Saad Charbel, Aoun Christine, Iskandar Charbel, Hayek Tony, Matar Maroun, Megarbane Andre
Department of Pediatrics, Lebanese American University Medical Center-Rizk Hospital, Achrafieh, Beirut, Lebanon.
Department of Surgery, Division of Orthopedic Surgery and Trauma, Lebanese American University Medical Center-Rizk Hospital, Achrafieh, Beirut, Lebanon.
Case Rep Genet. 2024 Nov 21;2024:1397713. doi: 10.1155/crig/1397713. eCollection 2024.
Geroderma Osteodysplastica (GO) is a rare autosomal recessive connective tissue disease characterized by wrinkled skin and osteoporosis, two distinct aging-related features. A loss of function mutation in results in the disease. Immediately after birth, a cyanotic female neonate was found to have transposition of great vessels (TGV) that was corrected with an uneventful surgical recovery. The patient was noted to have wrinkled skin and hyperlaxity in her joints. After a complete nutritional and metabolic panel, in addition to karyotyping, imaging, skin histopathology analysis, and genetic testing she was found to have GO. We found two novel compound heterozygous mutations in : p.Asp236∗ and pAsp236Ala. This is the first study that reports the concurrent incidence of GO with TGV. The patient was started on bisphosphonates, which led to a reduction in the occurrence of fractures. An early diagnosis of GO is warranted to prevent or reduce bone density loss due to osteoporosis via initiation of bisphosphonate treatment. Whole exome sequencing remains the gold standard for diagnosing GO and ruling out phenotypically similar disorders.
格鲁德玛骨发育异常（GO）是一种罕见的常染色体隐性结缔组织疾病，其特征为皮肤皱纹和骨质疏松，这是两种与衰老相关的不同特征。[基因名称]的功能丧失突变导致了该疾病。出生后不久，一名患大血管转位（TGV）的青紫女婴接受了手术矫正，术后恢复顺利。该患者被发现有皮肤皱纹和关节过度松弛。在进行了全面的营养和代谢检查，以及核型分析、影像学检查、皮肤组织病理学分析和基因检测后，她被诊断为患有GO。我们在[基因名称]中发现了两个新的复合杂合突变：p.Asp236∗ 和 pAsp236Ala。这是第一项报道GO与TGV并发发生率的研究。患者开始接受双膦酸盐治疗，这导致骨折发生率降低。对GO进行早期诊断，通过启动双膦酸盐治疗来预防或减少因骨质疏松导致的骨密度损失是必要的。全外显子测序仍然是诊断GO和排除表型相似疾病的金标准。
