• KOL
    • Cerebral Palsy
    • 3-Methyl Glutaconic...
    • 3-Methyl Glutaconic Aciduria in Iraqi Jewish Children May be Misdiagnosed as Cerebral Palsy: Influence Statistics

      Expert Impact

      Concepts for whichthey havehas direct influence:Cerebral palsy,Palsy child,Static encephalopathy,Nonprogressive disorder,Inborn errors,Diagnosis differential,Movement disorders,Metabolism inborn.

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

      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.

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