A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy

3-Methylglutaconic aciduria is a rare hereditary metabolic disorder charact erized by increased urinary excretion of 3-methylglutaconic and 3-methylglu taric acids. Four clinical forms are recognized. This study presents the ca se of a 9-year-old male with type IV 3-methylglutaconic aciduria, initially diagnosed as "static encephalopathy." The slow evolution and other clinica l characteristics, together with cerebral magnetic resonance imaging (MRI) findings, eventually directed the diagnosis to organic aciduria that was co nfirmed by urine test. This study proposes that the clinical criteria for c hildhood cerebral palsy should be rigorously respected; neuroimaging studie s, particularly MRI, should be conducted to confirm the diagnosis, especial ly in atypical cases. (C) 2000 by Elsevier Science Inc. All rights reserved .