3-Methyl glutaconic aciduria in Iraqi Jewish children may be misdiagnosed as cerebral palsy.
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.
Straussberg
R
R
Department of Child Neurology, Schneider Children's Medical Center, Petah Tiqva, Israel.
Brand
N
N
Gadoth
N
N
D000328:Adult; D017668:Age of Onset; D002547:Cerebral Palsy / Q000175:diagnosis* / Q000652:urine; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D018450:Disease Progression; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007223:Infant; D007493:Iraq / Q000208:ethnology; D007585:Jews; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000652:urine; D009069:Movement Disorders / Q000175:diagnosis* / Q000652:urine; D009896:Optic Atrophy / Q000175:diagnosis* / Q000652:urine; D010264:Paraplegia / Q000175:diagnosis / Q000652:urine; D013577:Syndrome
D005977:Glutarates