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.
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Received: 28 November 1995 Accepted: 5 December 1995
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Bajaj, S., Kurlemann, G., Schuierer, G. et al. CT and MRI in a girl with late-onset ornithine transcarbamylase deficiency: case report. Neuroradiology 38, 796–799 (1996). https://doi.org/10.1007/s002340050351
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DOI: https://doi.org/10.1007/s002340050351