Seyrek Görülen Bir Konjenital Hipotoni Vakası: Walker Warburg Sendromu

Öz

Konjenital muskuler distrofiler (KMD) nadir görülen, infant döneminde kas güçsüzlüğü ve motor gelişimde gecikme ile kendini gösteren bir grup hastalıktır. Bunların en ağır formlarından biri Walker Warburg Sendromu (WWS)' dur. WWS otozomal resesif geçişli, beyin ve göz anomalilerinin eşlik ettiği bir hastalıktır. Beyinde tip 2 lizensefali, beyaz cevherde hipomyelinizasyon, hidrosefali, korpus kallosum agenezisi, gözde katarakt, optik sinir displazisi, retinal displazi, lens defektleri görülür. Destek tedavisi verilse de oldukça mortal seyreder, ortalama yaşam ömrü dört ay civarındadır. Burada, klinik ve görüntüleme yöntemleriyle WWS düşünülen, kas biyopsisinde alfa distroglikan eksikliği görülerek tanısı desteklenen bir olgu sunulmuştur.

Anahtar Kelimeler

• hipotonik infant,muskuler distrofi,walker walburg

A Rare Case of Congenital Hypotonia: Walker Warburg Syndrome

Öz

Congenital muscular dystrophies are a group of rarely seen muscle diseases. They are recognized with muscle weakness and motor delay on infancy. The most severe form of is Walker Warburg Syndrome (WWS). WWS is a rarely seen autosomal recessive inherited disease with serebral and eye abnormalities. Type 2 lissencephaly, hypomyelination in white matter, hydrocephalus, corpus callosum agenesis are pathological findings of brain; also cataract, optic nerve dysplasia, retinal dysplasia, lens defects can be detected on eyes. Even with pallative care is given, median survival age is about four months. In this case we suspected WWS with clinical and radiological findings, and performed a muscle biopsy which is shown alpha dystroglycan deficiency.

Anahtar Kelimeler

• hypotonic infant,muscular dystrophy,walker walburg

Kaynakça

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