NEURONAL INTRANUCLEAR HYALINE INCLUSION DISEASE WITH PROGRESSIVE CEREBELLAR-ATAXIA

Neuronal intranuclear hyaline inclusion disease is a progressive, fata l neurologic condition characterized by eosinophilic inclusions in neu rons of the central, autonomic, and peripheral nervous systems. The cl inical and pathologic findings of a 4-year-old boy who presented with a rapidly progressive cerebellar ataxia and seizure disorder that had begun 2 years earlier are described. Although intraneuronal inclusions were identified in neurons of cortex, basal ganglia, brainstem, cereb ellum, and spinal cord, clinical signs were restricted to cerebellar a taxia, internuclear ophthalmoplegia, and cognitive delay. Predominant cerebellar atrophy, early age of onset, and short clinical course dist inguishes it from previously reported patients.