| Yazarlar |
| Özet |
| DOI: 10.26650/experimed.2018.430582Smith--Lemli--Opitz syndrome (SLOS) is a cholesterol synthesis disorder, with an etiology of severe malnutrition, which is often excluded from typical differential diagnostic strategies. However, SLOS can be detected during a careful physical examination; thus, it was selected to draw attention to the malnutrition etiology.It was selected to exemplify how an inborn error in cholesterol metabolism can induce malnutrition. A four month old girl was referred to our polyclinic with a diagnosis of severe acute malnutrition since 4 months. She was the only child from a second pregnancy; the first child of her non-consanguineous parents was lost due to an abortion. Physical examination involving weight, height, and head circumference were at third centimeter persentile and below; additionally, dysmorphic facial appearance and syndactyly between the second and third finger of the foot feet was noted. Neuromotor development was normal for her age. Suspecting a phenotype suggesting a congenital problem, a lipid analysis was performed that revealed hypolipidemia. SLOS was considered as a differential diagnosis. Accordingly, the level of biomarker 7 dehydrocholesterol was assessed controlled and was found to be 1772, which was considerably higher than normal (normal < 10 mmol/L). Subsequently, molecular assay revealed pTyr432Cys (c.1295A> G) htr pArg446Trp (c.1336C> T) heterozygous mutation. Steroid hormone levels, bile acid synthesis, fat-soluble vitamin absorption, and central nervous system development may be negatively affected because they were evaluated in detail. No other pathology was ... |
| Anahtar Kelimeler |
| Makale Türü | Özgün Makale |
| Makale Alt Türü | Uluslararası alan indekslerindeki dergilerde yayımlanan tam makale |
| Dergi Adı | Deneysel Tıp Araştırma Enstitüsü Dergisi |
| Dergi ISSN | 2630-6050 |
| Dergi Tarandığı Indeksler | |
| Makale Dili | İngilizce |
| Basım Tarihi | 09-2018 |
| Cilt No | 8 |
| Sayı | 1 |
| Sayfalar | 33 / 36 |
| Doi Numarası | 10.26650/experimed.2018.430582 |
| Atıf Sayıları |
