Aladia Alwa Hussien, Hamdan Samar, Alkheder Ahmad
Department of Pediatric, Children University Hospital, Faculty of Medicine, Damascus University, Damascus, Syria.
Department of Pediatric, Syrian Mouasat Association Hospital, Damascus, Syria.
Oxf Med Case Reports. 2024 Nov 20;2024(11):omae129. doi: 10.1093/omcr/omae129. eCollection 2024 Nov.
Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder that affects cholesterol synthesis and causes various physical and mental abnormalities. The case is a 25-day-old male infant who presented with multiple congenital anomalies, such as microcephaly, facial dysmorphism, syndactyly, hypospadias, and other organ malformations. He also had severe vomiting, feeding difficulty, irritability, dehydration, and hyponatremia. Laboratory tests showed low serum cholesterol, in addition to genetic tests, confirming the diagnosis of SLOS. The infant was treated with simvastatin, which improved his irritability and was well tolerated. The paper discusses the clinical features, diagnosis, and management of SLOS, and highlights the importance of early recognition and intervention for this rare case. It is also considered the first documented case in Syria.
史密斯-莱姆利-奥皮茨综合征（SLOS）是一种罕见的遗传性疾病，会影响胆固醇合成并导致各种身体和精神异常。该病例为一名25天大的男婴，患有多种先天性异常，如小头畸形、面部畸形、并指畸形、尿道下裂和其他器官畸形。他还出现了严重呕吐、喂养困难、易怒、脱水和低钠血症。实验室检查显示血清胆固醇水平低，基因检测进一步确诊为SLOS。该婴儿接受了辛伐他汀治疗，其易怒症状得到改善，且耐受性良好。本文讨论了SLOS的临床特征、诊断和管理，并强调了对这一罕见病例进行早期识别和干预的重要性。该病例也被认为是叙利亚有记录的首例病例。
