SU DI UN CASO DI DISTROFIA NEUROASSONALE INFANTILE (MALATTIA DI SEITELBERGER)

Translated title of the contribution: On one case of infantile neuroaxonal dystrophy (Seitelberger's disease)

E. Veneselli, A. Pessagno, M. Chessa, M. De Negri

Research output: Contribution to journalArticle

Abstract

INAD (Infantile Neuroaxonal Dystrophy) is a rare heredo-degenerative disease with onset in early infancy (after a period of latency), clinically characterized by progressive impairment of peripheral motor neurons and mental deterioration with cerebral and pyramidal signs and optic nerve atrophy. The authors describe one case showing precisely this clinical picture, in which the tentative diagnosis, corroborated by electromyographic evidence of peripheral neurogenic lesion and by the elicitation of evoked sensorial potentials indicative of axonal distress, was finally confirmed by the demonstration of the typical axonal spheroid bodies in biopsy specimens.

Translated title of the contributionOn one case of infantile neuroaxonal dystrophy (Seitelberger's disease)
Original languageItalian
Pages (from-to)77-82
Number of pages6
JournalGaslini
Volume9
Issue number1
Publication statusPublished - 1977

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Veneselli, E., Pessagno, A., Chessa, M., & De Negri, M. (1977). SU DI UN CASO DI DISTROFIA NEUROASSONALE INFANTILE (MALATTIA DI SEITELBERGER). Gaslini, 9(1), 77-82.