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Gaucher Disease in 20-Month-Old Ethiopian Boy with a Massive Splenomegaly and Failure to Grow: Challenges in Case Management

2022-12-21

Abstract excerpt

<h4>Background: </h4> Gaucher disease is an autosomal recessive lipid storage disorder caused by genetic mutations in the GBA gene. Symptoms are variable, range from asymptomatic to perinatal lethality, and can occur at any age. Case report: This report details a case of a 20-month-old male born in Harar and referred to Hiwot Fana Specialized University Hospital, Harar, Ethiopia for evaluation of severe acute maln...

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Literature Corpus work: 8c45523f-aa98-503b-add4-9f756199f0c2
DOI: 10.21203/rs.3.rs-2343408/v1

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