NEURO - PATH - Neurocutaneous Disorders

Question 1

Sturge-Weber syndrome (encephalotrigeminal

angiomatosis)

Answer 1

STURGE-Weber
Sporadic, 
port-wine Stain
Tram track calcifications (opposing gyro)
Unilateral
Retardation (intellectual disability)
Glaucoma
GNAQ gene
Epilepsy.

Question 2

Tuberous sclerosis

Answer 2

HAMARTOMAS
Hamartomas in CNS and skin
Angiofibromas
Mitral regurgitation
Ash-leaf spots
cardiac Rhabdomyoma
(Tuberous sclerosis)
autosomal dOminant
Mental retardation
(intellectual disability)
renal Angiomyolipoma
Seizures
Shagreen patches

Question 3

Neurofibromatosis type I (von Recklinghausen disease)

Answer 3

Café-Au-Alit spots
Lisch nodules (pigmented iris hamartomas)
cutaneous neurofibromas
optic gliomas
pheochromocytoma

Mutated NF1 tumor suppressor gene on chromosome 17.

Neurofibromas are derived from neural crest cells.

Question 4

von Hippel-Lindau disease

Answer 4

Hemangioblastomas in retina, brain stem, cerebellum, spine

angiomatosis (eg, cavernous hemangiomas in skin, mucosa, organs)

bilateral renal cell carcinomas

pheochromocytomas