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Gippel-Lindau Syndrome and its treatment in the child surgically

Gippel-Lindau Syndrome and its treatment in the child surgically

Etiology

Hippel-Lindau disease Is a pathology characterized by tumor growth in various organs and tissues. Most often the retina, various parts of the brain and spinal cord (mainly the cerebellum responsible for coordinating movements) are affected, where hemangiomas are formed (tumors of vascular origin and, as a rule, benign). Also, with this disease, kidney cancer and adrenal pheochromocytoma often occur (neoplasms that are hormonal active).

The disease was described for the first time in the early 20th century by the German ophthalmologist Evgen von Hippel and the Swedish pathologist Arvid Lindau.

The cause of this pathology is genetic. The disease is fairly rare, inherited by autosomal dominant signs and transmission of disease is due to the mutation of the gene located on the short arm of chromosomes of the third pair and responsible for the suppression of tumor growth. Manifestations of this pathology with hereditary history usually begin already by the age of 20 years.

The first signs of illness appear, in most cases, in the adolescent period, when numerous abnormalities develop in the vessels and capillaries of the retina, cerebellum and spinal cord. Initially, the eyes are affected, where hemorrhages and multiple hemangiomas occur, which can lead to detachment of the retina. Retinal angiomatosis occurs in 75% of cases of this pathology and is considered its marker.

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