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 · 2024
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Description
Alwa Hussien Aladia, Samar Hamdan, and Ahmad Alkheder report an infant case of a rare genetic disorder in this 2024 paper. The disorder blocks the body's making of cholesterol and causes many birth defects. The patient, a boy less than a month old, was born in Syria.
He showed a small head, unusual facial features, joined toes, and defects in several organs. He also suffered severe vomiting, poor feeding, and low blood salt. Tests found very low cholesterol, and gene tests confirmed the diagnosis. A cholesterol-lowering drug, used in an experimental way, eased his irritability and was tolerated well. The authors stress early recognition, and note theirs is the first documented case in Syria.
Catalog record
| CREATOR | Alwa Hussien Aladia, Samar Hamdan, Ahmad Alkheder |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 11 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |