3 SIBLINGS OF FATAL INFANTILE ENCEPHALOPATHY WITH OLIVOPONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY

We report three male siblings born with fatal encephalopathy comprisin g microcephaly, myoclonus and muscle hypertonia. All three patients di ed during infancy. Postmortem examination on the brain revealed that a ll infants had neuronal loss in the cerebellar cortex, inferior olivar y and pontine nuclei, which were more pronounced in the older subject than the younger ones. In addition, they were associated with polymicr ogyria in the cerebral cortex of the insula, olivary and dentate nucle ar dysplasia, and a hypoplastic corticospinal tract. The clinical and neuropathological findings in our cases were identical to those in fat al infantile encephalopathy with olivopontocerebellar hypoplasia and m icroencephaly [Albrecht et al., Acta Neuropathol 1993;85:394-399], but an association of malformations suggests a new genetic factor in path ogenesis of olivopontocerebellar hypoplasia. (C) 1998 Elsevier Science B.V.