Neurocutaneous syndromes

Question 1

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

Answer 1

NF 1 is 10x more common

NF1 - 17
NF2 - 22

Question 2

What are the hallmarks of NF1?

What are the other associated findings

Answer 2

prominent cutaneous lesions, Plexiform neurofibromas, Bilateral optic nerve gliomas

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

Question 3

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

Answer 3

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

Question 4

What is the course of dysplastic myelin in NF1?

Answer 4

Grow until 10yo, then regress

Question 5

What are the spinal abnormalities in NF1?

Answer 5

Neurofibromas and rare astrocytomas

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

Acute angle of kyphoscoliosis

Lateral thoracic meningoceles!!!

Question 6

What does lateral thoracic meningoceles and acute angle kyphoscoliosis suggest?

Answer 6

NF1

Question 7

What are the spinal abnormalities in NF2?

Answer 7

MISME

multiple inheritied Meningiomas, Schwannomas, Ependymomas

Question 8

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

What in a child suggests NF2?

Answer 8

20-30s, all patients develop CNS tumors

Bilateral vestibular schwannomas

Meningioma in a child should raise suspiciion for NF2

Question 9

Where do NF2 meningiomas arise vs sporadically?

Answer 9

Lateral ventricle

Question 10

What is the chromosome in tuberous sclerosis?

What is the classic triad?

What do 95% of patients demonstrate on brain imaging?

Answer 10

9 and 16

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

Subcortical or periventricular hamartomas

Question 11

What are the hamartomas in tuberous sclerosis made of?

Answer 11

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

Question 12

What is the imaging of the tuberous sclerosis hamartomas?

Answer 12

Wedge shaped FLAIR signal

Calcification on CT

Linear lowT1/highT2 signal extending to ventricle from subcortical hamartoma

Question 13

What are the 3 extraCNS lesions in tuberous sclerosis?

Answer 13

Cardiac rhabdomyoma

Renal AML

LAM

Question 14

Cystoid degeneration - WM cysts - are seen with what?

Answer 14

Tuberous sclerosis

Question 15

What is SEGA seen in?

Answer 15

Tuberous sclerosis

Question 16

Radial line on MR suggest what?

Answer 16

Tuberous sclerosis

heterotopic glia along path of neuronal migration from ventricle to cortex

Question 17

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

What is the hallmark?

Answer 17

Foramen of munro

hydrocephalus of the lateral ventricles

PROGRESSIVE growth

Question 18

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?

Answer 18

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

Question 19

What do endolymphatic sac tumors suggest?

Answer 19

VHL

Question 20

What is the pathology in sturge weber?

Where are the port wine stains?

What is the CNS manifestions, and on what side?

Answer 20

disorder of venous vasculature

Distribution of trigeminal nerve

IPSILATERAL to nevus, pial angioma in the occipitoparietal region

Question 21

What is the classic brain imaging in sturge weber?

Answer 21

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

Question 22

what is the difference between subependumal nodules and SEGA?

Answer 22

Size

1.3cm is the cutoff

Question 23

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

Answer 23

Meninoangiomatosis - seen with NF2, no atrophy

Question 24

What is cowden syndrome? What are the extraCNS manifestations?

What is the CNS hallmark?

Answer 24

multiple hamartoma syndrome

Breast disease (cancer in 25%)

Thyroid disease (cancer in 10%)

Endometrial and renal cancers

Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma

Question 25

What is lhermitte duclos

Answer 25

Dysplastic cerebellar gangliocytoma

striated tiger stripe lesion

Question 26

What is PHACES syndrome?

Answer 26

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

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

Question 27

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

What are the arterial anomalies in PHACES?

Answer 27

dandy walker, hemispheric hypoplasia ipsilateral to hemangioma

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

Question 28

The presence of segmental facial hemangiomas suggests what?

Answer 28

PHACES