MRI of pallidal involvement in beta-ketothiolase deficiency

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

Research output: Contribution to journalArticle

8 Citations (Scopus)

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
Pages (from-to)414-417
Number of pages4
JournalJournal of Neuroimaging
Volume24
Issue number4
DOIs
StatePublished - Jan 1 2014

Fingerprint

Globus Pallidus
Acidosis
Beta ketothiolase deficiency

Keywords

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

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology

Cite this

MRI of pallidal involvement in beta-ketothiolase deficiency. / O'Neill, Michael L.; Kuo, Frank; Saigal, Gaurav.

In: Journal of Neuroimaging, Vol. 24, No. 4, 01.01.2014, p. 414-417.

Research output: Contribution to journalArticle

O'Neill, Michael L. ; Kuo, Frank ; Saigal, Gaurav. / MRI of pallidal involvement in beta-ketothiolase deficiency. In: Journal of Neuroimaging. 2014 ; Vol. 24, No. 4. pp. 414-417.
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