Case Report

A Nemaline Myopathy Presenting with Perinatal Asphyxia

10.1501/Tipfak_0000000902

  • Nisa Eda Çullas İlarslan
  • Dilek Dilli
  • Nihan Hilal Hoșağası
  • Beril Talim
  • Engin Demir
  • Ayșe Aksoy
  • Ayșegül Zenciroğlu
  • Nurullah Okumuș

Received Date: 09.06.2015 Accepted Date: 23.10.2015 J Ankara Univ Fac Med 2015;68(3):125-128

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.

Keywords: Asphyxia, Hypotonia, Nemaline Myopathy, Newborn