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

Neuropediatrics. 1998 Feb;29(1):54-6. doi: 10.1055/s-2007-973537.

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.

Publication types

  • Case Reports

MeSH terms

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

Substances

  • Glutarates