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13 Cards in this Set

  • Front
  • Back
What are the clinical manifestations of Sturge-Weber Syndrome (SWS) x5
1. Port wine stain on V1 distribution (ipsilateral)

2. Contralateral hemiparesis

3. Contralateral seizures

4. Ipsilateral Leptomeningeal angioma

5. Visual impairment
A CT scan of a Sturge-Weber Syndrome patient would show what?
"Tram tracks"

Gyriform calcification of parietal and occipital areas behind the Leptomeningeal angioma.
Management of Sturge Weber Syndrome x4
1. Anticonvulsants

2. Surgery

3. Pulsed dye laser therapy

4. Periodic monitoring of intraocular pressure
What are the clinical features (only 2 needed) of NF Type 1? x7
Cafe au lait
Ancillary, inguinal freckling (Crowe's sign)
Eye Lisch nodules

Skeletal lesions
Pedigree 1st degree NF1
Optic Tumor
T/F - Lisch nodules interfere with vision.
Which chromosomes have the NF1 and NF2 gene?
Chr 17

Chr 22
NF1 gene codes for what?

NF2 gene codes for what?

NF2 inheritance pattern?
NF2 symptoms x6
Facial nerve function loss

Balance loss
Opthalmic (vision problems)
A member of the Shreveport Fire Department bowed at you b/c you are an asian doctor. He complains of Schwannomas, Facial nerve loss of function, Deafness, Balance loss, Opthalmic problems, and Weakness. What is the diagnosis?
Symptoms associated with Tuberous sclerosis. x7
Facial angiofibromas
Lesions at birth
Ash leaf spots
Periungual fibromas
Shagreen patch
Mulberry lesions
Cardiac tumors
What genes are involved in TS complex and what do they code for?
TSC1 - Hamartin

TSC2 - Tuberin
Tuberous Sclerosis management? x4
1. Genetic counseling
2. Treat epilepsy
3. Surgical intervention for hydrocephalus
4. Monitor systemic involvement.