Gaucher Disease: A Rarity in Three Types

Gaucher's Disease: Three rare races give individuals a wonderful tradition and celebrate their legacy. However, for some German Jews, the race made them more than just negotiations: a rare condition that caused many of the liver, lung, spleen, bone and bone problems. The race brought them the first type of Gaucher disease. Type II and type III are the other two forms of this rare genetic disorder and can occur with the same frequency in all races.

The pathological feature of Gaucher's disease is a large tissue cell containing glucosylceramide, which is present in the reticuloendothelial system, in particular in the bone marrow. The presence of inclusion bodies in the cytoplasm imparts a "wrinkle paper appearance" characteristic of Gaucher cells. The presence of Gaucher cells in bone marrow aspiration and tissue biopsy strongly suggests this disease. Diagnosis was confirmed by measuring the activity of glucocerebrosidase in isolated white blood cell leukocytes or cultured fibroblasts.

Tay-Sachs disease is the first disease described in 1881 when Gaucher disease continues in 1881. From the late 1950's to the early 1960's, de Duve et al. Identified cellular organelles responsible for intracellular digestion and polymer recycling using cell separation techniques, cytological studies, and biochemical analyzes And characterized. This is a scientific advance that leads to an understanding of the physiological basis of LSD. Pompe disease is the first disease identified as LSD, L in 1963. She reported this disease due to alpha-glucosidase deficiency. She also suggested other diseases like mucopolysaccharidosis.

Classically described ocular neurological and neurological associations of this disease include conjunctival pterygium, squamous and closed jaws, and posterior curvature of the neck. Gauss type 2 and type 3 eye movement disorder is gradual decrease in gaze level in the case of voluntary saccade simulating congenital eye movement disorder. 4,5 Horizontal nuclear fixation paralysis is usually one of the first neurological symptoms of neuropathic Gaucher disease, and six vitreous clouds report the incidence of 3% vitreous opacity. Because more circulating glucose ceramide is available, only those who undergo splenectomy tend to form vitreous aggregates. Shrey et al