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Papers of the Week

2022 May

Clin Case Rep



A rare homozygous p.Arg87Trp variant of the gene in Gaucher disease: A case report.


Jilani H, Hsoumi F, Rejeb I, Elaribi Y, Hizem S, Sebai M, Rolfs A, Benjemaa L
Clin Case Rep. 2022 May; 10(5):e05846.
PMID: 35592045.


Gaucher disease (GD) is a rare metabolic disorder due to pathogenic variants in the gene. We report the first case of the rare p.Arg87Trp pathogenic variant (formerly known as R48W) of the gene in the Tunisian population. A female Arab patient was assessed at the age of 26 due to abdominal distension, bone pain, and headache since she was 25. Physical examination revealed splenomegaly, rib deformation, lumbar scoliosis, and upper limb tremor. Bone marrow was infiltrated by Gaucher cells. The patient was homozygous for the rare p.Arg87Trp variant which is known to be associated with a mild phenotype. This report highlights the necessity of screening the Tunisian population for this rare variant.