Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy.
A 15-year-old boy presented with progressive pyramidal and extrapyramidal signs, anterior horn cell dysfunction, and behavioral disturbances suggesting a diagnosis of neuronal intranuclear inclusion disease. The diagnosis was confirmed by examination of a rectal biopsy specimen that showed typical intranuclear inclusions in the neurons of the myenteric plexus. Diagnosis of neuronal intranuclear inclusion disease during life appears to be possible.
Départment de Pédiatrie et INSERM, Hôpital des Enfants Malades, Paris, France.
F
F
Goutières
J
J
Mikol
J
J
Aicardi
D000293:Adolescent; D001706:Biopsy; D002493:Central Nervous System Diseases / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008297:Male; D009474:Neurons / Q000473:pathology*; D012007:Rectum / Q000473:pathology*