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Neuropathological findings in the cerebro-oculo-facio-skeletal (Pena-Shokeir II) syndrome
T Sakai1, F Kikuchi, S Takashima
1Department of Biochemistry, Kyorin University School of Medicine, Tokyo, Japan.
Brain & Development
|January 1, 1997
Abstract:
An autopsy case is described of an infant with cerebro-oculo-facio-skeletal (COFS) (Pena-Shokeir II) syndrome who died of pneumonia at the age of 5 months, and the pathology of the CNS in this case and the cases in literature were reviewed. Neuropathological examination revealed a partial defect of the corpus callosum, lobulation of the caudate nucleus and putamen, polymicrogyria in the parietal lobes and neuronal heterotopia in the cerebral and cerebellar white matter. The migration disorders suggest that the onset starts in the early fetal period.