Neurocutaneous syndromes Flashcards
Which neurofibromatosis is more common? Which is associated with chromosome 17? 22?
NF 1 is 10x more common
NF1 - 17
NF2 - 22
What are the hallmarks of NF1?
What are the other associated findings
prominent cutaneous lesions, Plexiform neurofibromas, Bilateral optic nerve gliomas
Hamartomas, greater sphenoid wing dysplasia with pulsatile exopthalmos, globe enlargement
Where are the common sites for dysplastic myelin formation in NF1? How does it look?
High T2/FLAIR signal, no mass effect, no enhancement or restricted diffusion
Basal ganglia - globus palladi (can be T1 hyperintense in these parts) Optic radiations Internal capsules Brainstem Cerebellar/cerebral peduncles
What is the course of dysplastic myelin in NF1?
Grow until 10yo, then regress
What are the spinal abnormalities in NF1?
Neurofibromas and rare astrocytomas
Expansion of neuroforamina, widened spinal canal, scalloped posterior aspect of vertebral body
Acute angle of kyphoscoliosis
Lateral thoracic meningoceles!!!
What does lateral thoracic meningoceles and acute angle kyphoscoliosis suggest?
NF1
What are the spinal abnormalities in NF2?
MISME
multiple inheritied Meningiomas, Schwannomas, Ependymomas
When do NF2 patients present? What do all patients develop? What is the hallmark sign?
What in a child suggests NF2?
20-30s, all patients develop CNS tumors
Bilateral vestibular schwannomas
Meningioma in a child should raise suspiciion for NF2
Where do NF2 meningiomas arise vs sporadically?
Lateral ventricle
What is the chromosome in tuberous sclerosis?
What is the classic triad?
What do 95% of patients demonstrate on brain imaging?
9 and 16
“zits, fits, and nitwits” - facial angiofibromas, seizures, mental retardation
Subcortical or periventricular hamartomas
What are the hamartomas in tuberous sclerosis made of?
Disordered glial cells, HETEROTOPIC neurons (grey matter), giant cells, CALCIFICATION
What is the imaging of the tuberous sclerosis hamartomas?
Wedge shaped FLAIR signal
Calcification on CT
Linear lowT1/highT2 signal extending to ventricle from subcortical hamartoma
What are the 3 extraCNS lesions in tuberous sclerosis?
Cardiac rhabdomyoma
Renal AML
LAM
Cystoid degeneration - WM cysts - are seen with what?
Tuberous sclerosis
What is SEGA seen in?
Tuberous sclerosis
Radial line on MR suggest what?
Tuberous sclerosis
heterotopic glia along path of neuronal migration from ventricle to cortex
Where do SEGA most commonly occur? What are the secondary signs?
What is the hallmark?
Foramen of munro
hydrocephalus of the lateral ventricles
PROGRESSIVE growth
What chromosome is VHL on? When do patients become symptomatic?
What is the hallmark lesion? Where are they usually located? What is the imaging?
What extraCNS manifestions are seen?
3
20-50yo
Hemangioblatomas - cerebellum (65%), brainstem (20%), spinal cord (15%)
20-40% solid, but majority are cystic with mural nodule
Renal angioma, retinal detachment, endolymphatic sac tumors
What do endolymphatic sac tumors suggest?
VHL
What is the pathology in sturge weber?
Where are the port wine stains?
What is the CNS manifestions, and on what side?
disorder of venous vasculature
Distribution of trigeminal nerve
IPSILATERAL to nevus, pial angioma in the occipitoparietal region
What is the classic brain imaging in sturge weber?
Pial calcification along the gyri with ipsilateral atrophy
pial angiomas recruit deep medullary veins and choroid plexus for venous drainage - stasis leads to dystrophic calcification
what is the difference between subependumal nodules and SEGA?
Size
1.3cm is the cutoff
What is the main DDx for sturge weber - calcification and leptomeningeal enhancement?
Meninoangiomatosis - seen with NF2, no atrophy
What is cowden syndrome? What are the extraCNS manifestations?
What is the CNS hallmark?
multiple hamartoma syndrome
Breast disease (cancer in 25%)
Thyroid disease (cancer in 10%)
Endometrial and renal cancers
Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma
What is lhermitte duclos
Dysplastic cerebellar gangliocytoma
striated tiger stripe lesion
What is PHACES syndrome?
Posterior fossa malformation (dandy walker, hemispheric hypoplasia ipsilateral to hemangioma)
segmental Hemangioma Arterial anomalies (circle of willis, aorta) Cardiac defects Eye abnormalities Sternal defects
What the the posterior fossa malformations in PHACES? What is unique about the location?
What are the arterial anomalies in PHACES?
dandy walker, hemispheric hypoplasia ipsilateral to hemangioma
Hypoplasia, agenesis, dolichoectasia, embryonic vessel persitance, progressive stenosis, occlusions
The presence of segmental facial hemangiomas suggests what?
PHACES
