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 contribution||On one case of infantile neuroaxonal dystrophy (Seitelberger's disease)|
|Number of pages||6|
|Publication status||Published - 1977|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health