Document Detail


D-glyceric aciduria in a six-month-old boy presenting with West syndrome and autistic behaviour.
MedLine Citation:
PMID:  11930278     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
D-Glyceric aciduria is a disease with a very heterogeneous group of symptoms, with D-glyceric acid excretion as the chief common characteristic. Findings described in previous patients include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. However, there are also asymptomatic patients with mild neurological impairment. A six-month-old boy was admitted to our clinic with the complaints of dullness to his environment, seizures and autistic behaviour. EEG revealed multifocal generalized epileptic activity in a hypsarrhythmia pattern. Organic acid analysis (GC-MS) in urine revealed increased glyceric acid excretion. Analysis of the optical form of glyceric acid by a polarimetric method supported the diagnosis of D-glyceric aciduria. MRI showed white matter lesions with cerebral atrophy, particularly in the frontotemporal regions, and reversible abnormalities in the mesencephalon, thalami and globus pallidium resolving after fructose restriction in the diet. To our knowledge, this is the first case report of a patient with D-glyceric aciduria who presented with West syndrome and autistic behaviour in whom serial MRI findings are also defined.
Authors:
M Topcu; I Saatci; G Haliloglu; M Kesimer; T Coskun
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neuropediatrics     Volume:  33     ISSN:  0174-304X     ISO Abbreviation:  Neuropediatrics     Publication Date:  2002 Feb 
Date Detail:
Created Date:  2002-04-03     Completed Date:  2002-06-12     Revised Date:  2008-01-16    
Medline Journal Info:
Nlm Unique ID:  8101187     Medline TA:  Neuropediatrics     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  47-50     Citation Subset:  IM    
Affiliation:
Department of Pediatric Neurology, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey. mtopcu@gen.hun.edu.tr
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MeSH Terms
Descriptor/Qualifier:
Autistic Disorder / complications*,  pathology,  urine*
Glyceric Acids / urine*
Humans
Infant
Magnetic Resonance Imaging
Male
Metabolism, Inborn Errors / complications*,  pathology,  urine*
Spasms, Infantile / complications*,  pathology,  urine*
Chemical
Reg. No./Substance:
0/Glyceric Acids; 473-81-4/glyceric acid

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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