Gaucher Disease in a Two-Year-Old Girl with Hyperferritinemia: A Case Report

Gaucher Disease (GD) is the most prevalent inherited lysosomal storage disorder characterized by a glucocerebroside enzyme deficiency. This hydrolase that plays role in breakdown of glycosphingolipid complex. In general population, this disease rare, with an incidence about 0.39 to 5.80 per 100.000 birth and prevalence 0.70 1.75 birth. We reported two-year-old female patient who presented gradual increase abdominal circumference gum bleeding. There family history third-degree consanguinity. Physical examination showed hepatosplenomegaly, laboratory results revealed presence hyperferritinemia pancytopenia. Bone marrow biopsy cells. The diagnosis GD was confirmed low level glucocerebrosidase activity (0.27 uM/hr) homozygous mutation exon 11 (c.1448T>C) GBA gene, indicating autosomal recessive GD. Conclusion: Early identification through clinical histological findings critical. Children unexplained hepatosplenomegaly should be suspected as one differential diagnosis. early key effective management, such replacement, which may decrease its morbidity.