Document Detail

Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus.
MedLine Citation:
PMID:  11080238     Owner:  NLM     Status:  MEDLINE    
A 57 year old woman with post-traumatic complex partial seizures was admitted because of recurrent episodes of altered mental state over the preceding 4 years, each lasting up to 5 days. There was a history of dietary protein intolerance since childhood and two of her daughters had died in the neonatal period from unexplained encephalopathies. In hospital she developed fluctuating confusion, amnesia, and sudden episodes of unresponsiveness. An EEG was consistent with complex partial status epilepticus but there was no response to benzodiazepines. Nasogastric feeding and sodium valproate were given and shortly afterwards she lapsed into a deep coma. Blood ammonia and urinary orotate were raised, and genetic testing confirmed that she was a carrier of a mutation in exon 3 of the ornithine transcarbamylase gene (C to T at position 92). Treatment with protein restriction, carnitine, and sodium phenylbutyrate led to a full recovery over a period of 3 months. To our knowledge this is the oldest age of onset yet described in a manifesting carrier. She is the fifth patient with heterozygous ornithine transcarbamylase deficiency reported to have had a severe reaction to sodium valproate. Hyperammonaemic encephalopathy should be considered in patients of any age who experience fluctuating confusion.
M D Bogdanovic; D Kidd; A Briddon; J S Duncan; J M Land
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of neurology, neurosurgery, and psychiatry     Volume:  69     ISSN:  0022-3050     ISO Abbreviation:  J. Neurol. Neurosurg. Psychiatr.     Publication Date:  2000 Dec 
Date Detail:
Created Date:  2000-12-06     Completed Date:  2000-12-22     Revised Date:  2008-11-20    
Medline Journal Info:
Nlm Unique ID:  2985191R     Medline TA:  J Neurol Neurosurg Psychiatry     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  813-5     Citation Subset:  IM    
The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
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MeSH Terms
Diagnosis, Differential
Middle Aged
Ornithine Carbamoyltransferase Deficiency Disease / diagnosis*,  physiopathology
Status Epilepticus / diagnosis*,  physiopathology
Time Factors

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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