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Neuronal Intranuclear Inclusion Disease in a Child:Diagnosis by Rectal Biopsy Ann Neurol 27:103-106, Goutieres,F.,et al, 1990 See this aricle in Pubmed Article 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 neutrons of the myenteric plexus.Diagnosis of neuronal intranuclear inclusion disease during life appears to be possible.

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