Illness to Gosha - concerns to sphingolipidoses: to illnesses of storage of lipids; it is caused by defect of the gene responsible for synthesis of hydrolytic enzyme. Defect and deficiency of this enzyme conduct to disturbance of recycling of lipids and their accumulation in macrophages of mainly osteal brain, a lien, a liver. Allocate three types of illness to Gosha. Type 1 (good-quality) in 30 times meets at Jews (Ashkenazi's West-European group) is more often; neurologic disturbances thus are absent, visceral changes are bound mainly to hemopoietic organs, augmentation of a lien, the phenomena of a hypersplenism, a destruction of an osteal tissue. At two other types of any ethnic prevalence it is noted. Type 2 represents the malignant form of process with rasping neurologic disturbances which are shown already at newborns and conduct to mors in the first 2 years of a life. Type 3 differs variability of visceral and neurologic disturbances; On current it less malignant, than type 2.

Etiology. Illness to Gosha is inherited weakly; children of the sick parent, as a rule, are not ill. However there are cases of illness of nephews, the aunt and the uncle. The mutation of a gene, the leader to illness to Gosha, obviously, promoted evolutionary selection of faces with this defect that has caused prevalence of this mutation in one of ethnic groups.

Pathogenesis. Accumulation of lipids in macrophages; due to their duplication the lien, a liver are enlarged, the structure of tubular bones is broken.

Clinical picture. In the beginning asymptomatic augmentation of a lien, then a liver, an ostealgia. In a blood the cytopenia gradually accrues. In an osteal brain, a liver and a lien - an abundance of cells to Gosha.