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Showing 1 results for Congenital Neuropathy

Mohammad Barzegar, Majid Mahallei, Mohammad Bagher Hosseini,
Volume 16, Issue 3 (8-2011)
Abstract

Congenital hypomyelinating neuropathy (CHN) is a rare severe polyneuropathy of neonates presenting with hypotonia, areflexia and severe muscular weakness leading to early mortality or profound morbidity. Here, we report a case of this disease presenting at birth with severe hypotonia, weak respiratory effort and ventilator dependency. Electrodiagnostic study showed severe nerve conduction velocity delay sural nerve biopsy demonstrated nerve bandles without any myelin. These finding are compatible with congenital hypomyelinating neuropathy. Thus, CHN should be considered in differential diagnosis of severe neonatal hypotonia.

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