Disturbances in neuronal migration and laminar cortical organization associated with multicystic encephalopathy in the Pena-Shokeir syndrome.

The Pena-Shokeir syndrome is characterized by intrauterine growth retardation, camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia. The condition is thought to be inherited in an autosomal recessive fashion. A detailed neuropathological analysis of the brain of a stillborn full-term male infant who exhibited the gross features of the Pena-Shokeir syndrome revealed diffuse bilateral cerebral polymicrogyria associated with multicystic encephalopathy. Abnormal brain development, which was characterized by disturbances in neuronal migration and laminar cortical organization, was clearly associated with changes of an encephaloclastic nature, namely reactive gliosis and infiltration by macrophages. These findings suggest strongly that the Pena-Shokeir syndrome may also result from teratogenic factors such as intrauterine ischemic and/or hypoxic insults to the developing brain.