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

Abstract

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