Asuman KIRAL, Berrin Ergin YILMAZER, Zeynep ZARA, Pınar İŞGÜVEN

Nadir Görülen Bir Hipotoni Olgusu: Walker-Warburg Sendromu

Walker-Warburg sendromu (WWS), otozomal resesif geçişli (OR) tip 2 lizensefali, serebellar anomali, retinal anomali ve konjenital musküler distrofinin birlikte görülebildiği ve olguların en geç üç yaşında kaybedildiği oldukça nadir görülen bir hastalıktır. Bu makalede aralarında 1. derece akraba evliliği olan anne ve babadan doğan, emme zayıflığı şikayetiyle hastanemize getirilen, yapılan fizik muayene ve laboratuvar tetkikleri sonucu ağır hipotoni, atipik yüz görünümü, gözlerde ve beyinde anormallikler, çok yüksek serum kreatin fosfokinaz düzeyi ile Walker-Warburg sendromu tanısı konulan bir olgu anlatılmaktadır. Bu olgunun sunulmasındaki amaç, yenidoğan döneminde hipotonik infant ayırıcı tanısında yer alan nadir görülen bu kas hastalığına dikkat çekmek ve OR geçişli, letal bir hastalık olması sebebiyle aileye verilecek genetik danışmanın önemini vurgulamaktır.

Anahtar Kelimeler:

Hipotoni, Konjenital, Musküler distrofi, Walker-Warburg

Walker-Warburg Syndrome as a Rare Cause of Hypotonia

The Walker-Warburg syndrome is an autosomal recessive disease characterized by type 2 lissencephaly, cerebellar malformations, retinal abnormalities and congenital muscular dystrophy with most children dying before the age of three.In this report, we represent a patient diagnosed as Walker-Warburg syndrome with feeding difficulty, generalized hypotonia, facial dysmorphic features, eye and brain abnormalities and also elevated creatine kinase level. The parents were first degree relatives. The diagnosis of this rare disease is important in hypotonic infants for genetic counseling of families, as it is lethal and inherited in an autosomal recessive manner

Keywords:

Hypotonia, Congenital, Muscular dystrophy, Walker-Warburg,

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