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 |
|---|---|
| Pages (from-to) | 414-417 |
| Number of pages | 4 |
| Journal | Journal of Neuroimaging |
| Volume | 24 |
| Issue number | 4 |
| DOIs | |
| State | Published - Jan 1 2014 |
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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 journal › Article
}
TY - JOUR
T1 - MRI of pallidal involvement in beta-ketothiolase deficiency
AU - O'Neill, Michael L.
AU - Kuo, Frank
AU - Saigal, Gaurav
PY - 2014/1/1
Y1 - 2014/1/1
N2 - 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.
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.
KW - Beta-ketothiolase
KW - Globi pallidi
KW - Neuroimaging
KW - Pediatrics
KW - Restricted diffusion
UR - http://www.scopus.com/inward/record.url?scp=84904385100&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84904385100&partnerID=8YFLogxK
U2 - 10.1111/j.1552-6569.2012.00772.x
DO - 10.1111/j.1552-6569.2012.00772.x
M3 - Article
C2 - 23163837
AN - SCOPUS:84904385100
VL - 24
SP - 414
EP - 417
JO - Journal of Neuroimaging
JF - Journal of Neuroimaging
SN - 1051-2284
IS - 4
ER -