MRI of pallidal involvement in beta-ketothiolase deficiency

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

doi:10.1111/j.1552-6569.2012.00772.x

MRI of pallidal involvement in beta-ketothiolase deficiency

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

Radiology

Research output: Contribution to journal › Article › peer-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 language	English (US)
Pages (from-to)	414-417
Number of pages	4
Journal	Journal of Neuroimaging
Volume	24
Issue number	4
DOIs	https://doi.org/10.1111/j.1552-6569.2012.00772.x
State	Published - 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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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.",

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AU - Kuo, Frank

AU - Saigal, Gaurav

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AB - 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.

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KW - Pediatrics

KW - Restricted diffusion

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MRI of pallidal involvement in beta-ketothiolase deficiency

Abstract

Keywords

ASJC Scopus subject areas

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