What're signs and symptoms of neurofibromatosis?
There are very high rates of speech impairment, learning disabilities, and attention deficit disorder in children with NF-1. Other complications include the development of a seizure disorder, or the abnormal accumulation of fluid within the brain (hydrocephalus). A number of cancers are more common in patients with NF-1. These include a variety of types of malignant
brain tumors, as well as leukemia, and cancerous tumors of certain muscles (rhabdomyosarcoma), the adrenal glands (pheochromocytoma), or the kidneys (Wilms' tumor).
Patients with NF-2 do not necessarily have the same characteristic skin symptoms (café-au-lait spots, freckling, and neurofibromas of the skin) that appear in NF-1. The characteristic symptoms of NF-2 are due to tumors along the acoustic nerve. Interfering with the function of this nerve results in the loss of hearing; and the tumor may spread to neighboring nervous system structures, causing weakness of the muscles of the face, headache, dizziness, poor balance, and uncoordinated walking. Cloudy areas on the lens of the eye (called cataracts) frequently develop at an unusually early age. As in NF-1, the chance of brain tumors developing is unusually high.
Doctors have come up with ways to rank their importance to be able to make more reliable diagnoses. Patients may have "café-au-lait" spots which are darkened marks on the skin measuring about 5 mm in children and 15 mm on average in adults. Freckling in the armpit or groin area is also common. Other tumors may developl: optic glioma (a tumor of the main nerve to the eye), Lisch nodules (tumors of the iris which is the colored part of the eye), and bone lesions such as thinning or fracture of the tibia. Other more rare signs include kyhposcoliosis (see Patient Guide to Scoliosis and Patient Guide to Kyphosis), differences in length between the two legs, elephantiasis, mental retardation, and high blood pressure.