Abstract

The diagnosis of the hypotonia at the neonatal period is difficult. In the neonatal period, the differential must include acute illnesses and systemic diseases such as sepsis, congestive heart failure and inborn errors of metabolism. Congenital disorders that affect nervous system can be the reason of hypotonia. Nemaline myopathy (NM) is a rare congenital myopathy, characterized by slowly progressive or nonprogressive muscle weakness and the inclusions known as nemaline rods characterized by rod-shaped structures (nemaline bodies) on muscle biopsy and can be presented with hypotonia, feeding problems, repeated respiratory infections, and arthrogryposis. Also, agenesis of corpus callosum (ACC) can generate an inter-hemispheric disconnection and neurologic problems such as mental retardation, seizures can be seen. Unfortunately, there is no curative treatment for both of them. Here, we report an infant who was admitted with generalized muscle weakness at the neonatal period and diagnosed as ACC with NM.