Un cas de dystrophie neuroaxonale infantile ou maladie de Seitelberger

This paper deals with the first ultrastructural study of muscle fiber in a child affected by infantile neuroaxonal dystrophy or Seitelberger's disease. In a first step, diagnosis was performed by light and electron microscopy in biopsy and autopsy findings in central and peripheral nervous system. Muscle fiber and axonal changes are very similar. The ultrastructure findings in muscle fiber are as follows: 1. neural atrophy, 2. overproduction of membrano-tubular structures related to sarcoplasmic reticulum hyperplasia, 3. filamentous aggregates by presumed overproduction of myofilaments, 4. overproduction of abnormal mitochondria. These changes, already described in various muscular diseases, are not specific; they seem related to an abnormal muscle fiber reaction in close association to dystrophic axonal endings.