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Congenital hypomyelinating neuropathy in a newborn: a case report
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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 |
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Abstract: (9890 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. |
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| Keywords: Congenital Neuropathy, Hypomyelination, Hypotonia, Infant, Newborn |
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Full-Text [PDF 78 kb]
(4215 Downloads)
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Type of Study: Original |
Subject:
Medicine
Received: 2017 | Accepted: 2017 | Published: 2017
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