Neurocutaneous Syndromes

Question 0

Kasabach Merritt

Answer 0

large/suddenly enlarging atypical hemangioma (actually tufted angiomas or kaposiform hemangioendotheliomas)
TCP
consumptive coagulopathy

Question 1

Sturge Weber

Answer 1

port wine stain of V1 (ophthalmic division of trigeminal nerve)
ipsilateral leptomeningeal angioma, meningeal and cerebral cortex abnormalities
intracranial (vessel) calcification
60-90% have seizures
50% have MR
often glaucoma
*not inherited, cause unknown

Question 2

Tuberous Sclerosis

Answer 2

Ash Leaf Spots (hypopigmented macules)
- first skin finding
Adenoma Sebaceum (angiofibromas)
- small firm papules
- flesh colored or reddish pink or brown
- usually on nose/cheeks
- enlarge over time
*often mistaken for acne
Shagreen Patches
- collagenomas
- yellowish raised plaques
- "orange peel" appearance 
Periungual fibromas
- after puberty
- 50% of pts w/TS

Question 3

NF 1 Diagnosis

Answer 3

2+ of:

• 6+ cafe au lait >5mm pre-puberty, >15mm post-puberty
• 2+ neurofibromas or 1+ plexiform neurofibroma
• axillary/inguinal freckling
• optic glioma
• 2+ Lisch nodules (iris hamartomas- benign)
• distinctive bone lesions (sphenoid dysplasia or tibial pseudoarthrosis)
• 1st degree FH

Question 4

NF1 Cause

Answer 4

Neurofibromin gene (chromosome 17)
autosomal dominant

Question 5

NF1 Course

Answer 5

Common UBO’s (insignificant bright spots on MRI)
Can also develop HTN, vasculopathy
Skin findings increase with age
- Optic gliomas usually develop by 6yo, benign but can have mass effect
- Plexiform neurofibromas have 10-15% chance progression to neurofibrosarcoma
- Increased risk of pheochromocytoma as adult
- Increased risk leukemia

Question 6

NF2

Answer 6

Merlin gene on chromosome 22, AD
Primarily tumors:
Schwannomas 
- b/l acoustic (CN VIII)
- other CN's
- spinal roots
- peripheral nerves
Meningiomas
Gliomas
*s/t lens opacities, not usually cataracts