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Neuropediatrics 1981; 12(3): 279-286
DOI: 10.1055/s-2008-1059658
DOI: 10.1055/s-2008-1059658
AlCARDI's SYNDROME - REPORT OF AN AUTOPSY CASE
Further Information
Publication History
Publication Date:
19 March 2008 (online)
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.
Key words
Aicardi's syndrome - convulsions - agenesis of the corpus callosum - chorioretinopathy