3-METHYL GLUTACONIC ACIDURIA IN IRAQI JEWISH CHILDREN MAYBE MISDIAGNOSED AS CEREBRAL-PALSY

Citation
R. Straussberg et al., 3-METHYL GLUTACONIC ACIDURIA IN IRAQI JEWISH CHILDREN MAYBE MISDIAGNOSED AS CEREBRAL-PALSY, Neuropediatrics, 29(1), 1998, pp. 54-56
Citations number
20
Categorie Soggetti
Pediatrics,"Clinical Neurology
Journal title
ISSN journal
0174304X
Volume
29
Issue
1
Year of publication
1998
Pages
54 - 56
Database
ISI
SICI code
0174-304X(1998)29:1<54:3GAIIJ>2.0.ZU;2-D
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 init ially diagnosed with cerebral palsy. Eventually, excessive excretion o f 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), involuntar y 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 sho wed mild to moderate mental retardation. The mean delay in the definit ive diagnosis was 9 years. Cerebral palsy-like symptoms accompanied by optic atrophy and extrapyramidal signs should call for extensive meta bolic evaluation including the determination of urinary 3-MGA.