Pierre Robin Syndrome

Summary Clinical, light and electron-microscopic, and biochemical observations are presented in an 11 years old boy with Pierre Robin Syndrome; micrognathia, cleft palate and glossoptosis. Respiratory distress and feeding difficulties were early and serious complications of the glossoptosis. Cachexia, a striking physical underdevelopment, profound psychomotor retardation and epilepsy constituted the prominent clinical features. The neuropathology of the syndrome was characterized by the following: 1. Arrest in cerebral growth and maturation; 2. Mild diffuse and laminar cortical neuronal losses and astrocytic fibrosis; and 3. Minor histogenetic anomaly in the cerebellar cortex.The arrest in cerebral development was reflected grossly by microencephaly and, histologically by immaturity of numerous cortical neurons, poverty of intracortical fibrillary plexuses, poor establishment of cytoarchitectonic characteristics and hypoplasia of hemispheric white matter. At subcellular level, there was diminution of cytoplasmic organelles, particularly the rough endoplasmic reticulum. A marked deficiency in myelin lipids and severe diminution of total ganglioside concentration in the cerebral cortex were the major biochemical findings.In the pathogenesis of cerebral alterations congenital factors and the complications of glossoptosis were considered. It was suggested that the early undernutrition played an important role in the impediment of cerebral growth and maturation. The cerebral hypoxic insults further curtailed the development of already compromised neurons and depressed their functional activities, particularly in the more susceptible cerebral cortex. It was proposed that the arrested brain development provided a substantial structural basis for the psychomotor retardation.