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  • Title: Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy.
    Author: Goutières F, Mikol J, Aicardi J.
    Journal: Ann Neurol; 1990 Jan; 27(1):103-6. PubMed ID: 2405768.
    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.
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