Diagnostic conundrum of progressive pallor and hepatosplenomegaly in a toddler

Abstract

Progressive pallor with hepatosplenomegaly is an alarming constellation of signs in children indicating a serious, ongoing disease process which has to be investigated for. Anemia and hepatosplenomegaly can be caused by a wide spectrum of conditions ranging from benign to life-threatening ones. We report the case of a 4-year-old child who presented with progressive pallor and hepatosplenomegaly along with diagnostic approach and review of literature. The child was diagnosed to have Gaucher disease.

Keywords

• child
• gaucher disease
• hepatosplenomegaly
• pallor