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PART 2 > PAEDIATRICS > Flashcards

PAEDIATRICS Flashcards

1
Q

Dysgenesis of the corpus callosum is

A

a complete or partial in utero developmental abnormality. Can be primary or secondary.

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2
Q

Dysgenesis of the corpus callosum imaging

A

Antenatal:
Third ventricle
- dilated
- displaced
Lateral ventricles
- widely spaced parallel bodies (racing car)
- small frontal horns
- colpocephaly
Septum pellucidum
- absent
Interhemispheric fissures widened
Sunray appearance of the gyri
Abnormal course of the pericallosal arteries

MRI
Racing car ventricles
Colpocephaly
Texas longhorn (coronal)
High riding third ventricle
Probst bundles
Radial gyri, absent cingulate
Hypoplastic fornices, hippocampi

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3
Q

Chiari malformations are

A

A group of defects associated with congenital caudal displacement of the cerebellum and brainstem

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4
Q

Chiari malformation classification

A

Chiari 1
- most common
- peg like cerebellar tonsilar diaplcement

Chiari 1.5
- Caudal descent of tonsils and brainstem

Chiari 2
- Displacement of medullar, fourth ventricle and cerebllar vermis
- Associated with lumbosacral spinal myelomeningocele

Chiari 3
- Similar to 2 but with an occipital or high cervical encephalocele

Chiari 4
- severe cerebellar hypoplasia without displacement

Chiari 5
- absent cerebellum
- herniation of occipital lobe

Chiari 0
- synrinx without cerebellar, tonsillar or brainstem displacement

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5
Q

Chiari 1 malformation differentials

A

Tonsillar ectopia <5mm
Chiari 1.5
Chiari 2
Acquired tonsillar ectopia
- IIH
- tonsillar herniation
- craniospinal hypotension
- basilar invagination

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6
Q

Chiari 1.5 is

A

combination of tonsillar herniation along with herniation of some portion of the brainstem

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7
Q

Chiari 1.5 pathology

A

Chiari 1 with smaller psoterior fossa that leads to overcrowding and caudal displacement

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8
Q

Chiari 1.5 imaging

A

> 12mm suggests 1.5

Associatied findings
- posterior angulation of the odontoid process
- hydrocephalus
- crowded and small posterior fossa
- syringohydromyelia
- scoliosis

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9
Q

Chiari 2 are

A

relatively common congenital malformation characterised by a small posterio fossa, myelomeningocoele and descent of the brainstem, tonsils and vermis

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10
Q

Chiari 2 clinical

A

varied presentation, can depend on age

neonate
- myeolomeningocoele
- brainstem dysfx
- neurogenic bladder
child
- musculoskeletal
- hydrocephalus
young adult
- syrinx and scoliosis

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11
Q

Chiari 2 imaging

A

Antenatal
- Lemon sign
- banana cerebellum
- fetal ventriculomegaly
- may have associated malformations

MRI
posterior fossa
- small, low tentorium attachement and low torcula
- brainstem pulled, elongated fourth ventricle
- beaked tectal plate, elongated inferior colliculus, angulation of the aqueduct
- tonsils and vermis are displaced inferiorly
spine
- myelomeningocoele
- tethered cord

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12
Q

Chiari 3 is

A

an extremely rare anomaly characterised by low occipital and high cervical encephalocoele with herniation of the posterior fossa contents

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13
Q

Chiari 3 associations

A

agenesis of the corpus callosum

syringohydromyelia of the cervical cord

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14
Q

Germinal matrix haemorrhage is

A

also known as periventricular intraventricular haemorrhage. Commonest type of ICH in neonates. related to perinatal stress affecting highly vascularised subependymal germinal matrix.

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15
Q

Germinal matrix haemorrhage epidemiology

A

can only occur when GM is present, therefore only seen in premature infants. 67% 28-32 weeks. 80% between 23 and 24 weeks.

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16
Q

Germinal matrix haemorrhage pathology

A

GM formed during embryogenesis, site of glial and neuronal differentiation. Densely cellular and vascular.

Vessels are weak walled and predisposed to haemorrhage. Stress experiences by premature infant after birth causes rupture.

Direct relation between prematurity, GM and number of capillaries.

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17
Q

Germinal matrix haemorrhage imaging

A

US
- echogenic regions close to caudothalamic groove along floor of frontal horn

CT
- high attenuating
- with Grade 4, large confluent regions of low density are venous infarction. patchy regions of hyperdensity seen in the periventricular regions (flame shaped)

MRI
- ageing of blood

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18
Q

Germinal matrix haemorrhage complications

A

post haemorrhagic hydrocephalus

obliterative fibrosing arachnoiditis

periventricular leukomalacia

cyst formation
- cavitation of haemorrhage
- subependymal cyst
- unilocular porencephalic cyst

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19
Q

Germinal matrix haemorrhage differentials

A
  • normal choroid plexus
  • IVH of the neborn
  • early periventricular leukomalacia
  • hypoxic ischaemic brain injury (involves subcortical cerebral or basal ganglia, more in term infants)
  • TORCH CNS infections
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20
Q

Germinal matrix haemorrhage classifications

A

1 - restrictured to GM
2 - extension to ventricules <50% volume
3 - extension into dilated ventricules
4 - grade 3 with parenchymal haemorrhage

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21
Q

Craniopharyngioma is

A

a relatively benign (grade 1) neoplasm. Typically sellar/suprasellar, but anywhere along infundibulum. Can be adamnatinomatous or papillary.

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22
Q

Craniopharyngioma pathology

A

Derived from Rathke cleft.

Adamantinomatous
- children
- reticular epithelial cells, looks like pulp of teeth
- single or multiple cysts with thick oily fluid
- wet keratin nodules
- calcification 90%

Papillary
- adults
- metaplastic squamous cells
- no wet keratin
- cysts arent predominant, more solid
- calcification is uncommon

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23
Q

Craniopharyngioma general features

A

Primarily suprasellar 75%, with a small intrasellar component in 25%. purely intrasellar is uncommon. May have expanded pit fossa. Can extend in all directions.

Occassionally, intraventricular, homogenous, soft tissue masses. Third ventricle.

Rare or ectopic; nasopharynx, posterior fossa, extension down spine

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24
Q

Craniopharyngioma adamantinomatous imaging

A

Lobulated contour, multicystic. Solid components present but minor, enhance. Calcification is common. Predilection to being large and extensive

CT
- low density, large dominant cysts
- solid components enhance 90%
- calfication 90%, stippled, peripheral

MRI
cysts
- T1: iso to hyper
- T2L variable, mostly hyper
Solid
- C+: vivide
- T2 variable
Calcification
MRA: displaced Ai segment ACA
MRS: broad lipid spectrum

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25
Q

Craniopharyngioma papillary imaging

A

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

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26
Q

Craniopharyngioma differentials

A

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

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27
Q

Schizencephaly is

A

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

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28
Q

Schizencephaly imaging and associations

A

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

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29
Q

Schizencephaly differentials

A

Focal cortical dysplasia

Heterotopic grey matter

Porencephaly

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30
Q

Lissencephaly type 1 - subcortical band heterotopia spectrum is

A

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

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31
Q

Lissencephaly type 1 - subcortical band heterotopia spectrum imaging

A

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

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32
Q

Lissencephaly type II - cobblestone is

A

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

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33
Q

Lissencephaly type II - cobblestone imaging

A

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

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34
Q

Grey matter heterotopia is

A

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

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35
Q

Grey matter heterotopia classification

A

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

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36
Q

Polymicrogyria is

A

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

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37
Q

Polymicrogyria features

A

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

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38
Q

Holoprosencephaly is

A

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

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39
Q

Holoprosencephaly clinical

A

Midline facial anomalies
- proboscis
- cyclopia
- cleft lip/palate
- ocular hypotelorism
- solitary median maxially central incisror

Non craniofacial
- genital
- polydactyly
- vertebral
- limb reduciton
- transposition

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40
Q

Holoprosencephaly path

A

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

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41
Q

Holoprosencephaly imaging

A

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

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42
Q

Septic optic dysplasia is

A

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

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43
Q

Septic optic dysplasia clinical/subtypies and assoc

A

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

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44
Q

Alobar holoprosencephaly imaging

A

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

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45
Q

Semilobar holoprosencephaly imaging

A

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

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46
Q

Lobar holoprosencephaly imaging

A

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

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47
Q

Dandy walker malformation is

A

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

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48
Q

Dandy walker malformation imaging

A

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

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49
Q

Dandy walker variant is

A

a less severe posterior fossa anomaly than classic DWM

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50
Q

Dandy walker variant imaging

A

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

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51
Q

Blakes pouch cyst is

A

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

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52
Q

Blakes pouch cyst pathology

A

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.

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53
Q

Blakes pouch cyst imaging

A
  • 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
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54
Q

Vein of Galen AVM pathology

A

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

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55
Q

Vein of Galen AVM classification

A

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

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56
Q

Vein of galen AVM imaging

A

US
Dilated MPV
Prominent flow on Doppler
hydrops/fetal cardiomegaly

CTA
- challenging

MRA
- gold std
- varix and drainage

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57
Q

Choanal atresia is

A

lack of formation of the choanal openings. Can be unilateral or bilateral, osseous or membranous.

Most commonly unilateral 66% and osseous 90%

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58
Q

Choanal atresia imaging

A

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

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59
Q

CHARGE syndrome quick hit

A

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)

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60
Q

Hypoxic ischaemic encephalopathy pathology

A

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.

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61
Q

PDA is

A

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

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62
Q

PDA imaging

A

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

Echo

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63
Q

PDA classification

A

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

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64
Q

Coarctation types

A

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

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65
Q

Coarctation imaging

A

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

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66
Q

Heterotaxy types

A

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

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67
Q

Interrupted arch is

A

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

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68
Q

Interrupted arch types

A

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

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69
Q

interrupted arch assoc

A

DiGeorge syndrome
Truncus
AP septal defect
Transposition
Double outlet right ventricle

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70
Q

Double arch is

A

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

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71
Q

Double arch types

A

right dominant
left dominant
codominant

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72
Q

Right arch types

A

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

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73
Q

Vascular rings and slings causes include

A

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
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74
Q

Ebstein anomaly is

A

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.

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75
Q

Ebstein imaging

A

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

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76
Q

VSD classification

A

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

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77
Q

ASD classification

A

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

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78
Q

Lutembacher syndrome

A

ASD and MS

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79
Q

Holt Oram

A

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

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80
Q

TAPVR is

A

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

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81
Q

TAPVR types

A

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

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82
Q

TAPVR imaging

A

Supracardiac - snowman, figure 8, cottage loaf

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83
Q

Truncus arteriosus is

A

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

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84
Q

Truncus arteriosus path

A

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

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85
Q

Truncus arteriosus classification

A

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

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86
Q

Truncus arteriosus imaging

A

moderate cardiomegaly
pulmonary plethora, collaterals
wide mediastinum

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87
Q

Transposition of the great arteries is

A

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

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88
Q

Transposition of the great arteries imaging

A

egg on a string

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89
Q

Tetralogy of fallot is

A

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

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90
Q

Tetralogy of fallot assoc

A

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

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91
Q

Tetralogy of fallot imaging

A

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

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92
Q

Cyanotic CHD

A

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

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93
Q

Acyanotic CHD

A

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

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94
Q

Uhls anomaly

A

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

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95
Q

Pentalogy of cantrell

A

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

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96
Q

Benign enlargement of the subarachnoid spaces in infancy (BESS) is

A

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.

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97
Q

Benign enlargement of the subarachnoid spaces in infancy (BESS) imaging

A

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

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98
Q

Intracranial dermoid cyst pathology

A

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

99
Q

Intracranial dermoid cyst imaging

A

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

100
Q

Intracranial dermoid differentials

A

Intracranial lipoma - chem shift, homogenous

epidermoid - restricted diffusion

immature teratoma - usually pineal

craniopharyngioma - strikingly hyperintense on t2, enhance

101
Q

Intracranial epidermoid cyst are

A

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.

102
Q

Intracranial epidermoid pathology

A

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

103
Q

Intracranial epidermoid location

A

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

104
Q

Intracranial epidermoid imaging

A

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

105
Q

Intracranial epidermoid diffys

A

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

106
Q

Branchial cleft anomalies pathology

A

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.

107
Q

Branchial cleft anomalies types

A

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

108
Q

Branchial cleft cyst differentials

A

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

109
Q

Fibrous dysplasia is

A

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

110
Q

Fibrous dysplasia subtypes

A

Monostotic
polyostotic
craniofacial
cherubism (mandible/maxilla)

111
Q

Fibrous dysplasia epidemiology and associations

A

Mostly children and young adults

Assoc:
- mccune albright syndrome
- mazabraud syndrome
- isolated endocrinopathy without full mccune

112
Q

Fibrous dysplasia imaging

A

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

113
Q

McCune Albright pop quiz

A

precocious puberty
polyostotic fibrous dysplasia
caffe au lait spots

114
Q

Mazabraud syndrome pop quiz

A

fibrous dysplasia
intramuscular myxomas

115
Q

Rathke cleft cysts are

A

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

116
Q

Rathke cleft cyst imaging

A

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

117
Q

Rathke cleft cyst jenny diffys

A

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

118
Q

NF1 is

A

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

119
Q

NF1 clinical dx

A

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

120
Q

NF1 associated neoplasms

A

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

121
Q

NF1 path

A

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

122
Q

NF1 imaging features

A

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

123
Q

NF2 pathology

A

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.

124
Q

NF2 findings

A

MISME - multiple inherited schwannomas, meningiomas, ependymomas

bilateral acoustic neuromas - pathognomonic

meningiomas in a youth - suss

125
Q

Tuberous sclerosis is

A

a phakomatosis characterised by multiple tumours of the embryonic ectoderm.

126
Q

Tuberous sclerosis pathology

A

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

127
Q

Tuberous sclerosis imaging

A

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

128
Q

Tuberous sclerosis mnemonic

A

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

129
Q

VHL is

A

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

130
Q

VHL distribution/imaging

A

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

131
Q

VHL mnemonic

A

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

132
Q

Choroid plexus papillomas are

A

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

133
Q

Choroid plexus papilloma associations

A

Aicardi syndrome
VHL

134
Q

Choroid plexus papilloma location

A

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

135
Q

Choroid plexus papilloma imaging

A

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

136
Q

Choroid plexus papilloma diffys

A

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

137
Q

Choroid plexus carcinomas are

A

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

138
Q

Choroid plexus carcinoma associations

A

Assoc
- Li Fraumeni
- Aicardi
- Simian virus 40

139
Q

Choroid plexus carcinoma imaging

A

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

140
Q

Retinoblastoma is

A

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

141
Q

Retinoblastoma epidemiology and path

A

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

142
Q

Retinoblastoma imaging

A

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

143
Q

Pineal region mass differentials

A

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

144
Q

Parinaud syndrome

A

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

145
Q

Pituitary region lesions

A

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

146
Q

LCH epidemiology, clinical and path

A

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

147
Q

LCH CNS manifestation

A

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

148
Q

Rhabdomyosarcoma is

A

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

149
Q

Rhabdomyosarcoma pathology

A

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

150
Q

Rhabdomyosarcoma imaging

A

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

151
Q

Moya Moya disease is

A

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

152
Q

Moya Moya disease epidemiology, clinical, path

A

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

153
Q

Moya Moya disease imaging

A

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)

154
Q

Laryngomalacia is

A

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

155
Q

Laryngomalacia path

A

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.

156
Q

Tracheomalacia definition and causes

A

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

157
Q

Pulmonary aplasia is

A

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

158
Q

Pulmonary aplasia features

A

XR
white out
ipsilatral colume loss, contralateral hyperinflation

CT
absent parenchyma
shift
absent PA
bronchus remnant

159
Q

Pulmonary hypoplasia is

A

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

160
Q

Pulmonary hypoplasia aetiology

A

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

161
Q

Swyer James syndrome is

A

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

162
Q

Swyer james features

A

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

163
Q

Kartageners syndrome is

A

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)

164
Q

Kartageners imaging

A

XR
situs
bronchiectasis

CT
may have plugging, tib, consolidation, air trapping

165
Q

Primary ciliary dyskinesia is

A

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

166
Q

Primary ciliary dyskinesia path and assoc

A

complete or partial absence of dynein arms
radial spoke defect
microtubular transposition

Syndromes
- kartageners
- young

Non syndrom
- pectus
- hydrocephalus
- congenital heart disease
- biliary atresia

167
Q

Primary ciliary dyskinesia imaging

A

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

168
Q

Williams campbell syndrome

A

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

169
Q

DDH risk factors

A

female
firstborn
fhx
breech
oligohydramnios

170
Q

DDH imaging

A

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

171
Q

Fibrous dysplasia patterns

A

mono
poly (syndromes)
craniofacial
cherubism

172
Q

Fibrous dysplasia pathology

A

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

173
Q

Fibrous dysplasia imaging

A

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

174
Q

Mccune albright + maazabraud

A

endocrinopath
Poly FD
cafe au lait

FD
intramuscular myxomas

175
Q

Osgood Schlatter is

A

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

176
Q

Osgood Schlatter imaging

A

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

177
Q

Perthes is

A

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

178
Q

Perthes imaging

A

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)

179
Q

Waldenstrom classification perthes

A

temporal phases xray abnormalities

1; early (early change)
2; fragmentation (later changes)
3; reparative; reossification
4; healed

180
Q

Catterall classification perthes

A

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

181
Q

SUFE is

A

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

182
Q

SUFE path

A

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

183
Q

SUFE imaging

A

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

184
Q

Thalassemia path

A

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.

185
Q

Thalassemia imaging

A

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

186
Q

Hair on end differentials

A

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

187
Q

VACTERL association

A

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)

188
Q

osteochondroses include

A

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

189
Q

Freibergs is

A

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

190
Q

Freibergs imaging

A

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

191
Q

Kienbocks disease is

A

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.

192
Q

Kienbocks imaging

A

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

193
Q

Kohler disease is

A

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

194
Q

Kohler disease imaging

A

wafer thin and fragmented
patchy sclerosis
soft tissue swelling

195
Q

Panner disease is

A

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

196
Q

Panner disease imaging

A

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

197
Q

Sever disease is

A

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

198
Q

Sinding Larsen Johansson disease is

A

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.

199
Q

Sinding Larsen Johansson imaging

A

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

200
Q

Rickets is

A

deficient mineralisation of the growth plate in paeds.

201
Q

Rickets RFs and path

A

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

202
Q

Rickets imaging

A

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

203
Q

Leg bowing differential

A

Developmental
Congenital
Rickets
Scurvy
Blounts
NF1
Skeletal dysplasia
OM
Syphillis
yaws

204
Q

Widened growth plate differential

A

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

205
Q

Flaring metaphysis differential

A

Anemia
FD
Storage disease
Lead poisoning
Bone dysplasia
Rickets

206
Q

Congenital talipes is

A

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

207
Q

Congenital talipes imaging

A

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

208
Q

Tarsal colation is

A

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

209
Q

Tarsal coalition imaging

A

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

210
Q

Congenital pseudoarthrosis of the tibia is and imaging

A

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

211
Q

Scurvy is

A

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

212
Q

Scurvy imaging

A

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

213
Q

Rocker bottom foot is

A

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.

214
Q

Rocker bottom foot imaging

A

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

215
Q

Achondroplasia is

A

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

216
Q

Achondroplasia path

A

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.

217
Q

Achondroplasia imaging

A

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

218
Q

Haemophilia is

A

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

219
Q

Haemophilic arthropathy is

A

joint disease occurring in haemophilia due to haemarthroses.

220
Q

Haemophilic arthropathy path

A

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.

221
Q

Haemophilic arthorpathy imaging

A

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

222
Q

Osteogenesis imperfecta is

A

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.

223
Q

Osteogenesis imperfecta path

A

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.

224
Q

Osteogenesis imperfecta classification

A
  1. mild
  2. perinatal lethal
  3. progressive deforming
    4-8 variable and uncommon
225
Q

Osteogenesis imperfecta imaging

A

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

226
Q

Cleidocranial dysostosis path

A

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

227
Q

Cleidocranial dysostosis imaging

A

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

228
Q

Mucopolysaccharidoses is

A

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

229
Q

Mucopolysaccharidoses subtypes

A

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

230
Q

Hurler syndrome imaging

A

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

231
Q

Hunter syndrome is

A

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

232
Q

Hunter syndrome imaging

A

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

233
Q

Morquio syndrome path

A

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

234
Q

Morquio syndrome imaging

A

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

235
Q

Osteopetrosis is

A

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

236
Q

Osteopetrosis pathology

A

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

237
Q

Autosomal recessive osteopetrosis path

A

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

238
Q

AR osteopetrosis imaging

A

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

239
Q

Autosomal dominant osteopetrosis path

A

Clinical
- less severe, later onset, benign/adult
- fractures
- cranial nerve compression
- hepatosplenomegaly

Path
- deficiency in osteoclast function
- dense bones wack architecture

240
Q

AD osteopetrosis imaging

A

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

241
Q

Sickle cell disease is

A

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

242
Q

Sickle cell path

A

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.

243
Q

Sickle cell imaging

A

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

PART 2 (11 decks)

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