First documented case of Smith-Lemli-Opitz syndrome in Syria: clinical presentation, diagnosis, and experimental management with simvastatin

Alwa Hussien Aladia; Samar Hamdan; Ahmad Alkheder

doi:10.1093/omcr/omae129

First documented case of Smith-Lemli-Opitz syndrome in Syria: clinical presentation, diagnosis, and experimental management with simvastatin

Oxf Med Case Reports. 2024 Nov 20;2024(11):omae129. doi: 10.1093/omcr/omae129. eCollection 2024 Nov.

Authors

Alwa Hussien Aladia^{1

2

3}, Samar Hamdan^{1

4}, Ahmad Alkheder^{5

6}

Affiliations

¹ Department of Pediatric, Children University Hospital, Faculty of Medicine, Damascus University, Damascus, Syria.
² Department of Pediatric, Syrian Mouasat Association Hospital, Damascus, Syria.
³ Faculty of Medicine, Al- Baath University, Homs, Syria.
⁴ Faculty of Medicine, Tishreen University, Lattakia, Syria.
⁵ Department of Otorhinolaryngology, Al Mouwasat University Hospital, Faculty of Medicine, Damascus University, Damascus, Syria.
⁶ Faculty of Medicine, Syrian Private University, Damascus, Syria.

Abstract

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.

Keywords: 7-dehydrocholesterol; SLOS; Smith-Lemli-Opitz syndrome; first case; genetic disorder; simvastatin.

Publication types

Case Reports