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Muscle and intramuscular nerve pathology in congenital hypomyelination neuropathy.
J Neurol Sci. 1995 Apr; 129(2):170-4.JN

Abstract

Two patients had delayed development and generalized muscle hypotonia and weakness since early infancy. Their muscle biopsies showed slight variation in fiber size without group atrophy, and no clear evidence of an active demyelinating process in the intramuscular nerves. The most striking finding by light microscopy was the absence of myelinated fibers in the intramuscular nerve bundles. Ultrastructurally, the axons were devoid of myelin sheath or had very thin myelin sheaths, and the axons were surrounded by multilayered basal lamina forming an atypical onion bulb with no suggestions of myelin destruction. A sural nerve biopsy from one of the patients showed similar findings. Unlike the Déjèrine-Sottas type of hereditary motor and sensory neuropathy, there was no evidence of demyelination and remyelination in the muscle pathology, suggesting that the poor myelination in congenital hypomyelination neuropathy is due to a true "hypo"-myelination and not the result of demyelination.

Authors+Show Affiliations

Division of Neurology, Saitama Children's Medical Center, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7608732

Citation

Nara, T, et al. "Muscle and Intramuscular Nerve Pathology in Congenital Hypomyelination Neuropathy." Journal of the Neurological Sciences, vol. 129, no. 2, 1995, pp. 170-4.
Nara T, Akashi M, Nonaka I, et al. Muscle and intramuscular nerve pathology in congenital hypomyelination neuropathy. J Neurol Sci. 1995;129(2):170-4.
Nara, T., Akashi, M., Nonaka, I., Nakanishi, Y., Hamano, S., Ochiai, Y., & Tsuzura, S. (1995). Muscle and intramuscular nerve pathology in congenital hypomyelination neuropathy. Journal of the Neurological Sciences, 129(2), 170-4.
Nara T, et al. Muscle and Intramuscular Nerve Pathology in Congenital Hypomyelination Neuropathy. J Neurol Sci. 1995;129(2):170-4. PubMed PMID: 7608732.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Muscle and intramuscular nerve pathology in congenital hypomyelination neuropathy. AU - Nara,T, AU - Akashi,M, AU - Nonaka,I, AU - Nakanishi,Y, AU - Hamano,S, AU - Ochiai,Y, AU - Tsuzura,S, PY - 1995/4/1/pubmed PY - 1995/4/1/medline PY - 1995/4/1/entrez SP - 170 EP - 4 JF - Journal of the neurological sciences JO - J. Neurol. Sci. VL - 129 IS - 2 N2 - Two patients had delayed development and generalized muscle hypotonia and weakness since early infancy. Their muscle biopsies showed slight variation in fiber size without group atrophy, and no clear evidence of an active demyelinating process in the intramuscular nerves. The most striking finding by light microscopy was the absence of myelinated fibers in the intramuscular nerve bundles. Ultrastructurally, the axons were devoid of myelin sheath or had very thin myelin sheaths, and the axons were surrounded by multilayered basal lamina forming an atypical onion bulb with no suggestions of myelin destruction. A sural nerve biopsy from one of the patients showed similar findings. Unlike the Déjèrine-Sottas type of hereditary motor and sensory neuropathy, there was no evidence of demyelination and remyelination in the muscle pathology, suggesting that the poor myelination in congenital hypomyelination neuropathy is due to a true "hypo"-myelination and not the result of demyelination. SN - 0022-510X UR - https://www.unboundmedicine.com/medline/citation/7608732/Muscle_and_intramuscular_nerve_pathology_in_congenital_hypomyelination_neuropathy_ L2 - https://linkinghub.elsevier.com/retrieve/pii/0022510X9400272P DB - PRIME DP - Unbound Medicine ER -