Publications by authors named "Alwa Hussien Aladia"
Oxf Med Case Reports
November 2024
Article Synopsis
- Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder that disrupts cholesterol synthesis, leading to a range of physical and mental developmental issues.
- A case study focuses on a 25-day-old male infant with congenital anomalies like microcephaly and syndactyly, alongside serious symptoms such as severe vomiting, irritability, and dehydration.
- Laboratory tests confirmed low serum cholesterol and a genetic diagnosis of SLOS, with treatment involving simvastatin leading to improved symptoms; this case is notable as the first documented instance of SLOS in Syria.
