GENERALIZED NUCLEAR AND CYTOPLASMIC INCLUSION DISEASE - A RARE CASE INVESTIGATED BY MICROSCOPY AND IMMUNOHISTOCHEMISTRY

A Caucasian female who was noted to be mildly microcephalic at birth w as diagnosed as having cerebral palsy at the age of 1 year. Her develo pment was delayed and she never walked or talked. She appeared relativ ely stable neurologically until the age of 17 years when she had an il lness with fever thought to be due to a virus. She was noted to deteri orate from this time on until her death at the age of 19 years. Autops y revealed intranuclear and cytoplasmic inclusions widespread througho ut the brain and visceral organs. There was no evidence of inflammatio n. Immunohistochemistry revealed strong immunoreactivity for tan prote in and neurofilament protein. Electron microscopy revealed the inclusi ons to be composed of homogeneous finely granular material. Scattered within the granular material in the cytoplasmic bodies were crystallin e structures with a honeycomb appearance. The possibility of these cha nges representing an old viral infection or a primary metabolic disord er are discussed.