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.

• Authors: R Straussberg, N Brand, N Gadoth
• Journal: Neuropediatrics (Neuropediatrics) Vol. 29 Issue 1 Pg. 54-6 (Feb 1998) ISSN: 0174-304X [Print] Germany
• PMID: 9553953 (Publication Type: Case Reports, Journal Article)

Chemical References

• Glutarates

Topics

• Adult
• Age of Onset
• Cerebral Palsy (diagnosis, urine)
• Child
• Child, Preschool
• Consanguinity
• Diagnosis, Differential
• Diagnostic Errors
• Disease Progression
• Female
• Glutarates (urine)
• Humans
• Infant
• Iraq (ethnology)
• Jews
• Male
• Metabolism, Inborn Errors (diagnosis, urine)
• Movement Disorders (diagnosis, urine)
• Optic Atrophy (diagnosis, urine)
• Paraplegia (diagnosis, urine)
• Syndrome