Lower motor neuron involvement in perisylvian polymicrogyria

Congenital bilateral perisylvian polymicrogyria syndrome (CBPS) has a cerebral cortical localization and its phenotype was thought to be purely central. This study of seven children with CBPS (five males, two females; mean age 5 y SD 3 y 6 mo]; range 1 mo-11 y 10 mo) documents electrophysiological evidence of lower motor neuron involvement in association with congenital contractures (limb or jaw) in six of the seven children studied. This is not an expected association and does not conform to the traditional lesional classification system of the cerebral palsies. Possible pathogenic mechanisms are discussed but this association of upper and lower motor neuron involvement is likely to be a previously unsuspected part of a genetic or other pathogenic sequence.