Smith-Lemli-Opitz Sendromu: Olgu Sunumu
Makaleler > Tam Makale · 2013
Yazarlar: Tahir Atik, Huseyin Onay, Ayça AYKUT, Muhsin Özgür ÇOĞULU, Ferda Ozkinay
ERCIYES MEDICAL JOURNAL, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2013, cilt 35, ss 83-86
Özet
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple malformation and intellectual disability syndrome. SLOS is caused by DHCR7 mutations in the gene encoding for the delta 7 steroid reductase enzyme that converts 7-dehydrocholesterol to cholesterol. An 11-month-old boy was admitted to our clinic for failure to thrive, vomiting and ambiguous genitalia. SLOS was considered in the differential diagnosis due to clinical features and low serum cholesterol levels. Sequencing analysis of the DHCR7 gene showed a homozygous p.R352Q (c.1055 G>A) mutation in the patient. SLOS should be taken into consideration in cases with multiple congenital anomalies, ambiguous genitalia, and mental retardation combined with low cholesterol levels.