Ghzawi Ansam, Hirbawi Hawazen, Negida Ahmad, Abu-Farsakh Hussam
Faculty of Medicine, Yarmouk University, Irbid, Jordan.
Faculty of Medicine, Jordan University of Science and Technology, Irbid, Jordan.
Ann Med Surg (Lond). 2021 Nov 3;71:103014. doi: 10.1016/j.amsu.2021.103014. eCollection 2021 Nov.
Cohen's syndrome is a rare autosomal recessive developmental disorder. It usually presents with a wide variety of muscular, neurological and ophthalmological clinical features. In this report, we present a rare case of the first Jordanian male identical twin with Cohen syndrome with the first ever muscle biopsy results reported.
A 20 months old identical male twins were presented for follow up with history of Salam seaziure, muscle dystocia and signs of development delay since five months old. A muscle biopsy and genetic analysis were done accordingly. Under light microscopy, the H&E and Trichome stains sections showed muscle fibers with minimal variation in muscle fiber size. No muscular degeneration, fat replacement, or fibrosis in the periendomysial area. Increased fibroblasts proliferation was seen in between the muscle fibers. The Dystrophy panel including Dystrophin, Dysferlin, Adhalin (alpha 1 sacroglycan) and Emerin showed a normal staining pattern. The heterozygous mutation pattern seen in the vacuolar protein sorting 13 homolog B (VPS13B) gene is a pathogenic variant of Cohen syndrome. The diagnosis was done accordingly.
To the best of our knowledge, this is the first case report of Cohen's syndrome from the Jordanian population, and the first muscle biopsy report in a Cohen's syndrome patient ever. This makes a unique educational report and a good guidance for future research in this concern.
科恩综合征是一种罕见的常染色体隐性发育障碍。它通常表现出多种肌肉、神经和眼科临床特征。在本报告中，我们呈现了一例罕见病例，即首例患有科恩综合征的约旦男性同卵双胞胎，并报告了其首例肌肉活检结果。
一对20个月大的同卵男性双胞胎前来复诊，自5个月大起就有萨拉姆癫痫发作、肌肉难产及发育迟缓迹象的病史。据此进行了肌肉活检和基因分析。在光学显微镜下，苏木精-伊红（H&E）染色和三色染色切片显示肌纤维大小变化极小。肌束膜周围区域未见肌肉变性、脂肪替代或纤维化。在肌纤维之间可见成纤维细胞增殖增加。包括肌营养不良蛋白、肌膜蛋白、α1-糖肌蛋白和emerin在内的肌营养不良检测显示染色模式正常。在液泡蛋白分选13同源物B（VPS13B）基因中发现的杂合突变模式是科恩综合征的致病变体。据此做出诊断。
据我们所知，这是约旦人群中科恩综合征的首例病例报告，也是科恩综合征患者的首例肌肉活检报告。这成为一份独特的教育报告，并为该领域未来的研究提供了良好的指导。
