Coincidence of Nemaline Myopathy and Agenesis of Corpus Callosum in a Newborn Infant: Case Report
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Date
2019
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Abstract
The diagnosis of the hypotonia during neonatal period is difficult. In the neonatal period, acute illnessesand systemic diseases such as sepsis, congestive heart failure and inborn errors of metabolism should beconsidered in the differential diagnosis of the patients. Congenital disorders that affect nervous systemcan be the reason of hypotonia. Nemaline myopathy (NM) is a rare congenital myopathy, characterizedwith slowly progressive or nonprogressive muscle weakness and the inclusions known as nemaline rodscharacterized by rod-shaped structures (nemaline bodies) in muscle biopsy specimens. The disease can bepresented with hypotonia, feeding problems, repeated respiratory infections, and arthrogryposis. Also,agenesis of corpus callosum (ACC) can result in an interhemispheric disconnection , neurologic problemssuch as mental retardation, and seizures. Unfortunately, there is no curative treatment for both of them.Herein, we report an infant who was admitted with generalized muscle weakness at the neonatal periodand diagnosed as ACC with NM.