Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition

著者: Leonardo Salviati, Sabrina Sacconi, Luisa Murer, G Zacchello, Lorenzo Franceschini, Anna Maria Laverda, Giuseppe Basso, Catarina M. Quinzii, C. Angelini, Michio Hirano, Ali Naini, Plácido Navas, S. DiMauro, Giovanni Montini - Neurology 2005 被引用: 192

Coenzyme Q10 (CoQ10) deficiency has been associated with various clinical phenotypes, including an infantile multisystem disorder. The authors report a 33-month-old boy who presented with corticosteroid-resistant nephrotic syndrome in whom progressive encephalomyopathy later developed. CoQ10 was decreased both in muscle and in fibroblasts. Oral CoQ10 improved the neurologic picture but not the renal dysfunction.