A 5-year-old male was brought in with complaints of progressive abdominal distension over the past 6 months. According to the child's mother, he appears weak and has a history of bruising, even with minor injuries. The family history is notable, as a sibling with similar symptoms underwent multiple blood transfusions before passing away at the age of 3 years. The patient himself has no history of chronic illness. On physical examination, pale skin, pedal edema, splenomegaly, and hepatomegaly were observed. Neurological examination findings were normal. Laboratory investigations revealed a hemoglobin level of 5.5 g/dL, a white blood cell count of 15900/mL, a platelet count of 80000/mcL, and a reticulocyte count of 2.3%. Other biochemical parameters, including kidney function, liver function, and serum electrolytes, were within normal range. Abdominal ultrasound showed hepatosplenomegaly. A bone marrow aspiration was performed, which revealed the presence of crinkled paper macrophages in the marrow space. A beta-glucosidase test was also recommended, and the levels were found to be 6.2 nmol/h/mg.