| Sensory-motor hereditary neuropathy with early onset. A case report. | |
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MedLine Citation:
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PMID: 8328327 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The early onset sensory motor hereditary neuropathy (HSMN) can be divided into two forms: the early onset type (HSMN type III or Dejerine-Sottas) and the congenital hypomyelinating neuropathy (CHN). In both cases, abnormalities of myelination are present in peripheral nerves. Symptoms include hypotonia, weakness, hypotrophy, and areflexia. Skeletal changes may be present. In CHN symptoms may be present at birth and are rapidly progressive. Many authors actually consider the two forms different. The diagnosis is based only on clinical and neuropathological criteria. Here we report a case with a typical phenotype of HSMN type III but with peripheral nerve bioptic findings suggesting a CHN. |
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Authors:
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A Malandrini; N De Stefano; M T Dotti; V Vecchione; A Federico |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Acta neurologica Volume: 15 ISSN: 0001-6276 ISO Abbreviation: Acta Neurol (Napoli) Publication Date: 1993 Apr |
Date Detail:
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Created Date: 1993-08-10 Completed Date: 1993-08-10 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 0421100 Medline TA: Acta Neurol (Napoli) Country: ITALY |
Other Details:
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Languages: eng Pagination: 81-6 Citation Subset: IM |
Affiliation:
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Istituto di Scienze Neurologiche, Università di Siena, Loretana, Toro. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Axons / ultrastructure Biopsy Female Hereditary Sensory and Motor Neuropathy / pathology*, physiopathology* Humans Myelin Sheath / ultrastructure |
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