A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy

Research output: Contribution to journalArticle

Abstract

3-Methylglutaconic aciduria is a rare hereditary metabolic disorder characterized by increased urinary excretion of 3-methylglutaconic and 3-methylglutaric acids. Four clinical forms are recognized. This study presents the case of a 5-year-old male with type IV 3-methylglutaconic aciduria, initially diagnosed as 'static encephalopathy.' The slow evolution and other clinical characteristics, together with cerebral magnetic resonance imaging (MRI) findings, eventually directed the diagnosis to organic aciduria that was confirmed by urine test. This study proposes that the clinical criteria for childhood cerebral palsy should be rigorously respected; neuroimaging studies, particularly MRI, should be conducted to confirm the diagnosis, especially in atypical cases. (C) 2000 by Elsevier Science Inc.

Original languageEnglish
Pages (from-to)442-444
Number of pages3
JournalPediatric Neurology
Volume23
Issue number5
DOIs
Publication statusPublished - 2000

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Cerebral Palsy
Diagnostic Errors
Magnetic Resonance Imaging
Brain Diseases
Neuroimaging
Urine
3-Methylglutaconic Aciduria
3-methylglutaric acid
3-Methylglutaconic Aciduria Type IV
Clinical Studies

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy. / Pantaleoni, Chiara; D'Arrigo, Stefano; D'Incerti, Ludovico; Rimoldi, Marco; Riva, Daria.

In: Pediatric Neurology, Vol. 23, No. 5, 2000, p. 442-444.

Research output: Contribution to journalArticle

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