Term
| What is the inheritance pattern for sturge weber disease? |
|
Definition
|
|
Term
| What is the inheritance pattern for all of the neurocutaneous diseases except sturge weber disease? |
|
Definition
|
|
Term
| What neurocutaneous diseases presents with multiple peripheral nerve involvement? |
|
Definition
| Von recklinghausen's (NF1) |
|
|
Term
| What two clinical findings when found even alone would be diagnostic of NF1? |
|
Definition
bilateral optic gliomas
or
Plexiform neurofibromas |
|
|
Term
| A braided looking nerve root would be this type of clinical finding in NF1? |
|
Definition
|
|
Term
| What might some NF1 patients have opposed to cafe au lait spots depending on penetrance of the disease? |
|
Definition
|
|
Term
| What are lisch nodules and what neurocutaneous disease are they present in? |
|
Definition
| they are pigmented lesions of the iris and are present in NF1 |
|
|
Term
| What is the most typical lesion of neurofibromatosis type 2? |
|
Definition
| bilateral acoustic schwanommas |
|
|
Term
| What chromosome is the defect in NF1 found on and what protein is defected? |
|
Definition
| chromosome 17 and neurofibromin |
|
|
Term
| What chromosome is the defect found on in NF2 and what protein? |
|
Definition
|
|
Term
| What disease is it common to have multiple meningiomas? |
|
Definition
|
|
Term
| What two chromosomes are associated with the defects in Tuberous Sclerosis? |
|
Definition
| Chromosome 9 (hamartin) and 16 (tuberin) |
|
|
Term
| What is the early skin lesion of tuberous sclerosis? |
|
Definition
|
|
Term
| What is the classic triad of tuberous sclerosis? |
|
Definition
| seizure, mental retardation, and skin lesions |
|
|
Term
| What disease presents with shagreen patch? |
|
Definition
|
|
Term
| What disease is associated with Rhabdomomas? |
|
Definition
|
|
Term
| What are adenoma sebaceum lesions? |
|
Definition
| they are actually angiofibromas |
|
|
Term
| What disease is associated with subungal fibromas and subependymal nodules? |
|
Definition
|
|
Term
| What is the chromosome associated with Von Hippel Lindau disease? |
|
Definition
|
|
Term
| What is the main clinical presentation of Von Hippel Lindau Disease? |
|
Definition
| Hamangioblastoma of retina, cerebellum, or spinal cord |
|
|
Term
| What type of carcinoma is strongly associated with Von Hippel Lindau disease? |
|
Definition
|
|
Term
| What disease is associated with hemangiomas in the trigeminal distribution of the face? |
|
Definition
|
|
Term
| What side of the head in comparison to the port wine stain in Sturge Weber is the cortical lesion? |
|
Definition
|
|
Term
| What disease has characteristis tram track calcification in the cortex? |
|
Definition
|
|
