4th March 2024

A 27-year-old Ashkenazi Jewish patient presents generalised abdominal pain

A 27-year-old Ashkenazi Jewish patient presents generalised abdominal pain. The pain is dull and continuous, with no clear exacerbating or relieving factors. Examination reveals a fullness in the abdomen with a hepatic edge felt at 4cm breath. The Fundoscopy was normal. Blood tests showed pancytopenia. USS abdomen reveals massive hepatosplenomegaly. X-ray of his femur shows osteopenia of both femoral shafts. Bone marrow biopsies were performed, and this showed macrophages filled with lipid materials.

What is the underlying diagnosis?

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