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

L Salviati, S Sacconi, L Murer, G Zacchello… - Neurology, 2005 - AAN Enterprises
L Salviati, S Sacconi, L Murer, G Zacchello, L Franceschini, AM Laverda, G Basso, C Quinzii
Neurology, 2005AAN Enterprises
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.
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.
American Academy of Neurology