Engin DEMİR, Ayşe AKSOY, Ayşegül ZENCİROĞLU, Dilek DİLLİ, Beril TALİM, Nurullah OKUMUŞ, Nihan Hilal HOŞAĞASI, Nisa Eda ÇULLAS İLARSLANL

A Nemaline Myopathy Presenting with Perinatal Asphyxia

Nemalin miyopatisi de?iLik derecelerde ve genellikle ilerleyici olmayan veya yavaL ilerleyici kas güç- süzlü?ü ile karakterize, nadir görülen herediter bir nöromusküler hastalÖktÖr. Klinik bulgular esas ola- rak yaygÖn kas güçsüzlü?ü ve hipotoni ile iliLkilidir. Hastalar a?Ör hipotoni nedeniyle asfiktik do?abilir. Hemen tamamÖnda zamanla solunum ve beslenme yetersizli?i geliLir. Uzun ince yüz görünümü, yüksek damak, pektus ekskavatum, skolyoz, ayak deformiteleri ve eklem kontraktürleri gibi bulgular tabloya eLlik edebilir. Kesin tanÖ kas biyopsisinde Gomori trikromboyasÖyla kas liflerinde kÖrmÖzÖ-mor "çubuk" benzeri nemalin cisimciklerinin saptanmasÖyla konulur. Bu yazÖda perinatal asfiksi ile prezen- te olan ve kas biyopsisi ile nemalin miyopatisi tanÖsÖ alan bir yenido?an olgu literatür bilgileri ÖLÖ?Önda sunuldu.

Perinatal Asfiksi gle Prezente Olan Nemalin Miyopatisi

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 deformi- ties, 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 pre- sented with birth asphyxia and diagnosed as nemaline myopathy with muscle biopsy is reported and discussed in the light of literature.

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