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Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy
F Goutières1, J Mikol, J Aicardi
1Départment de Pédiatrie et INSERM, Hôpital des Enfants Malades, Paris, France.
Annals of Neurology
|January 1, 1990
Abstract:
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.