elbow.

Answer 172

entire capitelllum affected. No intraarticular loose bodies, different to OCD elbow.

Answer 173

calcaneal aphophysitis. Usually young children and adolscents, runners and jumpers

Answer 174

chronic traction injury at the proximal end of the patellar tendon as it inserts into the inferior pole of the patella. Paediatric version of jumpers knee. Related to Osgood Schlatter disease.

Answer 175

Thickening proximal patellar tendon, hoffa fat pad stranding. Dystrophic calcification.

Answer 176

deficient mineralisation of the growth plate in paeds.

Answer 177

RF: Premature Unbalanced infant nutrition Maternal Vit D def Lack of sun exposure Path: Abnormalities in ca po4 homeostasis disrupt endochondral ossification at physes. Can be calcipenic or phosphopenic. Calcipenic - vit d def - dietary ca def - defective vit d metabolism - hereditary vit d resistance Phophopenic rickets - elevated circulating fibroblast growth factor 23 and/orrenal tubule disorders - hereditary - tumour induced - fanconi syndrome

Answer 178

Metaphyseal fraying/splaying/cupping Outward leg bowing with variable hip deformity Protrusio acetabuli Inferiorly drawn lower ribs Post treatment; harris growth arrest lines Reactive periosteum Indistinct cortex Coarse trabeculation Knees, wrist, ankle Epiphyseal plates widened and irregular Tremendous metaphysis Spurs

Answer 179

Developmental Congenital Rickets Scurvy Blounts NF1 Skeletal dysplasia OM Syphillis yaws

Answer 180

Schmid metaphyseal chondroplasia Scurvy Endocrine (GH, hyperpth, hypothyroid) Rickets

Answer 181

Anemia FD Storage disease Lead poisoning Bone dysplasia Rickets

Answer 182

most common anomlay affecting feet. Include talipes equinovarus, talipes calcaneovalgus and metatarsus varus . Boatloads of associations.

Answer 183

Hindfoot equinus - lateral talocalcaneal angle <35 Hindfoot varus - talocalcaneal angle <20 Metatarsus adductus - talus to first MT angle ?15 Talonavicular subluxation

Answer 184

complete or partial union between two or more bones in the mid/hindfoot. Incomplete or faulty segmentation. Can be bony, cartilaginous or fibrous.

Answer 185

Calcaneonvicular - anterior process - may have talus hypoplasia - anteater nose sign Talocalcaneal - middle facet - c sign - talar beak sign Talonavicular - mushroom sign Subchondral reactive change Marrow oedema Space loss osseous; marrow signal fibrous; low t1/t2 cartilaginous; intermedial t2/stir

Answer 186

Abnormal bowing due to segment of bone loss simulating appearance of a joint. Associated with NF1. Imaging - progressive bowing (anterolateral tibia) - resorption of bone segment - angulation at site - mimics appearance of a joint - often assoc fracture

Answer 187

lack of vitamin c. increased bleeding, impaired collagen synthesis and osteoporosis.

Answer 188

Osteopenia Cortical thinning Periosteal reaction Scorbutic rosary Haemarthrosis Wimberger rim sign Frankel line Trummerfeld zone Pelking spur/fracture

Answer 189

also known as congenital vertical talus, a congenital anomaly of the foot. Characterised by prominent calcaneus heel and convexly rounded sole. Results from dorsolateral dislocation of the talonavicular joint.

Answer 190

fixed equinus; plantarflexion of calcaneus vertical talus; plantarflex talus irreducible dorsal sublux of the navicular forefoot valgus ddx neonates clubfoot adults NM disorders charcot joint

Answer 191

a congenital disorder resulting in rhizomelic dwarfism. Most common skeletal dysplasia.

Answer 192

Mostly inherited, autosomal dominant. Mutation in FGFR3 on 4p16.3. Abnromal cartilage formation. Gain of function mutation with constitutive activation of inhibitory signal. All bones formed by endochondral ossification are affected, so skull vault normal.

Answer 193

Cranial: - large vault small base - frontal bossing with depressed nasal bridge - narrowed FM - elevated brainstem - CM kink - hydrocephlus - large anterior fontanelle Spinal - posterior vert scalloping - progressive interpedicular distance decrease - gibbus; kyphosis with bullet shaped vertebra - short pedicle canal stenosis - laminar thickening Chest - anterior rib flaring - Ap rib narrowing Pelvis/hips - horizontal acetabular roof - tombstone iliac wings - trident acetabulum - campagne glass pelvic inlet Limbs - metaphyseal flaring - short femora/humeri - long fibula - bowing to medial leg - tident hand - short stubby fingers, sepration 3rd and fourth - chevron sign - inverted v shaped physis

Answer 194

an inherited bleeding disorder, x linked. a and b types. Severity graded by baseline factor activity. Can get arthropathy and pseudotumours

Answer 195

joint disease occurring in haemophilia due to haemarthroses.

Answer 196

x linked recessive. haemarthroses. deposition of iron in joints, proliferation of synovium, neoangiogenesis and damage. Synovial hyperplasia, chronic inflammation, fibrosis and haemosiderosis. Cartilage erods and subarticular cysts form.

Answer 197

Joint effusion Periarticular osteoporosis Epiphyseal enlargement with gracile diaphysis Secondary degenerative changes Knee - wide intercondylar notch - squared inferior margin patella - bulbous femoral condules - flatened condylar surfaces Elbow - enlarged radial head - widened trochlea notch Ankle - Talar tilk MRI - thickened synovium with low signal - enhancing synovitis - joint effusion - cartilage loss and effusion

Answer 198

a group of heterogenous congenital non sex linked genetic disorders of collagen type 1 production invovling connective tissues and bones. Hallmark is osteoporosis and fragile bones, blue sclera, heearing loss and dental fragility.

Answer 199

Disturbance in synthesis of type 1 collagen, predominent in extracellular matrix. IN bone, results in OP. Also in detine, sclerae, ligaments, blood vessels and skin. Mutations in COL1A1 and COL1A2, encode a2 and a2 polypeptide chains. Can be sporadic, dominant or recessive.

Answer 200

1. mild 2. perinatal lethal 3. progressive deforming 4-8 variable and uncommon

Answer 201

Head/neck/spine: - basilar invagination - wormian bones - kyphoscoliosis - compression fractures - codfish vert - platyspondyl Chest - pectus excavatum/carinatum - accordion ribs Pelvis - protrusio acetabuli - coxa vara General - OP - gracile deformed bones - cortical thinning - hyperplastic callus - popcorn calc - zebra stripe sign - pseudoarthrosis

Answer 202

Polyostotic skeletal dysplasiacaused by mutation in CBFA1 gene in AD or sporadic pattern. Incomplete intramembranous ossification of midline skeletal structures, clavicles and pelvis

Answer 203

Skull - multiple wormian bones - wide sutures/fontanelles - frontal/parietal bossing - basilar invagination - supernumery teeth - metopic suture - abnormal ear structures Chest - hypo/aplastic clavicles - supernumery ribs - hemivetebrae - small and high scapulae Pelvis - hypoplastic iliac bones - delayed pubic ossification, PS widening Limbs - short/absent fib/radius - coxa vara - hypoplastic phalanges

Answer 204

a group of heterogenous disorders, one of a number of lysosomal storage disorders. Excessive accumulation of mucopolysaccharides.

Answer 205

MPS 1 - hurler - scheie - hurler sheie MPS 2 Hunter MPS 3 sanflippo MPS 4 morquio MPS 6 maroteauz lam syndrome MPS 7 sly syndrome MPS 9 natowicz

Answer 206

CNS - macrocephaly - prominent perivascular spaces - atrophy/white matter change - hydrocephalus - j shaped sella CM junction - C1/2 subluxation - narrowing of FM Skeletal - concave mandibular condyle - shortening/widening long bones - widened anterior ribs - thoracolumbar kyphosis - anterior vert body beaking Heart - valvolopathy - cad - cardiomegaly Hepatosplenomegaly

Answer 207

x linked recessive MPS. Similar clinical features to Hurler without corneal clouding.

Answer 208

thoracolumbar kyphosis hip dysplasia genu valgum spinal cord compression enlargement of skull calvarial vault thickneing broad clavicles/ribs hypoplastic epiphyses and coarse diaphyses brain hydrocephalus and ventriculomegaly enlarged subarachnoid spaces patchy white/grey matter abnormalities

Answer 209

excess keratan sulphate due to deficit in its degradation pathway, buildup in annulus and corneas.

Answer 210

Calvarial - hypertelorism - dolicocephaly Axial - platyspondyly - hypoplasia odontoid - atlantoaxial subluxation - os odontoideum - anterior central vertebral body beaking - round vertebral bodies - coxa valga - goblet shaped iliac wings Peripheral - short and wide tubular bones - metaphyseal flaring - multiple epiphyseal centers - wide metacarpals - irregular carpal bones - flattened proximal femoral epiphysis - coxa valga - genu valgum Thorax - anterior sternal bowing - wide ribs - late onset AR

Answer 211

uncommon hereditary d/o resulting from defetive osteoclasts. Bones become sclerotic but fragile due to abnormal structure.

Answer 212

Fractures. Crowding of the marrow, resulting in anaemia EMH, splenomegaly. Congenital abnormalitie with localised chromosomal defects. Autosomal dominant and recessive types.

Answer 213

Clinical - FTT - Bone marrow failure - ocular distubrance - stillborn Path - more severe, infantile, malignant - Congenital - 11q13 - defective osteoclast function and overgrowth - disordered achitecture weak and brittle

Answer 214

XR Bone in bone Mandible condylar calcification in ossification centre Defective dentition Underpneumatised PN sinuses Hypertelorism Hair on end

Answer 215

Clinical - less severe, later onset, benign/adult - fractures - cranial nerve compression - hepatosplenomegaly Path - deficiency in osteoclast function - dense bones wack architecture

Answer 216

Bone in a bone Erlenmeyer flask deformity Sandwich vertebrae Alternating radiolucent bands

Answer 217

hereditary condition resulting in formation of abnormal haemoglobin manifests as multisystem ischaemia and infarction.

Answer 218

mutation in gene coding for beta chain of haemoglobin molecule termed HbS. Molecules clump together into long polymers making the RBC elongated and sickle shaped, rigid and unable to deform properly. Also removed quicker causing anaemia.

Answer 219

Chest - acute chest - chronic chest Skeletal - can be due to vasoocclusive, chronic anaemia or infection Vasoocclusive - osteonecrosis - h shaped/tower/vanishing vert - subperiosteal/epidural haemorrhage - hand foot syndrome Chronic anaemia