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Neurofibromatosis Information

Neurofibromatosis is an autosomal dominant genetic disorder. Neurofibromatosis type I (NF-1), also known as von Recklinghausen syndrome, comprises, along with neurofibromatosis type II (a.k.a. MISME syndrome), tuberous sclerosis, Sturge-Weber, and Von Hippel-Lindau disease, the phakomatoses or neurocutaneous syndromes, all of which have both neurologic and dermatologic lesions. This grouping is an artifact of an earlier time in medicine, before the distinct genetic basis of each of these diseases was understood.

Neurofibromatosis Type II (or "MISME Syndrome", for "Multiple Inherited Schwannomas, Meningiomas, and Ependymomas") is an inherited disease. The main manifestation of the disease is the development of symmetric, non-malignant brain tumours in the region of the cranial nerve VIII, which is the auditory nerve that transmits sensory information from the inner ear to the brain. Most people with this condition also experience problems in their eyes. NF II is caused by mutations of a gene which probably influences the form and movement of cells. The principal treatments consist of neurosurgical removal of the tumors and surgical treatment of the eye lesions. There is no therapy for the underlying disorder of cell function caused by the genetic mutation.

Neurofibromatosis type 1 - mutation on chromosome 17 symptons include:

  • multiple neurofibromas on the skin and under the skin
  • various other skin phenomena such as freckling of the groin and the arm pit
  • a predisposition to particular tumors (both benign and malignant)
  • the presence of 6 or more Café au lait spots (pigmented birthmarks) may suggest the presence of this condition
  • skeletal abnormalities such as scoliosis or bowing of the legs might occur
  • lisch nodules (iris nevi)- a hamartoma of iris
  • tumor on the optic nerve
  • a predisposition for dysthymia, mood disorders and certain learning disabilities
  • a predisposition for tinnitus and an awareness of Visual snow or certain other "entoptic phenomenon"

Therapy for a patient with neurofibromatosis type I is aimed at palliating symptoms and improving quality of life. Treatment modalities offered may include radiation therapy, chemotherapy, and surgical resection or decompression of an enlarging lesion

Neurofibromatosis type 2 - mutation on chromosome 22. Symptoms include:

  • bilateral tumors, acoustic neuromas on the vestibulocochlear nerve. The hallmark of NF 2 is hearing loss due to acoustic neuromas around the age of twenty. the tumors may cause: headache, balance problems, vertigo, facial weakness/paralysis.
  • patients with NF2 may also develop other brain tumors, as well as spinal tumors
  • Deafness and Tinnitus

Early diagnosis allows better planning of therapy in young patients with NF II. In many cases the hearing loss is present for 10 years before the correct diagnosis is established. Early in the disease, surgery for an acoustic neurinoma can protect facial nerve function in many patients. In selected cases of patients with very small tumors and good bilateral hearing, surgery may offer the possibility of long-term hearing preservation.

Patients with the Wishard phenotype suffer multiple reccurrences of the tumour after surgical treatment. In the case of facial nerve palsy, the muscles of the eyelids can lose their mobility, leading to conjuctivitis and corneal injury. "Lidloading" (implantation of small magnets, gold weights, or springs in the lid) can help prevent these complications. Other means of preserving corneal health include tarsorrhaphy, where the eyelids are partially sewn together to narrow the opening of the eye, or the use of punctal plugs which block the duct that drains tears from the conjunctival sac. All these techniques conserve moisture from the lacrymal glands, which lubricates the cornea and prevents injury .Most patients with NF II develop cataracts, which often require replacement of the lens. Children of affected parents should have a specialist examination every year to detect developing tumors. Learning of sign-language is one means of preparation for those who will most probably suffer complete hearing loss.

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