Gippelya-Lindau's disease
Contents:
Description:
Gippel's disease — Lindau (a cerebroretinal angiomatosis) – факоматоз at which hemangioblastomas of a cerebellum are combined with angiomas of a spinal cord, multiple inborn cysts of a pancreas and kidneys. At a quarter of patients the kidney carcinoma, often primary and multiple develops.
Gippelya-Lindau etiologies:
The disease is inherited autosomal is prepotent, caused by a mutation of a gene suppressor of the tumoral growth (VHL) localized on a short shoulder of the 3rd chromosome.
Symptoms of a disease of Gippelya-Lindau:
Symptoms of a disease become obvious in the 2nd decade of life — one of the first hemorrhage in an eyeglobe or in a back cranial pole with symptoms of intracranial hypertensia or cerebellar frustration is found. In most of patients in cerebrospinal liquid find increase in protein content, in a half of children with cerebellum tumors — increase in number of cells.
Retina hemangiomas are often noted. Owing to disturbance of permeability of walls of capillaries in them can collect sub – and the intraretinalny exudate containing lipids. In late stages of a disease exudative amotio of a retina develops.
Diagnosis:
The diagnosis of a disease of Gippel - Lindau is based in the real observation on a characteristic combination of a cystous tumor of a cerebellum (angioretikulema) to a cystous degeneration of a retina. According to the anamnesis, the genetic nature of a disease with inheritance on autosomal dominantly type clearly is traced.
Treatment of a disease of Gippelya-Lindau:
At operational treatment of patients with Gippelya-Lindau's disease it is necessary to consider the plurality of hemangioblastomas characteristic of this disease. Considering the fact that new tumors at any time can develop, it is impossible to achieve final treatment in the surgical way. In spite of the fact that removal of hemangioblastomas of TsNS do not involve constant disturbances, removal of all tumors at Gippelya-Lindau's disease is unreasonable.
Patients with Gippelya-Lindau's disease are recommended to undergo annual control. During similar control inspection the magnetic and resonant tomography (MRT) of the head and spinal cord is carried out. According to results of inspection decides what tumors need to be deleted. As a rule, only those tumors which cause complaints are removed or increase in sizes.
