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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.
Introduction; Smith Lemli Opitz Syndrome (SLOS) is a metabolic disease that shows the autosomal resessive hereditary characteristic that develops as a result of an enzyme deficiency in cholesterol biosens. This phenomenon was brought with severe vomiting, the phenomenon that was diagnosed with a rare disease, SLOS, which was observed with the diagnosis of pilor stenosis. OLGU: 34-day baby was operated with the diagnosis of hypertrophic pilor stenosis in the pediatric clinic due to postnatal resistant vomiting and the development of the western distance. The incident, after surgery, was caused by respiratory failure, common swelling, anemia and hypoalbuminemia development, and the child was placed in an intensive care clinic. Dismorphic facial findings, finger anomaly, sacral dimple, ambigus genitaly, the phenomenon's chromosome examination is compatible with XY and in the entire series of exon analysis, the mutation of homozigot c.1342G>A/p Glu448Lys(rs80338864) in the DHCR7 gene was detected. The result: in cases of nutritional difficulties, brought with vomiting, pilor stenosis considered, dismorphic faces findings and numerous anomalies, SLOS should be taken into consideration by genetic examination and family genetic consultation should be recommended. (SETB-2020-01-09)
Field : Sağlık Bilimleri
Journal Type : Ulusal
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