[Early myoclonic encephalopathy and spinal muscular atrophy type I]

Minerva Pediatr. 1995 Jun;47(6):233-8.
[Article in Italian]

Abstract

The authors describe the case of a floppy baby with the typical features of early myoclonic encephalopathy, represented by erratic and partial myoclonus of early onset and electroencephalographical suppression-burst pattern. Muscle biopsy made it possible to recognize an important neurogenic pattern, suggesting a severe form of spinal muscular atrophy. The association of these two disorders has never been reported.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Brain / physiopathology*
  • Chromosome Aberrations
  • Chromosome Disorders
  • Chromosomes, Human, Pair 5
  • Electroencephalography
  • Epilepsies, Myoclonic / complications*
  • Epilepsies, Myoclonic / physiopathology*
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Spinal Muscular Atrophies of Childhood / complications*
  • Spinal Muscular Atrophies of Childhood / diagnosis*