Congenital hypomyelinating neuropathy in a newborn: a case report

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.