CONGENITAL HYPOMYELINATING NEUROPATHY IN A NEWBORN: A CASE REPORT

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BARZEGAR MOHAMMAD; MAHALLEI MAJID; HOSSEINI MOHAMMAD BAGHER

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Journal: Researcher Bulletin of Medical Sciences Year:2011 | Volume:16 | Issue:3 (81) Page(s): 144-146

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Title

CONGENITAL HYPOMYELINATING NEUROPATHY IN A NEWBORN: A CASE REPORT

Author(s)

BARZEGAR MOHAMMAD | MAHALLEI MAJID | HOSSEINI MOHAMMAD BAGHER | Issue Writer Certificate

Keywords

CONGENITAL NEUROPATHYQ2

HYPOMYELINATIONQ2

HYPOTONIAQ3

INFANTQ2

NEWBORNQ2

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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APA: Copy

BARZEGAR, MOHAMMAD, MAHALLEI, MAJID, & HOSSEINI, MOHAMMAD BAGHER. (2011). CONGENITAL HYPOMYELINATING NEUROPATHY IN A NEWBORN: A CASE REPORT. RESEARCHER BULLETIN OF MEDICAL SCIENCES (PEJOUHANDEH), 16(3 (81)), 144-146. SID. https://sid.ir/paper/18439/en

Vancouver: Copy

BARZEGAR MOHAMMAD, MAHALLEI MAJID, HOSSEINI MOHAMMAD BAGHER. CONGENITAL HYPOMYELINATING NEUROPATHY IN A NEWBORN: A CASE REPORT. RESEARCHER BULLETIN OF MEDICAL SCIENCES (PEJOUHANDEH)[Internet]. 2011;16(3 (81)):144-146. Available from: https://sid.ir/paper/18439/en

IEEE: Copy

MOHAMMAD BARZEGAR, MAJID MAHALLEI, and MOHAMMAD BAGHER HOSSEINI, “CONGENITAL HYPOMYELINATING NEUROPATHY IN A NEWBORN: A CASE REPORT,” RESEARCHER BULLETIN OF MEDICAL SCIENCES (PEJOUHANDEH), vol. 16, no. 3 (81), pp. 144–146, 2011, [Online]. Available: https://sid.ir/paper/18439/en

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