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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.

Yekosani MitalaAbraham BirungiBranchard MushabeJohn ManziBrian SsenkumbaRaymond AtwineSiyadora Ankunda
Published in: Journal of blood medicine (2024)
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.
Keyphrases
  • plasmodium falciparum
  • genome wide
  • gene expression
  • fatty acid
  • copy number
  • dna methylation