Fakomatosis

Fakomatosis - a group of hereditary diseases in which the defeat of the nervous system is combined with cutaneous or chorioretinal angiomatosis.

Neurofibromatosis Recklinghausen. Typical are multiple neurofibromas of peripheral nerves; Often neurofibromas are localized intracranially (usually cochleovestibular nerve) and intraspinapno, squeezing the brain. On the skin - pigmented spots (purple-cyanotic or "coffee with milk" colors), in the skin and subcutaneous tissue - multiple tumors. In some cases, there is scoliosis, bone cysts. In a significant part of patients, a high content of a factor stimulating the growth of elements of the nervous system is found in the blood. The prognosis of the disease depends on the availability to remove tumors of the brain and spinal cord.

Hippel-Lindau disease (cerebral-retinal angiomatosis) -combination of angioblastoma of the brain (usually the cerebellum) with retinal angiomatosis. This can be accompanied by pancreatic cysts, cysts or kidney tumors, as well as polycythemia. With the timely removal of angioblastoma, the prognosis is favorable.

Tuberous sclerosis (Burneville's disease) - tumor-like glia growths found in childhood. A triad is typical: progressive dementia, convulsive attacks and pigmented adenomas of the sebaceous glands of the face. There are often tumors of the heart, kidneys, lungs, periventricular calcifications. The outlook is unfavorable.

Sturgeon-Weber disease (encephalotrigeminal angiomatosis). Characteristic angiomatous pigmentation spots, especially in the frontal region, epileptiform cramps, in most cases, mental retardation, hemiparesis, contralateral pigmentation on the face, hemianopsia. Craniography-calcifications in the form of convolutions with two contours, which are based on angiomatosis of the parietal-occipital parts of the brain. The prognosis depends on whether the convulsive syndrome can be eliminated. In this case, the psyche may not suffer and the children develop normally.