A Case of Smith-Lemli-Opitz Syndrome Diagnosed with Hypertrophic Pyloric Stenosis

Smith-Lemli-Opitz syndrome (SLOS) is caused by a deficiency in the enzyme 7-dehydrocholesterol reductase (DHCR7) that results in an abnormality in cholesterol metabolism. SLOS is inherited as an autosomal recessive genetic disorder. In this case, we describe a 34-day-old patient with postnatal progressive projectile vomiting, diagnosed with hypertrophic pyloric stenosis, who was suspected to have SLOS during treatment clinical and biochemical profile. A 34-day-old patient with progressively worsening vomiting and abdominal distention, diagnosed as hypertrophic pyloric stenosis, was operated by pediatric surgery department. After operation, the patient required pediatric intensive care unit admission due to respiratory distress, anemia, hypoalbuminemia, and generalized edema. Physical examination of our patient revealed dysmorphic facial features, finger anomalies, sacral dimple, and ambiguous genitalia, with chromosomal determination as XY. Molecular genetic testing was performed, and mutations in the DHCR7 gene of homozygous c.1342G>A/p.Glu448Lys (rs80338864) were detected. Infants with progressive projectile vomiting, feeding problems, and multiple anomalies with dysmorphic facial anomalies may be suspected to have SLOS and their families should be advised to have genetic testing and genetic counseling.

Hipertrofik pilor stenozu tanýlý bir smith lemli opitz sendromu olgusu

Giriþ; Smith Lemli Opitz Sendromu (SLOS), kolesterol biyosentezindeki enzim eksikliði sonucunda geliþen otozomal resesif kalýtým özelliði gösteren metabolik bir hastalýktýr. Bu olgu ile þiddetli kusma yakýnmasý ile getirilen, pilor stenozu tanýsý ile izlenirken nadir bir hastalýk olan SLOS tanýsý alan olgu irdelenmiþtir.
OLGU: 34 günlük bebek postnatal dirençli kusmasý ve batýn distansiyonu geliþmesi nedeni ile çocuk cerrahisi kliniðinde hipertrofik pilor stenozu tanýsý konularak opere edildi. Olgu, ameliyat sonrasý solunum sýkýntýsý, yaygýn ödem, anemi ve hipoalbuminemi geliþmesi nedeni ile çocuk yoðun bakým kliniðine yatýrýldý. Dismorfik yüz bulgularý, parmak anomalisi, sakral dimple, ambigus genitalyasý olan olgunun kromozom incelmesi XY ile uyumlu ve tüm dizi ekzon analizinde DHCR7 geninde homozigot c.1342G>A/p Glu448Lys(rs80338864) mutasyonu saptandý.
SONUÇ: Beslenme güçlüðü, kusma yakýnmasý ile getirilen, pilor stenozu düþünülen, dismorfik yüz bulgularý ile çok sayýda anomalisi olan olgularda SLOS akýlda tutularak genetik inceleme yapýlmalý ve aileye genetik danýþma önerilmelidir. (SETB-2020-01-09)