PAEDIATRICS Flashcards
Dysgenesis of the corpus callosum is
a complete or partial in utero developmental abnormality. Can be primary or secondary.
Dysgenesis of the corpus callosum imaging
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
Chiari malformations are
A group of defects associated with congenital caudal displacement of the cerebellum and brainstem
Chiari malformation classification
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
Chiari 1 malformation differentials
Tonsillar ectopia <5mm
Chiari 1.5
Chiari 2
Acquired tonsillar ectopia
- IIH
- tonsillar herniation
- craniospinal hypotension
- basilar invagination
Chiari 1.5 is
combination of tonsillar herniation along with herniation of some portion of the brainstem
Chiari 1.5 pathology
Chiari 1 with smaller psoterior fossa that leads to overcrowding and caudal displacement
Chiari 1.5 imaging
> 12mm suggests 1.5
Associatied findings
- posterior angulation of the odontoid process
- hydrocephalus
- crowded and small posterior fossa
- syringohydromyelia
- scoliosis
Chiari 2 are
relatively common congenital malformation characterised by a small posterio fossa, myelomeningocoele and descent of the brainstem, tonsils and vermis
Chiari 2 clinical
varied presentation, can depend on age
neonate
- myeolomeningocoele
- brainstem dysfx
- neurogenic bladder
child
- musculoskeletal
- hydrocephalus
young adult
- syrinx and scoliosis
Chiari 2 imaging
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
Chiari 3 is
an extremely rare anomaly characterised by low occipital and high cervical encephalocoele with herniation of the posterior fossa contents
Chiari 3 associations
agenesis of the corpus callosum
syringohydromyelia of the cervical cord
Germinal matrix haemorrhage is
also known as periventricular intraventricular haemorrhage. Commonest type of ICH in neonates. related to perinatal stress affecting highly vascularised subependymal germinal matrix.
Germinal matrix haemorrhage epidemiology
can only occur when GM is present, therefore only seen in premature infants. 67% 28-32 weeks. 80% between 23 and 24 weeks.
Germinal matrix haemorrhage pathology
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.
Germinal matrix haemorrhage imaging
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
Germinal matrix haemorrhage complications
post haemorrhagic hydrocephalus
obliterative fibrosing arachnoiditis
periventricular leukomalacia
cyst formation
- cavitation of haemorrhage
- subependymal cyst
- unilocular porencephalic cyst
Germinal matrix haemorrhage differentials
- 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
Germinal matrix haemorrhage classifications
1 - restrictured to GM
2 - extension to ventricules <50% volume
3 - extension into dilated ventricules
4 - grade 3 with parenchymal haemorrhage
Craniopharyngioma is
a relatively benign (grade 1) neoplasm. Typically sellar/suprasellar, but anywhere along infundibulum. Can be adamnatinomatous or papillary.
Craniopharyngioma pathology
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
Craniopharyngioma general features
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
Craniopharyngioma adamantinomatous imaging
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
Craniopharyngioma papillary imaging
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
Craniopharyngioma differentials
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
Schizencephaly is
a rare cortical malformation manifested by a grey matter lined cleft extending from ependyma to pia mater
Schizencephaly imaging and associations
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
Schizencephaly differentials
Focal cortical dysplasia
Heterotopic grey matter
Porencephaly
Lissencephaly type 1 - subcortical band heterotopia spectrum is
group of disorders of cortical formation characterised by a smooth brain, absent or hypoplastic sulci and strongly assoc with subcortical band heterotopia
Lissencephaly type 1 - subcortical band heterotopia spectrum imaging
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
Lissencephaly type II - cobblestone is
characterised by reduction in normal sulcation associated with a bumpy or pebbly cortical surface. Due to overmigration.
Lissencephaly type II - cobblestone imaging
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
Grey matter heterotopia is
a relatively common group of conditions characterised by interruption of the normal neuronal migration from near the ventricle to the cortex.
Grey matter heterotopia classification
Nodular
- subependymal
- subcortical
Diffuse
- band heterotopia
- lissencephaly 1 and 2
- Laminar heterotopia
Polymicrogyria is
one of the malformations of cortical development characterised by abnormalities in both migration and cortical organisation
Polymicrogyria features
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
Holoprosencephaly is
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
Holoprosencephaly clinical
Midline facial anomalies
- proboscis
- cyclopia
- cleft lip/palate
- ocular hypotelorism
- solitary median maxially central incisror
Non craniofacial
- genital
- polydactyly
- vertebral
- limb reduciton
- transposition
Holoprosencephaly path
failure of developing brain division. Variable loss of midline structures as well as fusion of the lateral and third ventricles
Holoprosencephaly imaging
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
Septic optic dysplasia is
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
Septic optic dysplasia clinical/subtypies and assoc
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
Alobar holoprosencephaly imaging
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
Semilobar holoprosencephaly imaging
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
Lobar holoprosencephaly imaging
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
Dandy walker malformation is
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
Dandy walker malformation imaging
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
Dandy walker variant is
a less severe posterior fossa anomaly than classic DWM
Dandy walker variant imaging
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
Blakes pouch cyst is
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
Blakes pouch cyst pathology
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.
Blakes pouch cyst imaging
- 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
Vein of Galen AVM pathology
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
Vein of Galen AVM classification
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
Vein of galen AVM imaging
US
Dilated MPV
Prominent flow on Doppler
hydrops/fetal cardiomegaly
CTA
- challenging
MRA
- gold std
- varix and drainage
Choanal atresia is
lack of formation of the choanal openings. Can be unilateral or bilateral, osseous or membranous.
Most commonly unilateral 66% and osseous 90%
Choanal atresia imaging
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
CHARGE syndrome quick hit
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)
Hypoxic ischaemic encephalopathy pathology
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.
PDA is
a congenital cardiac anomaly where there is persistent patency of the DA
PDA imaging
XR
dependant on assoc conditions
LA/LV enlargement
AP window obscured
Pulmonary oedema
Echo
PDA classification
Krichenko (CT)
A: conical ductus
B: window, short and wide ductus
C: long tubular ductus
D: multiple constrictions
E: elongated with remote constriction
Coarctation types
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
Coarctation imaging
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
Heterotaxy types
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
Interrupted arch is
separation bw the ascending and descending aorta. Can be complete or connected by a fibrous band. Large VSD/PDA usually present.
Interrupted arch types
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
interrupted arch assoc
DiGeorge syndrome
Truncus
AP septal defect
Transposition
Double outlet right ventricle
Double arch is
most common symptomatic arch variant, 50-60% of vascular rings.
Double arch types
right dominant
left dominant
codominant
Right arch types
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
Vascular rings and slings causes include
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
Ebstein anomaly is
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.
Ebstein imaging
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
VSD classification
membranous/perimembranous, including the gerbode defect
inlet
outlet
muscular/trabecular
ASD classification
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
Lutembacher syndrome
ASD and MS
Holt Oram
ASD/VSD
Coarctation
Radial ray anomalies
Thumb anomalies
Phocomelia
Clavicle hypoplasia
TAPVR is
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
TAPVR types
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
TAPVR imaging
Supracardiac - snowman, figure 8, cottage loaf
Truncus arteriosus is
a cyanotic congenital anomaly. Single trunk supplied pulmonary and systemic circulation. Classified as a conotruncal anomaly. Usually assoc with a VSD.
Truncus arteriosus path
lack of normal separation of the embyrological truncus into aorta and PT
Truncus arteriosus classification
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
Truncus arteriosus imaging
moderate cardiomegaly
pulmonary plethora, collaterals
wide mediastinum
Transposition of the great arteries is
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
Transposition of the great arteries imaging
egg on a string
Tetralogy of fallot is
the most common cyanotic congenital heart condition.
VSD, RVOTO, overriding aorta, late RVH
Tetralogy of fallot assoc
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
Tetralogy of fallot imaging
boot shaped heart; upturned cardiac apex due to RVH and concave PA segment
Pulmonary oligaemia
Right arch 25%
Cyanotic CHD
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
Acyanotic CHD
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
Uhls anomaly
Absent RV myocardium, normal tricuspid valve, preserved septal and LV myocardium
Pentalogy of cantrell
Omphalocoele
Ectopia cordis
Diaphragm defect
Pericardial defect
CV malformation; VSD, ASD, TOF, LV diverticulum
Benign enlargement of the subarachnoid spaces in infancy (BESS) is
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.
Benign enlargement of the subarachnoid spaces in infancy (BESS) imaging
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
Intracranial dermoid cyst pathology
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
Intracranial dermoid cyst imaging
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
Intracranial dermoid differentials
Intracranial lipoma - chem shift, homogenous
epidermoid - restricted diffusion
immature teratoma - usually pineal
craniopharyngioma - strikingly hyperintense on t2, enhance
Intracranial epidermoid cyst are
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.
Intracranial epidermoid pathology
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
Intracranial epidermoid location
intradural 90%
- CP angle 50%
- suprasellar cistern
- fourth ventricle
- middle cranial fossa
- interhemispheric
- spinal rare
extradural 10%
Intracranial epidermoid imaging
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
Intracranial epidermoid diffys
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
Branchial cleft anomalies pathology
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.
Branchial cleft anomalies types
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
Branchial cleft cyst differentials
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
Fibrous dysplasia is
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
Fibrous dysplasia subtypes
Monostotic
polyostotic
craniofacial
cherubism (mandible/maxilla)
Fibrous dysplasia epidemiology and associations
Mostly children and young adults
Assoc:
- mccune albright syndrome
- mazabraud syndrome
- isolated endocrinopathy without full mccune
Fibrous dysplasia imaging
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
McCune Albright pop quiz
precocious puberty
polyostotic fibrous dysplasia
caffe au lait spots
Mazabraud syndrome pop quiz
fibrous dysplasia
intramuscular myxomas
Rathke cleft cysts are
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
Rathke cleft cyst imaging
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
Rathke cleft cyst jenny diffys
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
NF1 is
also known as von recklinghausen disease. Multisystem neurocutaneous disorder, phakamatosis and RASopathy.
NF1 clinical dx
Cafe au lait
Axillary/inguinal freckling
Fibromas (2 or more)
Eye hamartomas
Skeletal abnormalities
Positive family history
OT optic tumour
NF1 associated neoplasms
Phaechromocytoma
MPNST
Wilms
Rhabdomyosarc
Renal AML
Glioma - JPA, optic nerve, DPG, spinal astrocytoma
Carcinoid
Leimyomas
Ganglioglioma
Leukaemia
NF1 path
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
NF1 imaging features
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
NF2 pathology
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.
NF2 findings
MISME - multiple inherited schwannomas, meningiomas, ependymomas
bilateral acoustic neuromas - pathognomonic
meningiomas in a youth - suss
Tuberous sclerosis is
a phakomatosis characterised by multiple tumours of the embryonic ectoderm.
Tuberous sclerosis pathology
Autosomal dominant or spontaneous. Two tumour suppressor genes, both part of the mTOR pathway; TSC1 (hamartin, 9q32-34), TSC2 (tuberin, 16p13.3).
Tuberous sclerosis imaging
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
Tuberous sclerosis mnemonic
Hamartomas (CNS/retinal/skin)
Angiofibromas (facial) or adenoma sebaceum
Mitral regurgitation
Ash leaf spots
Rhabdomyomas, cardiac
Tubers
Otosomal dominant
Mental retardation
AML
Seizures, shagreen
VHL is
characterised by numerous benign and malignant tumours in different organs due to mutatoins in the VHL tumour suppresor gene on chromosome 3
VHL distribution/imaging
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
VHL mnemonic
Haemangioblastoma
Incr risk RCC
Phaechromocytoma
Pancreatic lesions (cyst, cystadeno, cystadenocarc)
Eye (retinal haemangioblastoma), Endolymp sac
Liver, renal, pancr cysts
Choroid plexus papillomas are
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
Choroid plexus papilloma associations
Aicardi syndrome
VHL
Choroid plexus papilloma location
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
Choroid plexus papilloma imaging
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
Choroid plexus papilloma diffys
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
Choroid plexus carcinomas are
malignant neoplasms of the choroid plexus. WHO grade 3. Predominantly in children <5.
Choroid plexus carcinoma associations
Assoc
- Li Fraumeni
- Aicardi
- Simian virus 40
Choroid plexus carcinoma imaging
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
Retinoblastoma is
the most common intraocular neoplasm in children. Heterogenous retinal mass with calcifications, necrosis and vascularity
Retinoblastoma epidemiology and path
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
Retinoblastoma imaging
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
Pineal region mass differentials
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
Parinaud syndrome
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
Pituitary region lesions
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
LCH epidemiology, clinical and path
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
LCH CNS manifestation
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
Rhabdomyosarcoma is
a malignant tumour with skeletal muscle cell morphology
Most common soft tissue tumour in children
65% under 10, usually young patients
Slight male predilection
Rhabdomyosarcoma pathology
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
Rhabdomyosarcoma imaging
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
Moya Moya disease is
an idiopathic non inflammatory non atherosclerotic progressive vasculoocclusive disease invovling the terminal supraclinoid ICAs and COW
Moya Moya disease epidemiology, clinical, path
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
Moya Moya disease imaging
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)
Laryngomalacia is
common cause of noisy breathing in infants. Congenital abnormality of the cartilage in the larynx resulting in dynamic partial supraglottic collapse during breathing
Laryngomalacia path
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.
Tracheomalacia definition and causes
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
Pulmonary aplasia is
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
Pulmonary aplasia features
XR
white out
ipsilatral colume loss, contralateral hyperinflation
CT
absent parenchyma
shift
absent PA
bronchus remnant
Pulmonary hypoplasia is
incomplete development of parts of the lung, characterised by bronchi and alveoli in an underdeveloped lobe.
Pulmonary hypoplasia aetiology
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
Swyer James syndrome is
a rare condition of unilateral hemithorax lucency as a result of post infectious obliterative bronchiolitis
Swyer james features
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
Kartageners syndrome is
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)
Kartageners imaging
XR
situs
bronchiectasis
CT
may have plugging, tib, consolidation, air trapping
Primary ciliary dyskinesia is
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
Primary ciliary dyskinesia path and assoc
complete or partial absence of dynein arms
radial spoke defect
microtubular transposition
Syndromes
- kartageners
- young
Non syndrom
- pectus
- hydrocephalus
- congenital heart disease
- biliary atresia
Primary ciliary dyskinesia imaging
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
Williams campbell syndrome
rare form of congenital cystic bronchiectasis in which distal bronchial cartilage is defective. deficiency of cartilage in 4th to 6th order subsegmental bronchi
DDH risk factors
female
firstborn
fhx
breech
oligohydramnios
DDH imaging
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
Fibrous dysplasia patterns
mono
poly (syndromes)
craniofacial
cherubism
Fibrous dysplasia pathology
Developmental dysplasia and focal arrest in normal osteoblastic activity secondary to non hereditary mutation which results in bone with lack of normal differentiation
Fibrous dysplasia imaging
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
Mccune albright + maazabraud
endocrinopath
Poly FD
cafe au lait
FD
intramuscular myxomas
Osgood Schlatter is
aphophysitis of the tibial tubercle. Microtrauma at the patella tendon insertion. Active young people
Osgood Schlatter imaging
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
Perthes is
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
Perthes imaging
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)
Waldenstrom classification perthes
temporal phases xray abnormalities
1; early (early change)
2; fragmentation (later changes)
3; reparative; reossification
4; healed
Catterall classification perthes
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
SUFE is
a type 1 salter harris growth plate injury. Usually older kids, boys, obese
SUFE path
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
SUFE imaging
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
Thalassemia path
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.
Thalassemia imaging
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
Hair on end differentials
HI NEXT
H; hereditary spherocytosis
I; iron deficiency
N: neuroblastoma
E; enzyme, G6PD haemolytic
S; sickle cell
T; thalaseemia major
VACTERL association
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)
osteochondroses include
Legg Calve Perthes
Freiberg infraction
Kienbock disease
Kohler disease
Osgood schlatter
Osteochondritis dissecans knee/elbow
Panner disease
Sever disease
Sinding Larsen Johansson
Freibergs is
Osteochrondrosis of the metatarsal heads. Usually 2nd. Can be bilateral. Adolescents and f.m. Multifactorial; injury and vascular compromise
Freibergs imaging
Flattening/cystic lesions
Widening of the MTP
Osteochondral fragments
Sclerosis and flattening
Cortical thickening
Kienbocks disease is
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.
Kienbocks imaging
Sclerosis and flattening
Fragmentation and degeneration
MR changes on the radial side (rather than ulnar impaction)
Stahl classification
Kohler disease is
child onset osteonecrosis of the navicular bone. Mueller weiss in adults. Usually paediatrics and males.
Kohler disease imaging
wafer thin and fragmented
patchy sclerosis
soft tissue swelling
Panner disease is
osteonecrosis of the capitellum. Typically younger kids and throwers. Usually younger than OCD of the elbow.
Panner disease imaging
entire capitelllum affected. No intraarticular loose bodies, different to OCD elbow.
Sever disease is
calcaneal aphophysitis. Usually young children and adolscents, runners and jumpers
Sinding Larsen Johansson disease is
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.
Sinding Larsen Johansson imaging
Thickening proximal patellar tendon, hoffa fat pad stranding. Dystrophic calcification.
Rickets is
deficient mineralisation of the growth plate in paeds.
Rickets RFs and path
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
Rickets imaging
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
Leg bowing differential
Developmental
Congenital
Rickets
Scurvy
Blounts
NF1
Skeletal dysplasia
OM
Syphillis
yaws
Widened growth plate differential
Schmid metaphyseal chondroplasia
Scurvy
Endocrine (GH, hyperpth, hypothyroid)
Rickets
Flaring metaphysis differential
Anemia
FD
Storage disease
Lead poisoning
Bone dysplasia
Rickets
Congenital talipes is
most common anomlay affecting feet. Include talipes equinovarus, talipes calcaneovalgus and metatarsus varus . Boatloads of associations.
Congenital talipes imaging
Hindfoot equinus - lateral talocalcaneal angle <35
Hindfoot varus - talocalcaneal angle <20
Metatarsus adductus - talus to first MT angle ?15
Talonavicular subluxation
Tarsal colation is
complete or partial union between two or more bones in the mid/hindfoot. Incomplete or faulty segmentation. Can be bony, cartilaginous or fibrous.
Tarsal coalition imaging
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
Congenital pseudoarthrosis of the tibia is and imaging
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
Scurvy is
lack of vitamin c. increased bleeding, impaired collagen synthesis and osteoporosis.
Scurvy imaging
Osteopenia
Cortical thinning
Periosteal reaction
Scorbutic rosary
Haemarthrosis
Wimberger rim sign
Frankel line
Trummerfeld zone
Pelking spur/fracture
Rocker bottom foot is
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.
Rocker bottom foot imaging
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
Achondroplasia is
a congenital disorder resulting in rhizomelic dwarfism. Most common skeletal dysplasia.
Achondroplasia path
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.
Achondroplasia imaging
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
Haemophilia is
an inherited bleeding disorder, x linked. a and b types. Severity graded by baseline factor activity. Can get arthropathy and pseudotumours
Haemophilic arthropathy is
joint disease occurring in haemophilia due to haemarthroses.
Haemophilic arthropathy path
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.
Haemophilic arthorpathy imaging
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
Osteogenesis imperfecta is
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.
Osteogenesis imperfecta path
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.
Osteogenesis imperfecta classification
- mild
- perinatal lethal
- progressive deforming
4-8 variable and uncommon
Osteogenesis imperfecta imaging
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
Cleidocranial dysostosis path
Polyostotic skeletal dysplasiacaused by mutation in CBFA1 gene in AD or sporadic pattern. Incomplete intramembranous ossification of midline skeletal structures, clavicles and pelvis
Cleidocranial dysostosis imaging
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
Mucopolysaccharidoses is
a group of heterogenous disorders, one of a number of lysosomal storage disorders. Excessive accumulation of mucopolysaccharides.
Mucopolysaccharidoses subtypes
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
Hurler syndrome imaging
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
Hunter syndrome is
x linked recessive MPS. Similar clinical features to Hurler without corneal clouding.
Hunter syndrome imaging
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
Morquio syndrome path
excess keratan sulphate due to deficit in its degradation pathway, buildup in annulus and corneas.
Morquio syndrome imaging
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
Osteopetrosis is
uncommon hereditary d/o resulting from defetive osteoclasts. Bones become sclerotic but fragile due to abnormal structure.
Osteopetrosis pathology
Fractures. Crowding of the marrow, resulting in anaemia EMH, splenomegaly. Congenital abnormalitie with localised chromosomal defects. Autosomal dominant and recessive types.
Autosomal recessive osteopetrosis path
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
AR osteopetrosis imaging
XR
Bone in bone
Mandible condylar calcification in ossification centre
Defective dentition
Underpneumatised PN sinuses
Hypertelorism
Hair on end
Autosomal dominant osteopetrosis path
Clinical
- less severe, later onset, benign/adult
- fractures
- cranial nerve compression
- hepatosplenomegaly
Path
- deficiency in osteoclast function
- dense bones wack architecture
AD osteopetrosis imaging
Bone in a bone
Erlenmeyer flask deformity
Sandwich vertebrae
Alternating radiolucent bands
Sickle cell disease is
hereditary condition resulting in formation of abnormal haemoglobin manifests as multisystem ischaemia and infarction.
Sickle cell path
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.
Sickle cell imaging
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
