[Early myoclonic encephalopathy and spinal muscular atrophy type I].
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.
D001921:Brain / Q000503:physiopathology*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002895:Chromosomes, Human, Pair 5; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000150:complications* / Q000503:physiopathology*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications* / Q000175:diagnosis*
Encefalopatia mioclonica precoce ed atrofia muscolare spinale tipo I.