Format

Send to

Choose Destination
Neuropediatrics. 1998 Feb;29(1):54-6.

3-Methyl glutaconic aciduria in Iraqi Jewish children may be misdiagnosed as cerebral palsy.

Author information

1
Department of Child Neurology, Schneider Children's Medical Center, Petah Tiqva, Israel.

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-methyl glutaconic acid (3-MGA) 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-MGA.

PMID:
9553953
DOI:
10.1055/s-2007-973537
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Georg Thieme Verlag Stuttgart, New York
Loading ...
Support Center