Format

Send to:

Choose Destination
See comment in PubMed Commons below
Pediatr Neurol. 2006 Aug;35(2):139-41.

Corticospinal tract involvement in a patient with 3-HMG coenzyme A lyase deficiency.

Author information

  • 1Department of Pediatrics, Division of Child Neurology, Marmara University School of Medicine, Istanbul, Turkey. yukselymd@e-kolay.net

Abstract

3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency, an inborn error of ketone body synthesis and leucine degradation, is a rare disorder. There are few reports demonstrating clinical and neuroradiologic findings of this condition. This report describes a 3.5-year-old previously healthy male who was admitted with complex partial seizures and was diagnosed as having 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency. The patient's previous medical history was unremarkable. His development and neurologic examination were normal. Cranial magnetic resonance imaging indicated prominent corticospinal tract and pontine involvement with focal cerebral white matter changes which have not been described in the literature before.

PMID:
16876013
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk