Nemoline myopathy in a newborn infant: a rare muscle disorder

作者：Olukman Ozgur^*; Calkavur Sebnem; Diniz Gulden; Unalp Aycan; Atlihan Fusun

来源：Neurologia i Neurochirurgia Polska, 2013, 47(5): 493-498.

DOI：10.5114/ninp.2013.38229

• congenital
• myopathy
• nemaline body
• floppy
• infant

Nemaline myopathy (NM) is a genetically and clinically heterogeneous muscle disorder, defined by the presence of characteristic nemaline bodies on muscle biopsy. The disease has a wide spectrum of phenotypes, ranging from forms with neonatal onset and fatal outcome to asymptomatic forms. The neonatal form is severe and usually fatal. The clinical variability, with differing age of onset and severity of symptoms makes the diagnosis difficult during infancy. There is no curative treatment. L-tyrosine may prevent aspiration by reducing pharyngeal secretions and drooling. Most of the patients die from respiratory and cardiac failure.
This article discusses a newborn infant who presented with generalized weakness and respiratory failure. Partial response to L-tyrosine treatment was noted. The case is worth presenting to remind clinicians of congenital myopathies in the differential diagnosis of floppy infant during neonatal period and to emphasize the importance of muscle biopsy in diagnosis.

• 出版日期2013-10