Yekosani Mitala*, Abraham Birungi, Branchard Mushabe, John Manzi, Brian Ssenkumba and Siyadora Ankunda
Introduction: Gaucher’s disease is a rare autosomal recessive lysosomal storage disease with unknown prevalence in Africa and no record of the disease exists in Uganda.
Case presentation: We report a case of a 12-year-old female, the last born of 6 from a family with no known familial disease who presented with non-neuropathic Gaucher’s disease and superimposed malaria. The disease was initially misdiagnosed as hyper reactive malarial splenomegaly but was subsequently confirmed by examination of the bone marrow smear and core. The disease was managed supportively and because of the worsening hematological parameters, a splenectomy was done. She currently takes morphine for bone pains in addition to physiotherapy.
Conclusion: Clinicians must always exclude other possible causes of hepatosplenomegaly before diagnosis of HMS. Treatment and management of patients with rare conditions like GD need to improve. Although splenectomy is indicated in GD, it should only be done when it is absolutely necessary.
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Journal of Metabolic Syndrome received 48 citations as per Google Scholar report
