Jilani Houweyda, Hsoumi Faten, Rejeb Imen, Elaribi Yasmina, Hizem Syrine, Sebai Molka, Rolfs Arndt, Benjemaa Lamia
Genetic Department Mongi Slim Hospital Marsa, Tunis Tunisia.
Genetic Laboratory Faculty of Medicine of Tunis University of Tunis El Manar Tunis Tunisia.
Clin Case Rep. 2022 May 12;10(5):e05846. doi: 10.1002/ccr3.5846. eCollection 2022 May.
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.
戈谢病（GD）是一种由该基因的致病变异引起的罕见代谢紊乱疾病。我们报告了突尼斯人群中首例该基因罕见的p.Arg87Trp致病变异（原称R48W）。一名26岁的阿拉伯女性患者因自25岁起出现腹胀、骨痛和头痛前来就诊。体格检查发现脾肿大、肋骨变形、腰椎侧弯和上肢震颤。骨髓被戈谢细胞浸润。该患者为罕见的p.Arg87Trp变异纯合子，已知该变异与轻度表型相关。本报告强调了对突尼斯人群进行这种罕见变异筛查的必要性。
