Sudden death in Williams syndrome: report of ten cases.

Williams syndrome (WS) is a recognizable pattern of malformation with mental retardation, mild growth deficiency, characteristic facies and temperament, and cardiovascular disease. Sudden death is a recognized complication of WS; however, it is thought to be rare. The clinical features of 10 children with WS who died suddenly are reported here, doubling the number of unexpected deaths reported in the literature. We suggest that sudden death is a more common complication than has been assumed previously. Pathologic findings on the seven autopsy cases implicate two anatomic abnormalities that predispose individuals with WS to sudden death: coronary artery stenosis and severe biventricular outflow tract obstruction. The mechanisms for sudden death for both anatomic subgroups include myocardial ischemia, decreased cardiac output, and arrhythmia. We believe these observations warrant the development of strategies for monitoring patients with WS in an attempt to identify those at increased risk of sudden death.

Monoclonal antibodies to human neuron-specific enolase reveal heterogeneity of the enzyme in neurons of the central nervous system.

Three monoclonal antibodies to human neuron-specific enolase (NSE) were used to survey the human brain and spinal cord for immunoreactivity. Two of the antibodies (EB and CF) recognized the same population of cells and cell processes. Reactivity was restricted to myelinated axons, basket cell bodies and processes, and a small population of pyramidal cell bodies in the visual cortex. The third antibody (AD) reacted with some, but not all, of the neuronal cell bodies in cerebral cortex, hippocampus, midbrain, and spinal cord. Many neurons did not react with any of the antibodies. The epitope recognized by AD was trypsin-sensitive, while those recognized by EB and CF were not. These studies suggest that NSE may have multiple conformational or structural forms which are segregated between the cell body and axon.