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Journals / Erciyes Tıp Dergisi / 2013 / Cilt: 35 - Sayı: 2

Smith-Lemli-Opitz sendromu: Olgu sunumu

Smith-Lemli-Opitz syndrome: A case report

Tahir ATİK
Özgür ÇOĞULU
Ferda ÖZKINAY
Hüseyin ONAY
Ayça AYKUT
Pages
83–86
Publication Date
2022-10-17
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

SLOS should be takeninto consideration in cases with multiple congenital anomalies,ambiguous genitalia, and mental retardation combined withlow cholesterol levels.

📌 3 Key Takeaways

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Objective & Hypothesis:Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessivemultiple malformation and intellectual disability syndrome.SLOS is caused by DHCR7 mutations in the gene encoding forthe delta 7 steroid reductase enzyme that converts 7-dehydro-cholesterol to cholesterol.
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Key Findings & Data:An 11-month-old boy was admittedto our clinic for failure to thrive, vomiting and ambiguous genitalia.
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Conclusion & Impact:SLOS should be takeninto consideration in cases with multiple congenital anomalies,ambiguous genitalia, and mental retardation combined withlow cholesterol levels.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessivemultiple malformation and intellectual disability syndrome.SLOS is caused by DHCR7 mutations in the gene encoding forthe delta 7 steroid reductase enzyme that converts 7-dehydro-cholesterol to cholesterol. An 11-month-old boy was admittedto our clinic for failure to thrive, vomiting and ambiguous genitalia. SLOS was considered in the differential diagnosis due toclinical features and low serum cholesterol levels. Sequencinganalysis of the DHCR7 gene showed a homozygous p.R352Q(c.1055 G>A) mutation in the patient. SLOS should be takeninto consideration in cases with multiple congenital anomalies,ambiguous genitalia, and mental retardation combined withlow cholesterol levels.

Özet

Smith-Lemli-Opitz sendromu (SLOS), otozomal resesif geçişlinöromotor gerilik ve davranış bozuklukları ile birlikte seyreden bir multipl konjenital malformasyon sendromudur. SLOS’a kolesterol biyosentezinde 7-dehidrokolesterolü (7DHK) kolesterole çeviren delta7-sterolredüktaz enzimini kodlayan DHCR7genindeki mutasyonlar neden olmaktadır. Onbir aylık erkek olgu kliniğimize beslenememe ve kusmaya bağlı büyüme geriliği ve kuşkulu genitalya yakınmaları ile getirildi. Muayenebulguları ve serum kolesterol düşüklüğü nedeniyle SLOS düşünüldü. DHCR7 gen dizi analizinde her iki allelde (homozigot) p.R352Q (c.1055 G>A) mutasyonu saptandı. Multipl konjenital anomalileri, belirsiz dış genital yapı ve nöromotor geriliği bulunan hastalarda kolesterol düşüklüğü saptanması durumundaSLOS’un ayırıcı tanıda yer almasının uygun olacağı vurgulanmak istenmiştir.

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Cite This Article

ATİK, T., ÇOĞULU, Ö., ÖZKINAY, F., ONAY, H., AYKUT, A. (2022). Smith-Lemli-Opitz sendromu: Olgu sunumu. Erciyes Tıp Dergisi, Cilt: 35 - Sayı: 2, 83–86. https://ajindex.com/articles/502380

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