Abstract

MILLAN BATISTA, Rodolfo et al. Type 1 Gaucher’s Disease. Presentation of a Case. ccm [online]. 2017, vol.21, n.3, pp.924-931. ISSN 1560-4381.

Gaucher disease is a rare autosomal recessive disorder due to the absence of the enzyme glucocerebrosidase, resulting in accumulation of glucocerebrosides in the endothelial reticulum system. It is manifested by hematic alterations, hepatosplenomegaly and neurological and bone manifestations. Cells that accumulate the glucocerebroside are called Gaucher cells. A 16-year-old white female patient of rural origin who came to Octavio de la Concepción y de La Pedraja Provincial Pediatric Hospital presenting anemia, decay and weight loss, was also accompanied by an increase in volume abdomen. With the history of presenting aseptic necrosis of the right femur and diabetic mother. Physical examination revealed the presence of large mucosal skin paleness, hepatosplenomegaly. The neurological examination was completely normal. Anemia and thrombocytopenia were found on the blood tests. Biopsy of the spleen, liver and bone marrow was performed with Gaucher cells. The diagnosis was made based on the clinic, with heavy presence of bone manifestations and hepatosplenomegaly. It was also based on histological observation of Gaucher cells and on the determination of low levels of glucocerebrosidase enzyme activity in blood leukocytes or cutaneous fibroblasts.

Keywords : Gaucher's disease; glucocerebrosides; hepatosplenomegaly.

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