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13 Cards in this Set
- Front
- Back
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What are the clinical manifestations of Sturge-Weber Syndrome (SWS) x5
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1. Port wine stain on V1 distribution (ipsilateral)
2. Contralateral hemiparesis 3. Contralateral seizures 4. Ipsilateral Leptomeningeal angioma 5. Visual impairment |
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A CT scan of a Sturge-Weber Syndrome patient would show what?
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"Tram tracks"
Gyriform calcification of parietal and occipital areas behind the Leptomeningeal angioma. |
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Management of Sturge Weber Syndrome x4
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1. Anticonvulsants
2. Surgery 3. Pulsed dye laser therapy 4. Periodic monitoring of intraocular pressure |
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What are the clinical features (only 2 needed) of NF Type 1? x7
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Cafe au lait
Ancillary, inguinal freckling (Crowe's sign) Fibromas Eye Lisch nodules Skeletal lesions Pedigree 1st degree NF1 Optic Tumor |
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T/F - Lisch nodules interfere with vision.
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False
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Which chromosomes have the NF1 and NF2 gene?
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Chr 17
Chr 22 |
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NF1 gene codes for what?
NF2 gene codes for what? |
Neurofibrin
Merlin |
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NF2 inheritance pattern?
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AD
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NF2 symptoms x6
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Schwannomas
Facial nerve function loss Deafness Balance loss Opthalmic (vision problems) Weakness |
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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?
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NF2
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Symptoms associated with Tuberous sclerosis. x7
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Facial angiofibromas
Lesions at birth Ash leaf spots Periungual fibromas Shagreen patch Mulberry lesions Cardiac tumors |
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What genes are involved in TS complex and what do they code for?
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TSC1 - Hamartin
TSC2 - Tuberin |
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Tuberous Sclerosis management? x4
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1. Genetic counseling
2. Treat epilepsy 3. Surgical intervention for hydrocephalus 4. Monitor systemic involvement. |
