Gaucher Disease - From Textbook Obscurity to Clinical Reality: A Case Report with Diagnostic and Therapeutic Implications at Moi Teaching and Referral Hospital

Abstract

Gaucher’s disease is a rare lysosomal storage disorder caused by a deficiency of the enzyme β-glucocerebrosidase, leading to progressive accumulation of glucocerebroside within macrophages. Clinical presentations vary widely, often resulting in misdiagnosis, particularly in resource-limited settings where advanced diagnostics are unavailable. A 1-year-old female presented to Moi Teaching and Referral Hospital (MTRH), Kenya, with a 2-month history of progressive, painless abdominal swelling, without fever, vomiting, jaundice, or weight loss. She had been misdiagnosed with sickle cell disease and treated with hydroxyurea, without improvement. Examination revealed pallor, massive splenomegaly (20 cm), and hepatomegaly (4 cm), with no lymphadenopathy or bone deformities. Laboratory tests showed anemia, thrombocytopenia, and elevated LDH. Bone marrow biopsy revealed Gaucher cells, confirming Type 1 GD. The patient was managed supportively with transfusions, nutritional support, and infection prevention, and referred for enzyme assays, enzyme replacement therapy, and follow- up. This case highlights the diagnostic challenges in low-resource settings, where advanced enzyme assays and molecular testing are often unavailable, and treatment options such as enzyme replacement therapy (ERT) remain inaccessible. It emphasizes the need for heightened clinical suspicion, improved diagnostic infrastructure, and advocacy for affordable therapeutic access in sub-Saharan Africa.