AICARDI SYNDROME - A MORPHOLOGIC DESCRIPTION WITH PARTICULAR REFERENCE TO INTRACYTOPLASMIC INCLUSIONS IN CORTICAL ASTROCYTES

Aicardi syndrome is characterized by agenesis of the corpus callosum, infantile spasms, and ocular anomalies. Very few morphologic descripti ons have been made of the central nervous system of children with this syndrome. We performed a postmortem examination of the brain of a 13- year-old girl with clinically well-documented Aicardi syndrome. Cross examination revealed a small brain (745 g) with the right cerebral and cerebellar hemispheres smaller than the left. There was agenesis of t he corpus callosum, and ectopic gray matter was scattered throughout t he cerebral hemispheres. Both choroid plexus and arachnoid cysts were present. Microscopic examination revealed indistinct cortical layering and multiple foci of ectopic gray matter The cerebellar sections were altered by focal atrophy with gliosis and Purkinje cell dropout. Mult iple sections of cerebrum contained astrocytes with coarse, paranuclea r, eosinophilic inclusions. Electron microscopy, immunohistochemistry, and special stains further defined these inclusions, which we specula te represent a degenerative process.