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.
Goutières
F
F
Départment de Pédiatrie et INSERM, Hôpital des Enfants Malades, Paris, France.
Mikol
J
J
Aicardi
J
J
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*