NEUROPATIA IPOMIELINIZZANTE CONGENITA: PRESENTAZIONE DI UN CASO CLINICO

Translated title of the contribution: Congenital hypomyelination polyneuropathy: A case report

M. E. Celle, O. Bellagamba, E. Veneselli, A. Buoncompagni, L. Doria Lamba, M. Di Rocco

Research output: Contribution to journalArticle

Abstract

Congenital hypomyelination neuropathy (CHN) is characterized by congenital or early onset, marked reduction in the conduction velocities and, on histologically viewpoint, totally absent or severely reduced myelin with atypical onion bulbs essentially composed of double layered Schwann cell basal membrane without myelin (Lyon type). Such disease is transmitted in an autosomal recessive manner. We report the case of a 5 year-old boy affected by inherited sensory-motor neuropathy with early onset, severely low conduction velocities and morphological features on sural nerve consistent with the diagnosis of CHN. Whether such disease represents a distinct entity is discussed.

Original languageItalian
Pages (from-to)114-117
Number of pages4
JournalRivista Italiana di Pediatria
Volume21
Issue number1
Publication statusPublished - 1995

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Celle, M. E., Bellagamba, O., Veneselli, E., Buoncompagni, A., Doria Lamba, L., & Di Rocco, M. (1995). NEUROPATIA IPOMIELINIZZANTE CONGENITA: PRESENTAZIONE DI UN CASO CLINICO. Rivista Italiana di Pediatria, 21(1), 114-117.