Premium
MRI of Pallidal Involvement in Beta‐Ketothiolase Deficiency
Author(s) -
O'Neill Michael L.,
Kuo Frank,
Saigal Gaurav
Publication year - 2012
Publication title -
journal of neuroimaging
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.822
H-Index - 64
eISSN - 1552-6569
pISSN - 1051-2284
DOI - 10.1111/j.1552-6569.2012.00772.x
Subject(s) - medicine , hyperintensity , beta (programming language) , pathology , cardiology , magnetic resonance imaging , radiology , computer science , programming language
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.