| A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy. | |
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MedLine Citation:
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PMID: 11118804 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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C Pantaleoni; S D'Arrigo; L D'Incerti; M Rimoldi; D Riva |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 23 ISSN: 0887-8994 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2000 Nov |
Date Detail:
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Created Date: 2001-02-08 Completed Date: 2001-02-08 Revised Date: 2006-05-23 |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 442-4 Citation Subset: IM |
Affiliation:
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Department of Pediatric Neurology; Besta Institute, Milan, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Cerebral Palsy
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diagnosis* Child, Preschool Diagnosis, Differential Glutarates / urine* Humans Magnetic Resonance Imaging Male Metabolism, Inborn Errors / diagnosis*, urine |
| Chemical | |
Reg. No./Substance:
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0/Glutarates; 5746-90-7/3-methylglutaconic acid |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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