Neurocutaneous syndromes Flashcards

1
Q

Which neurofibromatosis is more common? Which is associated with chromosome 17? 22?

A

NF 1 is 10x more common

NF1 - 17
NF2 - 22

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2
Q

What are the hallmarks of NF1?

What are the other associated findings

A

prominent cutaneous lesions, Plexiform neurofibromas, Bilateral optic nerve gliomas

Hamartomas, greater sphenoid wing dysplasia with pulsatile exopthalmos, globe enlargement

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3
Q

Where are the common sites for dysplastic myelin formation in NF1? How does it look?

A

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
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4
Q

What is the course of dysplastic myelin in NF1?

A

Grow until 10yo, then regress

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5
Q

What are the spinal abnormalities in NF1?

A

Neurofibromas and rare astrocytomas

Expansion of neuroforamina, widened spinal canal, scalloped posterior aspect of vertebral body

Acute angle of kyphoscoliosis

Lateral thoracic meningoceles!!!

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6
Q

What does lateral thoracic meningoceles and acute angle kyphoscoliosis suggest?

A

NF1

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7
Q

What are the spinal abnormalities in NF2?

A

MISME

multiple inheritied Meningiomas, Schwannomas, Ependymomas

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8
Q

When do NF2 patients present? What do all patients develop? What is the hallmark sign?

What in a child suggests NF2?

A

20-30s, all patients develop CNS tumors

Bilateral vestibular schwannomas

Meningioma in a child should raise suspiciion for NF2

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9
Q

Where do NF2 meningiomas arise vs sporadically?

A

Lateral ventricle

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10
Q

What is the chromosome in tuberous sclerosis?

What is the classic triad?

What do 95% of patients demonstrate on brain imaging?

A

9 and 16

“zits, fits, and nitwits” - facial angiofibromas, seizures, mental retardation

Subcortical or periventricular hamartomas

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11
Q

What are the hamartomas in tuberous sclerosis made of?

A

Disordered glial cells, HETEROTOPIC neurons (grey matter), giant cells, CALCIFICATION

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12
Q

What is the imaging of the tuberous sclerosis hamartomas?

A

Wedge shaped FLAIR signal

Calcification on CT

Linear lowT1/highT2 signal extending to ventricle from subcortical hamartoma

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13
Q

What are the 3 extraCNS lesions in tuberous sclerosis?

A

Cardiac rhabdomyoma

Renal AML

LAM

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14
Q

Cystoid degeneration - WM cysts - are seen with what?

A

Tuberous sclerosis

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15
Q

What is SEGA seen in?

A

Tuberous sclerosis

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16
Q

Radial line on MR suggest what?

A

Tuberous sclerosis

heterotopic glia along path of neuronal migration from ventricle to cortex

17
Q

Where do SEGA most commonly occur? What are the secondary signs?

What is the hallmark?

A

Foramen of munro

hydrocephalus of the lateral ventricles

PROGRESSIVE growth

18
Q

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?

A

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

19
Q

What do endolymphatic sac tumors suggest?

A

VHL

20
Q

What is the pathology in sturge weber?

Where are the port wine stains?

What is the CNS manifestions, and on what side?

A

disorder of venous vasculature

Distribution of trigeminal nerve

IPSILATERAL to nevus, pial angioma in the occipitoparietal region

21
Q

What is the classic brain imaging in sturge weber?

A

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

22
Q

what is the difference between subependumal nodules and SEGA?

A

Size

1.3cm is the cutoff

23
Q

What is the main DDx for sturge weber - calcification and leptomeningeal enhancement?

A

Meninoangiomatosis - seen with NF2, no atrophy

24
Q

What is cowden syndrome? What are the extraCNS manifestations?

What is the CNS hallmark?

A

multiple hamartoma syndrome

Breast disease (cancer in 25%)

Thyroid disease (cancer in 10%)

Endometrial and renal cancers

Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma

25
Q

What is lhermitte duclos

A

Dysplastic cerebellar gangliocytoma

striated tiger stripe lesion

26
Q

What is PHACES syndrome?

A

Posterior fossa malformation (dandy walker, hemispheric hypoplasia ipsilateral to hemangioma)

segmental Hemangioma
Arterial anomalies (circle of willis, aorta)
Cardiac defects
Eye abnormalities
Sternal defects
27
Q

What the the posterior fossa malformations in PHACES? What is unique about the location?

What are the arterial anomalies in PHACES?

A

dandy walker, hemispheric hypoplasia ipsilateral to hemangioma

Hypoplasia, agenesis, dolichoectasia, embryonic vessel persitance, progressive stenosis, occlusions

28
Q

The presence of segmental facial hemangiomas suggests what?

A

PHACES