AlCARDI's SYNDROME - REPORT OF AN AUTOPSY CASE

Abstract

A Japanese girl aged 19 months had generalized convulsions, agenesis of the corpus callosum, peculiar chorioretinopathy, scoliosis and marked retardation of psychomotor development. Pathological investigation revealed polymicrogyria, cortical heterotopias, disorganization of the cerebellar cortex. In ocular histopathology, lacunae were composed of hypo- or depigmented zones of the retinal pigment epithelium accompanied with dispersion of pigments into the rod and cone layer. Coloboma of the optic nerve was also evident. There was no evidence of inflammation or pathogenic organisms.