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Human Genetics Disorders and more

Neurofibromatosis

Neurofibromatosis is a genetic disorder in the nervous system that causes tumors to form on the nerves in the body. Approximately 50% of individuals with neurofibromatosis have a family history of NF. The other 50% of cases occur from spontaneous genetic mutation.Neurofibromatosis has two forms, NF1 and NF2.

Neurofibromatosis 1 (NF1) is also known as von Recklinghausen NF and Peripheral NF. Symptoms are characterized by: multiple cafe-au-lait spots and neurofibromas on the skin, deformation of bones, and scoliosis. Tumors may develop in the brain or on the spinal cord. Neurofibromatosis 2 (NF2) is also known as Bilateral Acoustic NF (BAN), and is characterized by numerous tumors on the spinal and cranial nerves.

1 comment

1 Albert J. Roche, M.D. { 08.25.08 at 10:36 am }

I have a mother and daughter with neurofibromatosis, type 1. At age 11 the daughter had a grand mal seizure. After EEG and ECG she was diagnosed with long QT syndrome. Is there a relationship between the two?

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