Ondine's curse: therapeutic trial of dimefline.

Ondine's curse is a rare disorder characterized by primary failure of central regulation of breathing, resulting in severe hypoventilation during sleep. This report describes a 14-year-old girl with both this disorder and hypergonadotropic hypogonadism. As a therapeutic trial, dimefline was administered orally, which was effective in deepening respiration for certain periods of sleep, during which time blood gas levels improved significantly.

Adult form acid maltase deficiency -- a case report.

The case of a 26 year old man with acute respiratory difficulty was reported. Morphological and biochemical analysis of biopsied gastrocnemius muscle indicated a diagnosis of adult form acid maltase deficiency. Clinically, the most interesting point of our case was the presence of a thickening of the posterior papillary muscles and chordae without any functional disturbance, which was detected by echocardiogram.

Alexander disease: clinical, electrodiagnostic and radiographic studies.

A 10-month-old boy with Alexander disease is described. He was clinically characterized by early onset of megalencephaly, psychomotor retardation, spasticity and recurrent seizure attacks. Pathological examination of the biopsied cerebrum revealed a large number of Rosenthal fibers in the white matter and beneath the pia in association with advanced demyelination.