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[Hypertrophic neuropathies beginning in infancy: a study of 3 cases (author's transl)].
Riv Patol Nerv Ment. 1982 May-Jun; 102(3):115-26.RP

Abstract

The genetical forms of hypertrophic neuropathies, inherited either as recessive or autosomal dominant trait, are classified, according to Dyck (1975), as HMSN type I, III, and IV. Sporadic cases are also reported. We studied three patients, one with autosomal recessive inheritance, and two without family history, who had the following common features: --onset of symptoms before the age to two years; --slowly progressive course; --peroneal muscular atrophy with absent tendon reflexes; --reduction of MCV and SCV; --decreased number of myelinated fibers; --schwannian cell hyperplasia, with onion bulb complexes formation; --absence of aspects of hypomyelination; --increased number of collagen pockets and denervated Schwann-Remak cells or processes. On light microscopy, multilamellated onion bulbs of large size were found in a very high percentage in case 1, while there were either simple in type or in a lower percentage in case 2. In the third, case, onion bulbs were recognized only on electron microscopy. It is known that in the various kinships affected with type I of HMSN, the pathological changes of peripheral nerves differ greatly. Therefore, despite early onset of symptoms and varying degree of severity of nerve changes, all three cases have been classified within the group of HMSN type I. The different severity of nerve damage may suggest the possibility of a genetical heterogeneity in this disorder.

Authors

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Pub Type(s)

English Abstract
Journal Article

Language

ita

PubMed ID

6287564

Citation

Monaco, S, et al. "[Hypertrophic Neuropathies Beginning in Infancy: a Study of 3 Cases (author's Transl)]." Rivista Di Patologia Nervosa E Mentale, vol. 102, no. 3, 1982, pp. 115-26.
Monaco S, Moretto G, Pinelli L, et al. [Hypertrophic neuropathies beginning in infancy: a study of 3 cases (author's transl)]. Riv Patol Nerv Ment. 1982;102(3):115-26.
Monaco, S., Moretto, G., Pinelli, L., & Rizzuto, N. (1982). [Hypertrophic neuropathies beginning in infancy: a study of 3 cases (author's transl)]. Rivista Di Patologia Nervosa E Mentale, 102(3), 115-26.
Monaco S, et al. [Hypertrophic Neuropathies Beginning in Infancy: a Study of 3 Cases (author's Transl)]. Riv Patol Nerv Ment. 1982 May-Jun;102(3):115-26. PubMed PMID: 6287564.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Hypertrophic neuropathies beginning in infancy: a study of 3 cases (author's transl)]. AU - Monaco,S, AU - Moretto,G, AU - Pinelli,L, AU - Rizzuto,N, PY - 1982/5/1/pubmed PY - 1982/5/1/medline PY - 1982/5/1/entrez SP - 115 EP - 26 JF - Rivista di patologia nervosa e mentale JO - Riv Patol Nerv Ment VL - 102 IS - 3 N2 - The genetical forms of hypertrophic neuropathies, inherited either as recessive or autosomal dominant trait, are classified, according to Dyck (1975), as HMSN type I, III, and IV. Sporadic cases are also reported. We studied three patients, one with autosomal recessive inheritance, and two without family history, who had the following common features: --onset of symptoms before the age to two years; --slowly progressive course; --peroneal muscular atrophy with absent tendon reflexes; --reduction of MCV and SCV; --decreased number of myelinated fibers; --schwannian cell hyperplasia, with onion bulb complexes formation; --absence of aspects of hypomyelination; --increased number of collagen pockets and denervated Schwann-Remak cells or processes. On light microscopy, multilamellated onion bulbs of large size were found in a very high percentage in case 1, while there were either simple in type or in a lower percentage in case 2. In the third, case, onion bulbs were recognized only on electron microscopy. It is known that in the various kinships affected with type I of HMSN, the pathological changes of peripheral nerves differ greatly. Therefore, despite early onset of symptoms and varying degree of severity of nerve changes, all three cases have been classified within the group of HMSN type I. The different severity of nerve damage may suggest the possibility of a genetical heterogeneity in this disorder. SN - 0035-6433 UR - https://www.unboundmedicine.com/medline/citation/6287564/[Hypertrophic_neuropathies_beginning_in_infancy:_a_study_of_3_cases__author's_transl_]_ L2 - https://medlineplus.gov/peripheralnervedisorders.html DB - PRIME DP - Unbound Medicine ER -