title: Sensory-motor hereditary neuropathy with early onset. A case report.
abstract: 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.
authors.affiliation: Istituto di Scienze Neurologiche, Università di Siena, Loretana, Toro.
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: N
authors.initials: N
authors.lastname: De Stefano
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: V
authors.initials: V
authors.lastname: Vecchione
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D000293:Adolescent; D001369:Axons / Q000648:ultrastructure; D001706:Biopsy; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000473:pathology* / Q000503:physiopathology*; D006801:Humans; D009186:Myelin Sheath / Q000648:ultrastructure