Smith--Lemli--Opitz Syndrome: A Rare Cause of Severe Malnutrition
Yazarlar (1)
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Özgün Makale
(Uluslararası alan indekslerindeki dergilerde yayınlanan tam makale)
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| Dergi Adı | Deneysel Tıp Araştırma Enstitüsü Dergisi | ||
| Dergi ISSN | 2630-6050 | ||
| Dergi Tarandığı Indeksler | |||
| Makale Dili | İngilizce | Basım Tarihi | 09-2018 |
| Cilt / Sayı / Sayfa | 8 / 1 / 33–36 | DOI | 10.26650/experimed.2018.430582 |
| Makale Linki | https://doi.org/10.26650/experimed.2018.430582 | ||
| UAK Araştırma Alanları |
Sağlık Bilimleri
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| Özet |
| DOI: 10.26650/experimed.2018.430582 Smith–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 |
BM Sürdürülebilir Kalkınma Amaçları
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