RESUMEN
Introduction: 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.
RESUMEN
Introduction: Primary breast Burkitt lymphoma is extremely rare. Commonly endemic Burkitt lymphoma presents with abdominal, jaw, periorbital, or genitourinary mass. Case Presentation: We report a case of a 16-year-old girl with rapidly enlarging left breast swelling associated with evening fevers. This was later confirmed to be stage 1 primary breast Burkitt lymphoma involving the left breast. This represents the first described case of primary breast endemic Burkitt lymphoma in Uganda. She was started on chemotherapy and exhibited an impressive response to the drugs. Conclusion: This case raises awareness of rare sites for endemic Burkitt lymphoma in Uganda. Accurately diagnosing this case was of great importance since it determined the treatment modality (mastectomy or not) which would have an everlasting impact on her life.