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 language | English (US) |
---|---|
Pages (from-to) | 414-417 |
Number of pages | 4 |
Journal | Journal of Neuroimaging |
Volume | 24 |
Issue number | 4 |
DOIs | |
State | Published - Jan 1 2014 |
Keywords
- Beta-ketothiolase
- Globi pallidi
- Neuroimaging
- Pediatrics
- Restricted diffusion
ASJC Scopus subject areas
- Radiology Nuclear Medicine and imaging
- Clinical Neurology