Erdal PEKER, Hayrettin TEMEL, Ercan KIRIMİ, Avni KAYA, Oğuz TUNCER

Smith-Lemli-Opitz Sendromu Tip II: Vaka Sunumu

Smith-Lemli-Opitz sendromu otozomal resesif geçen, çok sayıda doğuştan bozukluğun eşlik ettiği ender görülen bir sendromdur. Tip II vakaları genellikle ölümcül seyirlidir ve yaşamın ilk günleri içinde kaybedilirler. Smith-Lemli-Opitz sendromu 7 dehidrokolesterol enzimindeki mutasyonlar sonucu gelişir ve 7 dehidrokolesterolden kolesterol oluşumunda yetersizlik meydana gelir. Bunun sonucunda 7 dehidrokolesterol birikir ve tipik olarak kolesterol eksikliği meydana çıkar. Bu makalede aralarında ikinci dereceden akrabalık bulunan ebeveynlerden, 31 haftalık 2,200 g, 45 cm, 32 cm ölçülerinde doğan ve tipik Smith-Lemli-Opitz Tip II Sendromu özellikleri saptanan vaka sunulmaktadır. Fizik muayenesinde mikrognati, her iki ayakta sindaktili, ellerde polidaktili, el parmaklarında ulnar deviasyon ve distalde fleksiyon kontraktürü, hipertelörizm, burun kökü basıklığı, antevert burun delikleri, inkomplet yarık damak, derin sakral gamze, kuşkulu genital yapı ve iki taraflı konjenital katarakt saptandı. İki taraflı konjenital katarakt SmithLemli-Opitz Tip II Sendromu hastalarda ender görülen bir bulgudur. Laboratuvar incelemesinde belirgin serum kolesterol düşüklüğü 67 mg/dL vardı. Barr kromatin incelemesi negatifti. Progressiv seyirli olarak kötüleşen hasta ilk gün içinde kaybedildi.

Anahtar Kelimeler:

Smith-Lemli-Opitz, kolesterol, kuşkulu genital yapı, katarakt

Smith-Lemli-Opitz Syndrome Type II And Rare Associated Finding of Cataract: A Case Report

Smith-Lemli-Opitz syndrome is a rare autosomal recessive disorder accompanied by multiple congenital malformations. Type II cases are highly fatal and die first days of life. Smith-Lemli-Opitz syndrome is caused by mutations of 7 dehydrocholesterol reductase that impair the reduction of 7-dehydrocholesterol to form cholesterol. This results in the accumulation of 7 dehydrocholesterol and typically a deficiency of cholesterol. Here, we present a Smith-Lemli-Opitz syndrome type II who is born 31 wk gestational age and 2200 gr, 45 cm, 32 cm dimensions and whose from parents they have second degree consanginous marriage. The physicial examination of case revealed syndactyly in both of feet, polydactly of hands, ulnar deviation and distal deviation of hand fingers, hypertelorism in face, flat nose, micrognatia, anteverted nares, incomplete cleft palate, deep sacral dimple, ambiguus genitalia and bilaterally congenital cataracts. A bilaterally congenital cataract is rare event in this syndrome. In laboratory examination, significant low serum cholesterol 67 mg/dL has been detected. Barr chromatin body was negative. The case revealed a badly progressive course in first day of life and died.

Keywords:

Smith-Lemli-Opitz, cholesterol, ambigus genitalia, cataract,

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