Type 1 Gaucher’s Disease. A Rare Genetic Lipid Metabolic Disorder Whose Diagnosis Was Concealed by Recurrent Malaria Infections in a 12-Year-Old Girl

Abstract

Yekosani Mitala,1 Abraham Birungi,1 Branchard Mushabe,2 John Manzi,3 Brian Ssenkumba,1 Raymond Atwine,1 Siyadora Ankunda2,4 1Department of Pathology, Mbarara University of Science and Technology, Mbarara City, Uganda; 2Department of Pediatrics, Kabale University, Kabale, Uganda; 3Department of Surgery, Mbarara University of Science and Technology, Mbarara City, Uganda; 4Department of Pediatrics, Mbarara Regional Referral Hospital, Mbarara City, UgandaCorrespondence: Yekosani Mitala, Email [email protected]: Gaucher 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-neuronopathic Gaucher disease and superimposed malaria. The disease was initially misdiagnosed as hyperreactive malarial splenomegaly but was subsequently confirmed by examination of the bone marrow smear and core. The disease was managed supportively and splenectomy was done due to worsening hematological parameters. She currently takes morphine for bone pains in addition to physiotherapy.Conclusion: Always HMS is a common complication in malaria endemic areas, other causes of hepatosplenomegaly need to be excluded before the diagnosis is made. Diagnosis and treatment of patients with rare conditions like GD is still a challenge in developing countries. Although splenectomy is indicated in GD, it should only be done when it is absolutely necessary.Keywords: type 1 Gaucher’s disease, case report, Uganda

Keywords

• type 1 gaucher’s disease
• case report
• uganda.