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[Congenital neuropathy caused by hypomyelination].
Arch Fr Pediatr. 1983 Aug-Sep; 40(7):557-60.AF

Abstract

A 9 year-old girl with congenital hypomyelination neuropathy is reported. Clinical features were delayed motor development, disturbances of gait, deep sensory defect, areflexia and mild distal palsy with claw feet. E.M.G. revealed dramatically diminished motor conduction velocities. C.S.F. protein was normal. Histological examination of the right sural nerve revealed a severe loss of myelinated fibers. On electron microscopy, poorly myelinated and large amyelinated axons were enclosed by normal Schwann cells and surrounded by multiple single or double layered basement membranes which were concentrically arranged in an onion bulb pattern. This case of congenital hypomyelination neuropathy is compared with ten similar cases in the literature.

Authors

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Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

6314923

Citation

Pagès, M, et al. "[Congenital Neuropathy Caused By Hypomyelination]." Archives Francaises De Pediatrie, vol. 40, no. 7, 1983, pp. 557-60.
Pagès M, Voisin M, Echenne B, et al. [Congenital neuropathy caused by hypomyelination]. Arch Fr Pediatr. 1983;40(7):557-60.
Pagès, M., Voisin, M., Echenne, B., Pagés, A. M., Dumas, R., & Jean, R. (1983). [Congenital neuropathy caused by hypomyelination]. Archives Francaises De Pediatrie, 40(7), 557-60.
Pagès M, et al. [Congenital Neuropathy Caused By Hypomyelination]. Arch Fr Pediatr. 1983 Aug-Sep;40(7):557-60. PubMed PMID: 6314923.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Congenital neuropathy caused by hypomyelination]. AU - Pagès,M, AU - Voisin,M, AU - Echenne,B, AU - Pagés,A M, AU - Dumas,R, AU - Jean,R, PY - 1983/8/1/pubmed PY - 1983/8/1/medline PY - 1983/8/1/entrez SP - 557 EP - 60 JF - Archives francaises de pediatrie JO - Arch. Fr. Pediatr. VL - 40 IS - 7 N2 - A 9 year-old girl with congenital hypomyelination neuropathy is reported. Clinical features were delayed motor development, disturbances of gait, deep sensory defect, areflexia and mild distal palsy with claw feet. E.M.G. revealed dramatically diminished motor conduction velocities. C.S.F. protein was normal. Histological examination of the right sural nerve revealed a severe loss of myelinated fibers. On electron microscopy, poorly myelinated and large amyelinated axons were enclosed by normal Schwann cells and surrounded by multiple single or double layered basement membranes which were concentrically arranged in an onion bulb pattern. This case of congenital hypomyelination neuropathy is compared with ten similar cases in the literature. SN - 0003-9764 UR - https://www.unboundmedicine.com/medline/citation/6314923/[Congenital_neuropathy_caused_by_hypomyelination]_ L2 - http://www.diseaseinfosearch.org/result/2186 DB - PRIME DP - Unbound Medicine ER -