EVIDENCE FOR MITOCHONDRIAL DYSFUNCTION IN PATIENTS WITH ALTERNATING HEMIPLEGIA OF CHILDHOOD

Phosphorus magnetic resonance spectra of resting muscle were obtained from 4 patients with alternating hemiplegia of childhood. All patients had abnormally high resonance intensities from inorganic phosphate an d an abnormally low calculated cytosolic phosphorylation potential. Tw o of the 4 patients had abnormally low resonance intensities from phos phocreatine and an abnormally high calculated cytosolic free adenosine diphosphate concentration. These abnormalities are indicative of mito chondrial dysfunction. The combination of a central nervous system dis order and evidence of mitochondrial dysfunction in muscle suggests tha t alternating hemiplegia of childhood may represent a previously unrec ognized phenotype of mitochondrial disease.