R. Straussberg et al., 3-METHYL GLUTACONIC ACIDURIA IN IRAQI JEWISH CHILDREN MAYBE MISDIAGNOSED AS CEREBRAL-PALSY, Neuropediatrics, 29(1), 1998, pp. 54-56
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.