Seyrek Görülen Bir Konjenital Hipotoni Vakası: Walker Warburg Sendromu

Yıl 2019, Cilt: 50 Sayı: 3, 159 - 161, 15.09.2019

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https://doi.org/10.16948/zktipb.455091

Cited By: 1

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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