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NEUROLOGY 2005;65:606-608
© 2005 American Academy of Neurology
Brief Communications

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

L. Salviati, MD, PhD, S. Sacconi, MD, L. Murer, MD, G. Zacchello, MD, L. Franceschini, A. M. Laverda, MD, G. Basso, MD, C. Quinzii, C. Angelini, MD, M. Hirano, MD, A. B. Naini, PhD, P. Navas, PhD, S. DiMauro, MD and G. Montini, MD

From the Servizio di Genetica Clinica ed Epidemiologica (Dr. Salviati), Departments of Pediatrics (Drs. Murer, Zacchello, Franceschini, Laverda, Basso, and Montini) and Neurosciences (Dr. Angelini), University of Padova, Padova, Italy; Fédération des Maladies Neuromusculaires and INSERM U638 (Dr. Sacconi), Nice, France; Department of Neurology (Drs. Quinzii, Hirano, Naini, and DiMauro), Columbia University, New York, NY; Laboratorio Andaluz de Biologia del Desarrollo (Dr. Navas), Universidad Pablo de Olavide, Sevilla, Spain.

Address correspondence and reprint requests to Dr. Leonardo Salviati, Servizio di Genetica Clinica ed Epidemiologica, Dipartimento di Pediatria Università di Padova, Via Giustiniani 3, 35128 Padova, Italy; e-mail: leonardo.salviati{at}unipd.it

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.

Supported by Fondazione Città Della Speranza, NIH grants NS11766 and HD32062, a grant from the Muscular Dystrophy Association, the Marriott Mitochondrial Disorders Clinical Research Fund (MMDCRF), and European Commission research contract 005151.

Disclosure: The authors report no conflicts of interest.

Received February 1, 2005. Accepted in final form May 4, 2005.




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