:: Volume 16, Issue 3 (July& August 2011 2011) ::
pajoohande 2011, 16(3): 144-146 Back to browse issues page
Congenital hypomyelinating neuropathy in a newborn: a case report
Mohammad Barzegar *, Majid Mahallei, Mohammad Bagher Hosseini
Professor, Pediatric Neurology Department, Pediatric Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran , mm_barzegar@yahoo.com
Abstract:   (8931 Views)
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.
Keywords: Congenital Neuropathy, Hypomyelination, Hypotonia, Infant, Newborn
Full-Text [PDF 78 kb]   (2808 Downloads)    
Type of Study: Original | Subject: Medicine
Received: 2017 | Accepted: 2017 | Published: 2017


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Volume 16, Issue 3 (July& August 2011 2011) Back to browse issues page