developmental syndromes

Question 1

Neurofibromatosis (general)

Answer 1

autosomal dominant
high degree of penetrance
often due to spontaneous mutation

Question 2

Neurofibromatosis type I

Answer 2

aka von Recklinghausen’s disease
mutation on chromosome 17.
more than 6 cafe au lait spots
multiple neurofibromas both cutaneous and deep
Lisch nodules (pigmented bumpy things on the iris)
CNS neoplasms, esp. optic glioma (pilocytic astrocytoma of optic chiasm)

Question 3

Neurofibromatosis type II

Answer 3

locus on chromosome 22
often new germline mutations
less common than NF-1
bilateral acoustic schwannomas
other tumors possible
meningiomas also common

Question 4

Tuberous sclerosis complex

Answer 4

group of autosomal dominant disorders
benign neoplastic lesions
many organs may be affected, but brain is most common
often see cortical tubers, subependymal nodules (esp. in caudate and thalamus), retinal hamartomas
histologically, see giant bizzre neuronal like cells

Question 5

presenting symptoms of tuberous sclerosis complex

Answer 5

seizures, behavioral problems, and intellectual disability

Question 6

Coexisting tumors with tuberous sclerosis

Answer 6

mesenchymal, esp. cardiac rhabdomyoma

Question 7

Von Hippel-Lindau disease

Answer 7

autosomal dominant. usually germline mutations
chromosome 3
hemangiobalstomas of nervous system and retina
also renal cell carcinoma
pheochromocytoma
other cystic/ademantous neoplasms

Question 8

Sturge-Weber

Answer 8

rare, non-familial problem with vascular venous (port-wine) in the distribution of one or more of the sensory divisions of the trigeminal nerve. may extend into the underlying brain. develops with variable degrees of calcification of cortical vessels/parenchyma.

Question 9

neuro complications of sturge-Weber

Answer 9

seizures, hemiplegia, intellectual disability