PENA-SHOKEIR PHENOTYPE ASSOCIATED WITH BILATERAL OPERCULAR POLYMICROGYRIA

Autopsy examination of an infant with the Pena-Shokeir phenotype revea led bilateral opercular polymicrogyria associated with neuronal loss a nd ferrugination in the basal ganglia, thalamus, brainstem, and spinal anterior horns. Bilateral opercular polymicrogyria previously has bee n linked to the developmental form of Foix-Chavany-Marie syndrome, or faciopharyngoglossomasticatory diplegia, In the Pena-Shokeir phenotype , bilateral opercular polymicrogyria may contribute to deficits in swa llowing and facial movements. The pattern of brain and spinal cord inj ury in this case supports previous suggestions that the Pena-Shokeir p henotype (and certain other forms of arthrogryposis multiplex congenit al may be caused by hypoxic-ischemic injury to the developing central nervous system. (C) 1996 by Elsevier Science Inc.