MRI of Pallidal Involvement in Beta-Ketothiolase Deficiency

Michael O'Neill

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MRI of Pallidal Involvement in Beta-Ketothiolase Deficiency

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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non-peer-reviewed

MRI of Pallidal Involvement in Beta-Ketothiolase Deficiency

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Michael O'Neill Corresponding Author

University of Miami Miller School of Medicine, Portland, USA

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Published: October 05, 2012

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© Copyright 2012
O'Neill. This is an open access poster distributed under the terms of the Creative Commons Attribution License CC-BY 3.0., which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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This is an open access poster distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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MRI of Pallidal Involvement in Beta-Ketothiolase Deficiency

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MRI of Pallidal Involvement in Beta-Ketothiolase Deficiency

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Michael O'Neill Corresponding Author

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