Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation
dc.contributor.author | Keegan, Catherine E. | en_US |
dc.contributor.author | Quint, Douglas J. | en_US |
dc.contributor.author | Gorski, Jerome L. | en_US |
dc.contributor.author | Martin, Donna M. | en_US |
dc.date.accessioned | 2006-09-08T20:08:14Z | |
dc.date.available | 2006-09-08T20:08:14Z | |
dc.date.issued | 2003-04 | en_US |
dc.identifier.citation | Keegan, C. E.; Martin, D. M.; Quint, D. J.; Gorski, J. L.; (2003). "Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation." European Journal of Pediatrics 162(4): 259-263. <http://hdl.handle.net/2027.42/42255> | en_US |
dc.identifier.issn | 0340-6199 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/42255 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=12647200&dopt=citation | en_US |
dc.description.abstract | A 6-year-old male with partial ornithine transcarbamylase (OTC) deficiency had acute and rapidly progressive symmetrical swelling of the head of the caudate nuclei and putamina. Clinical presentation was ataxia and dysarthria progressing to seizures and coma; these symptoms gradually resolved with supportive management. Although he had been recently treated for mild hyperammonemia, there was no evidence of acute metabolic decompensation prior to presentation, and plasma ammonia and amino acids were consistent with good metabolic control. This case is novel in that the neurological insult affected the neostriatum of the basal ganglia and the episode occurred in the absence of an apparent metabolic abnormality, unique observations in a patient with OTC deficiency. Conclusion: This case suggests that the pathophysiology of metabolic stroke is complicated. It also argues for an evaluation for metabolic stroke in patients with known inborn errors of metabolism who present with unusual neurological symptoms in the absence of biochemical abnormalities. Similarly, this case suggests that patients presenting with unexplained neurological insults might benefit from an evaluation for an inborn error of metabolism. | en_US |
dc.format.extent | 279093 bytes | |
dc.format.extent | 3115 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Springer-Verlag | en_US |
dc.subject.other | Legacy | en_US |
dc.subject.other | Metabolism Amino Acid Metabolism Inborn Errors Basal Ganglia Neostriatum | en_US |
dc.title | Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Pediatrics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Radiology, University of Michigan Medical School, 48109, Ann Arbor, MI, | en_US |
dc.contributor.affiliationum | Department of Pediatrics and Communicable Diseases, Division of Pediatric Genetics, University of Michigan School of Medicine, 3570 MSRB II, P.O. Box 0688, 48109-0688, Ann Arbor, MI, USA, | en_US |
dc.contributor.affiliationum | Department of Pediatrics and Communicable Diseases, Division of Pediatric Genetics, University of Michigan School of Medicine, 3570 MSRB II, P.O. Box 0688, 48109-0688, Ann Arbor, MI, USA, | en_US |
dc.contributor.affiliationum | Department of Pediatrics and Communicable Diseases, Division of Pediatric Genetics, University of Michigan School of Medicine, 3570 MSRB II, P.O. Box 0688, 48109-0688, Ann Arbor, MI, USA, | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 12647200 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/42255/1/s00431-002-1135-1.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/s00431-002-1135-1 | en_US |
dc.identifier.source | European Journal of Pediatrics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
Files in this item
Remediation of Harmful Language
The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.
Accessibility
If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.