Uluç Yiş, Gökhan Uyanık, Semra Hız Kurul, Handan Çakmakçı, Erdener Özer, Eray Dirik, Ute Hehr, Deborah J. Morris-Rosendahl

Konjenital müsküler distrofili hastalarımızın değerlendirilmesi Orijinal Araştırma

Amaç: Bu çalışmada konjenital müsküler distrofi tanısı ile izlenen hastalarımızın klinik ve radyolojik bulgularının değerlendirilmesi amaçlanmıştır Gereç ve Yöntem: Temmuz 2005 ve Temmuz 2008 arasında Dokuz Eylül Üniversitesi Tıp Fakültesi Çocuk Nöroloji Bilim Dalı’nda konjenital müsküler distrofi tanısı alan olguların dosya kayıtları geriye dönük olarak incelendi Bulgular: Çalışmaya alınan 13 hastanın yedisi 53 erkek altısı 47 kızdı Yedi hasta 53 alfa distroglikanopati beş hasta 38 kollajen VI ile ilişkili konjenital müsküler distrofi bir hasta 9 “rigid spine” sendromu grubunda yer almaktaydı Alfa distroglikanopati ve kollajen VI ile ilişkili konjenital müsküler distrofili hastaların ortalama yaşı sırasıyla 3 57±2 92 0 5 7 ve 10 83±5 67 1 16 yıldı Alfa distroglikanopati grubunda beş olguda 71 göz tutulumu altı olguda 85 merkezi sinir sistemi gelişimsel anomalisi vardı Olguların tümünde beyin sapı hipoplazisi altısında 85 beyincikte kistler vardı Kollajen VI ile ilişkili konjenital müsküler distrofi grubunda en sık başvuru yakınması motor gelişimde gerilik proksimal eklem kontraktürleri ve değişen derecelerde distal eklem hiperlaksisitesiydi “Rigid spine” sendromu tanısı alan hastada ise en önemli klinik bulgular ileri derecede skolyoz ve kas atrofisiydi Çıkarımlar: Konjenital müsküler distrofilerde klinik bulgular değişken olup ülkemizde tanı alan konjenital müsküler distrofili olguların artması değişik tiplerin görülme sıklığının saptanmasına olanak sağlayacaktır Türk Ped Arş 2009; 44: 23 8 Anahtar kelimeler: Alfa distroglikan kas atrofisi kollajen VI konjenital müsküler distrofi skolyoz

Anahtar Kelimeler:

Alfa distroglikan, kas atrofisi, kollajen VI, konjenital müsküler distrofi, skolyoz

Evaluation of cases with congenital muscular dystrophy Original Article

Aim: The aim of this study is to evaluate clinical and radiological features of our cases with congenital muscular dystrophy nbsp; nbsp; Material and Method: The data of cases who were diagnosed with congenital muscular dystrophy in the Division of Pediatric Neurology of Dokuz Eylül University School of Medicine between July 2005 and July 2008 were analysed retrospectively Results: A total of 13 cases were evaluated Among the 13 cases seven 53 were boys and six 47 were girls Seven patients 53 were in the alfa dystroglycanopathy group five patients 38 were in collagen VI related congenital muscular dystrophy group and one patient 9 was in “rigid spine” group The mean age of cases with alfa dystroglycanopathy and collagen VI related congenital muscular dystrophy were 3 57±2 92 0 5 7 and 10 83±5 67 1 16 years respectively In alfa dystroglycanopathy group five cases 71 had eye involvement and six cases 85 had developmental malformations of the central nervous system All cases had brainstem hypoplasia and six cases 85 had cerebellar cysts In collagen VI related congenital muscular dystrophy group the main complaints were retardation in motor mile stones nbsp; contractures in proximal joints and hyperlaxicity in distal joints The most important clinical features in the case diagnosed with “rigid spine” syndrome were severe scoliosis and muscle atrophy Conclusions: The clinical features of congenital muscular dystrophies are heterogenous and increase in number of cases diagnosed as congenital muscular dystrophy should give an opportunity to determine the incidence of different types of congenital muscular dystrophies in our country nbsp; Turk Arch Ped 2009; 44: 23 8 Key words: Alfa dystroglycan collagen VI congenital muscular dystrophy muscle atrophy scoliosis

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