Perinatal Asfiksi lle Prezente Olan Nemalin Miyopatisi

Abstract

Nemaline myopathy is a rare hereditary neuromuscular disease characterized by variable degree of non-progressive or slowly progressive generalized muscle weakness. Clinical features are mostly related with muscle weakness and hypotonia. Patients may present with birth asphyxia as a result of severe hypotonia. Respiratory insufficiency and feeding difficulty develop eventually in the majority of cases. Narrow and elongated face, high arched palate, pectus excavatum, scoliosis, foot deformities, and joint contractures may also be present. Definite diagnosis of Nemaline myopathy is possible by a muscle biopsy in which modified Gomori-trichrome stain indicates the presence of purple-red colored rod-like structures called “nemaline bodies” in the muscle fibers. Here a newborn who presented with birth asphyxia and diagnosed as nemaline myopathy with muscle biopsy is reported and discussed in the light of literature

Keywords

• Asphyxia
• Hypotonia
• Nemaline Myopathy
• Newborn.

Perinatal Asfiksi İle Prezente Olan Nemalin Miyopatisi

Abstract

Nemalin miyopatisi değișik derecelerde ve genellikle ilerleyici olmayan veya yavaș ilerleyici kas güçsüzlüğü ile karakterize, nadir görülen herediter bir nöromusküler hastalıktır. Klinik bulgular esas olarak yaygın kas güçsüzlüğü ve hipotoni ile ilișkilidir. Hastalar ağır hipotoni nedeniyle asfiktik doğabilir. Hemen tamamında zamanla solunum ve beslenme yetersizliği gelișir. Uzun ince yüz görünümü, yüksek damak, pektus ekskavatum, skolyoz, ayak deformiteleri ve eklem kontraktürleri gibi bulgular tabloya eșlik edebilir. Kesin tanı kas biyopsisinde Gomori trikrom boyasıyla kas liflerinde kırmızı-mor “çubuk” benzeri nemalin cisimciklerinin saptanmasıyla konulur. Bu yazıda perinatal asfiksi ile prezente olan ve kas biyopsisi ile nemalin miyopatisi tanısı alan bir yenidoğan olgu literatür bilgileri ıșığında sunuldu.

Keywords

• Asfiksi
• Hipotoni
• Nemalin Miyopatisi
• Yenidoğan

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