CT and MRI in a girl with late-onset ornithine transcarbamylase deficiency: case report
- 19 November 1996
- journal article
- case report
- Published by Springer Nature in Neuroradiology
- Vol. 38 (8) , 796-799
- https://doi.org/10.1007/s002340050351
Abstract
We report CT and MRI findings in a girl with late-onset ornithine transcarbamylase deficiency, who presented with progressive somnolence. Both imaging methods showed signs of an acute cerebral ischaemia with new defects on follow-up. Despite an unusual clinical presentation, laboratory studies led to the diagnosis of this rare inherited metabolic defect.Keywords
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