Neurofibromatosis

Description:

Neurofibromatosis — group of hereditary diseases with characteristic changes on skin, in a nervous system, it is frequent in combination with anomalies in other bodies and systems.

At the moment allocate 6 types of a neurofibromatosis from which the greatest importance represent a neurofibromatosis like I (Reklingauzen's disease) and a neurofibromatosis like II (a neurofibromatosis with bilateral neurinoma of the VIII pair of cranial nerves).

Neurofibromatosis symptoms:

Diagnostic criteria (diagnosis requires existence not less than 2 criteria):

- On skin of "coffee with milk" color, everyone in the diameter more than 5 mm the child and more than 15 mm have 6 and more spots at the adult
- 2 and more neurofibromas (any) or 1 plexiform neurofibroma
- the strengthened coloring in axillary and inguinal areas
- glioma of an optic nerve
- 2 and more small knots of Lish — the painted gamartoma of an iris of the eye of an eye.
The expressed bone anomalies in the form of a dysplasia of the main bone, thinning of a cortical layer of long bones with a pseudoarthrosis or without that
The closest relative with the diagnosed neurofibromatosis like I (mother, the father, the brother, the sister, the child).
At patients with a neurofibromatosis like I observe the increased risk of development of malignant tumors: neuroblastomas, ganglioglioma, sarcomas, leukoses, Vilms's tumor.

Feature of a disease is the specific sequence of manifestation of symptoms depending on age of the patient that complicates diagnosis of a neurofibromatosis of the I type at early children's age. Since the birth or the first years of life there can be only some signs of a neurofibromatosis of the I type (a large nevus pigmentosus, plexiform neurofibromas, damages of a skeleton). Other signs can be shown considerably later (by 5–15 years).

Neurofibromas represent the most expressed display of a disease of Recklinghausen, their quantity sometimes reaches several thousand; plexiform neurofibromas can be huge, weighing more than 10 kg. These cosmetic defects, as a rule, most of all disturb patients. Besides, neurofibromas are connected with the increased risk of regeneration in a malignant tumor. At an arrangement in a thorax, in an abdominal cavity, in an eye-socket they lead to disturbance of functions of adjacent bodies.

From time to time the quantity and the sizes of neurofibromas in response to various incentives among which the leading place is taken hormonal reorganization of an organism grows: teenage age, the period of pregnancy or after the delivery, and also the postponed injuries or a serious illness. Very often growth of neurofibromas is promoted by surgical interventions, some cosmetic procedures, physiotherapeutic procedures (for example, massage, warming up). But often the disease progresses also against the background of the seeming wellbeing.

Manifestations of a neurofibromatosis like II
Diagnostic criteria:

- bilateral neurinoma of the VIII pair of cranial nerves (according to a tomography)
OR:

- the closest relative with the diagnosed neurofibromatosis like II (mother, the father, the brother, the sister, the child), in combination with:
unilateral neurinoma of the VIII pair of cranial nerves
OR:

2 signs from listed below:

neurofibroma
meningioma
glioma (astrocytoma, ependymoma)
shvannoma (including and spinal)
juvenile back subkapsulyarny cataract.
The accompanying manifestations of a neurofibromatosis like II (but not diagnostic criteria): epileptic seizures, skin manifestations (spots of "coffee with milk" color, skin neurofibromas), multiple spinal tumors (ependymoma, shvannoma, meningioma).

Neurofibromatosis reasons:

The disease is caused by a gene mutation "nf1" in a 17q-chromosome. Men and women are surprised equally often. About a half of cases — the investigation of new mutations. There is an assumption that the gene "nf1" enters into group of the genes suppressing growth of tumors. Decrease or lack of protein of a neyrofibromin which elaboration is controlled by a gene "nf1" leads to regeneration of cells.

Treatment of the Neurofibromatosis:

Scheme of treatment of a neurofibromatosis of the I type: Ketotifenum is appointed on 2-4 mg short courses for two months. To avoid complications, in the first two weeks of administration of drug it is recommended to apply in parallel Phencarolum on 10-25 mg three times a day. As the drug reducing cell fission speed apply тигазон in a dose not less than 1 mg on kilogram of body weight or Aevitum to 600 000 ME taking into account portability. Also by courses it is applied a lidaz (mukopolisakharidaz) in a dose of 32-64 Pieces depending on age intramusculary, every other day, on a course of 30 injections.