Neurofibromatosis type 1: a case report and review of the literature
Holt, W.S.; Harsha, D.M.
Journal of Family Practice 34(5): 617-624
1992
ISSN/ISBN: 0094-3509 PMID: 1578214 Document Number: 403045
Neurofibromatosis is the most common single-gene disorder of the nervous system. The chromosomal defects for at least two forms of neurofibromatosis have been delineated and mapped to chromosomes 17 (type 1) and 22 (type 2). The clinical course for either type of neurofibromatosis is unpredictable, and serious neurologic and systemic manifestations frequently arise in patients with this disorder. A 66-year-old woman presented with rapidly progressive myelopathy requiring operative decompression of the spinal canal to preserve function of the lower extremities. It is important to recognize the characteristics of neurofibromatosis and understand the natural history of this condition. Conservative treatment is the rule, treating new manifestations as they arise.