Download PDF
Neuropediatrics 1998; 29(1): 54-56
DOI: 10.1055/s-2007-973537
Short communications

© Hippokrates Verlag GmbH Stuttgart

3-Methyl Glutaconic Aciduria in Iraqi Jewish Children May be Misdiagnosed as Cerebral Palsy

R. Straussberg1 , N. Brand2 , N. Gadoth3
  • 1Department of Child Neurology, Schneider Children's Medical Center, Petah Tiqva, Israel,
  • 2The Child Developmental Center, Sheba Medical Center, Tel Hashomer, Israel,
  • 3Department of Neurology, Rabin Medical Center, Beilinson Campus, Sackler Faculty of Medicine, Tel Aviv University, Petah Tiqva, Israel
Further Information

Publication History

Publication Date:
12 March 2007 (online)

Also available at
  PDF Download  Permissions and Reprints

Abstract

It is generally accepted that patients with cerebral palsy suffer from a static encephalopathy causing a non-progressive disorder of posture and/or movement. We describe 7 patients from 5 families who were initially diagnosed with cerebral palsy. Eventually, excessive excretion of urinary 3-rnethyl glutaconic acid (3-MCA) was found. The data of our 7 patients are quite similar to the clinical description of Costeff et al (1989): Jewish-Iraqi origin (7/7), consanguinity (2/7), involuntary movements (5/7), ataxia (6/7), pyramidal involvement (6/7) and optic atrophy (6/7). The cognitive functions were intact in 5/7 and 2/7 showed mild to moderate mental retardation. The mean delay in the definitive diagnosis was 9 years. Cerebral palsy-like symptoms accompanied by optic atrophy and extrapyramidal signs should call for extensive metabolic evaluation including the determination of urinary 3-MCA.

Key words

3-MCA - Cerebral palsy - 3-methyl glutaconic aciduri