Neurocutaneous Syndromes Flashcards
1
Q
What are the types of neurocutaneous syndromes?
A
Neurofibromatosis
Tuberous sclerosis
Sturge-Weber syndrome
Von hippel lindau disease
2
Q
What is neurofibromatosis?
A
An inherited
Autosomal dominant
Two types
NF1 has cafe au lait spots and neurofibromas, more common out of the two. Scoliosis, Lisch nodules (melanocytic hamartomas in iris), intracranial and intraspinal neoplasms
NF2 has schwannomas (bilateral acoustic neuroma) and cataracts
3
Q
What is tuberous sclerosis?
A
Autosomal dominant
NC syndrome
With cutaneous Neurological Renal Skeletal Cardiac Pulmonary abnormalities
Adenoma sebaceum Shagreen patch Mental retardation Seizures Astrocytoma Obstruction hydrocephalus Renal carcinoma Retinal hamartomas Rhabdomyomas
4
Q
What is sturge weber syndrome?
A
NC syndrome
Sporadic
Characterized by facial angioma “port wine stain”
Leptomeningeal venous angioma
Congenital glaucoma
Atrophic hemisphere with abnormal calcified vessels
Epilepsy
