Neurocutaneous Syndromes

Question 1

Features of NF1 (6)

Answer 1

Cafe-au-lait (=/>6 are significant)

axillary freckling

lisch nodules

dermal/neurofibromas

short stature

macrocephaly

Question 2

Complications of NF1 (7)

Answer 2

mild LD

local effects from fibromas

GI bleeds/obstruction

benign renal tumours

phaeochromocytoma

gliomas

bone lesions

Question 3

DDx for NF1 (3)

Answer 3

McCune-Albright

Multiple lentigines

urticaria pigmentosa

Question 4

Mx of NF1 (2)

Answer 4

MDT, yrly assessment

can’t remove all fibromas

Question 5

Features of NF2 (5)

Answer 5

Rarer than NF1

fewer cafe-au-lait spots

bilateral acoustic neuromas: sensorineural hearing loss, usually benign but can raise ICP

other tumours: meningiomas, gliomas

juvenile cataracts

Question 6

Dx of NF2

Answer 6

acoustic neuroma+one other feature

Question 7

Features of tuberous sclerosis (9)

Answer 7

depigmeneted ash leaf spots seen on Wood’s light

roughened patch over lumbar spine: shagreen patches

adenoma sebaceum over nose and cheeks

fibromata beneath nails

epilepsy: West syndrome

LD

PCKD

benign tumours: retinal hamartomas, rhabdomyomas of heart

sub-epindymal nodes around the ventricles-seen on CT.

Question 8

Dx of tuberous sclerosis (4)

Answer 8

made on brain MRI: cortical tubers and sub-epindymal nodes

examination under Wood’s light

Renal USS

fundoscopy

Question 9

Features of Sturge-Weber Syndrome (7)

Answer 9

sporadic, not AD

unilateral port wine stain in distribution of trigeminal nerve

angiomas involving leptomeningeal vessels>seizures

haemangiomas of the spinal cord

abnormal blood vessels all over the brain>seizures and hemiparesis contralateral to port wine stain

LD

ocular involvement>glaucoma