Smith-Lemli-Opitz sendromu: Olgu sunumu
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Dosyalar
Tarih
2006
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Cilt Başlığı
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Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Smith-Lemli-Opitz sendromu otozomal resesif geçen, çok sayıda doğuştan malformasyonun eşlik ettiği nadir görülen bir sendromdur. Smith-Lemli-Opitz sendromlu olgularda kolesterol biyosentezinin son basamağında 7-dehidrokolesterolü kolesterole çeviren ve geni 11q13'de lokalize bir enzim olan 7-dehidrokolesterol redüktazın doğuştan eksikliği mevcuttur. Otuz beş haftalık 1500 gr doğan bebeğin cildi kuru ve parşömen kâğıdı görünümünde, mikrognati, hipertelörizm, düşük kulak, antevert burun delikleri, belirgin filtrum, yarık damak, el parmaklarında ulnar deviasyon ve distal fleksiyon kontraktürü, çomaklaşma, ayaklarda pes ekino varus deformitesi ve çekiç topuk, sağ ayakta sindaktili, ambigius genitalya mevcuttu. İncelemelerde total kolesterol 108 mg/dl LDL kolesterol 48.8 mg/dl bulundu. Yirmi beşinci gün hayatını kaybeden olgunun otopsisinde iki loblu sağ akciğer, atriyal septal defekt, patent duktus arteriyozus, üreterlerde iki taraflı yerleşim anomalisi, sol sürrenalde insitu saptandı.
Smith-Lemli-Opitz syndrome is a rare autosomal recessive disorder which is accompanied by many congenital malformations. The syndrome is caused by a congenital deficiency of 7-dehydrocholesterol reductase which is localized on 11q13 gene and it is the final enzyme in the sterol synthetic pathway that converts 7-dehydrocholesterol to cholesterol. The infant was born on the 35. week of gestation and weighed 1500 grams. Anomalies evident on physical examination included dry and thinned skin, micrognathia, hypertelorism, low-set ears, anteverted nares, a long philtrum, cleft palate, ulnar deviation and distal flexion contracture of the fingers, equinovarus deformity and hammer toe, syndactyly of the right toes and ambiguous genitalia. Total cholesterol concentration was 108 mg/dl and LDL-cholesterol was 48.8 mg/dl. The infant died on postnatal day 25 and her autopsy revealed a right lung with two lobes, atrial septal defect, patent ductus arteriosus, bilateral dislocation of the ureter and insitu in the left adrenal gland.
Smith-Lemli-Opitz syndrome is a rare autosomal recessive disorder which is accompanied by many congenital malformations. The syndrome is caused by a congenital deficiency of 7-dehydrocholesterol reductase which is localized on 11q13 gene and it is the final enzyme in the sterol synthetic pathway that converts 7-dehydrocholesterol to cholesterol. The infant was born on the 35. week of gestation and weighed 1500 grams. Anomalies evident on physical examination included dry and thinned skin, micrognathia, hypertelorism, low-set ears, anteverted nares, a long philtrum, cleft palate, ulnar deviation and distal flexion contracture of the fingers, equinovarus deformity and hammer toe, syndactyly of the right toes and ambiguous genitalia. Total cholesterol concentration was 108 mg/dl and LDL-cholesterol was 48.8 mg/dl. The infant died on postnatal day 25 and her autopsy revealed a right lung with two lobes, atrial septal defect, patent ductus arteriosus, bilateral dislocation of the ureter and insitu in the left adrenal gland.
Açıklama
Anahtar Kelimeler
Genel ve Dahili Tıp
Kaynak
Trakya Üniversitesi Tıp Fakültesi Dergisi
WoS Q Değeri
Scopus Q Değeri
Cilt
23
Sayı
3
