3-Methyl glutaconic aciduria in Iraqi Jewish children may be misdiagnosed as cerebral palsy

Neuropediatrics
R StraussbergN Gadoth

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.

Citations

Dec 19, 2000·Pediatric Neurology·C PantaleoniD Riva
Oct 23, 2001·Archives of Disease in Childhood·R Gupta, R E Appleton
May 11, 2004·Seminars in Pediatric Neurology·Barry S Russman, Stephen Ashwal
May 21, 2013·International Journal of Environmental Research and Public Health·Shan LvXiao-Nong Zhou

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