MRI of pallidal involvement in beta-ketothiolase deficiency

Michael L. O'Neill, Frank Kuo, Gaurav Saigal

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

Abstract

Beta-ketothiolase (BKT) deficiency is a rare autosomal recessive metabolic disorder, which causes episodic severe metabolic acidosis. Average onset of disease is from 6 to 24 months. Imaging findings relating to this entity have rarely been reported. We report a case of a 5-year-old girl with BKT deficiency with isolated focal T2 hyperintensities involving the globi pallidi, which demonstrated restricted diffusion. To our knowledge, these imaging findings have not been previously reported in the setting of BKT deficiency.

Original languageEnglish (US)
Pages (from-to)414-417
Number of pages4
JournalJournal of Neuroimaging
Volume24
Issue number4
DOIs
StatePublished - 2014

Keywords

  • Beta-ketothiolase
  • Globi pallidi
  • Neuroimaging
  • Pediatrics
  • Restricted diffusion

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology

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