Fatal Encephalopathy Caused by a Urea Cycle Disorder
نویسندگان
چکیده
منابع مشابه
Nonhepatic hyperammonemic encephalopathy due to undiagnosed urea cycle disorder.
Ornithine transcarbamoylase deficiency is the most common inherited urea cycle disorder. In adults, its phenotypes are diverse. In asymptomatic patients with late presentations, symptom onset is often associated with a precipitating factor. We present a case of a woman with urea cycle disorder diagnosed after an acute peptic ulcer bleed and fasting.
متن کاملUrea Cycle Disorder
RATIONALE. With no effective clearance system for ammonia, levels increase rapidly, resulting in cerebral edema with severe neurologic compromise. Dialysis is the only means of rapid removal of ammonia from blood in acute neonatal hyperammonemia, and hemodialysis is preferred over peritoneal dialysis because it is much more effective. If hemodialysis is not available, hemofiltration can be used...
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Postmortem examination of a 5.5-year-old Holstein cow with history of sudden death showed a veryhuge spleen (120 × 45 × 10 cm) associated with severe haemoperitoneum. Histopathological findingsincluded extensive infiltration of medium to large sized lymphocytic and lymphoblastic cells with smallamounts of cytoplasm, round nuclei with coarsely granular chromatin in the spleen, and limited foci o...
متن کاملHyperammonemia from a Urea Cycle Disorder Presenting in Adulthood
OBJECTIVE: The aim of this report is to describe a patient with late presentation of carbamyl phosphate synthetase I (CPS-I, EC 6.3.4.16) deficiency, a rare urea cycle deficiency, and to facilitate recognition and treatment of patients presenting with encephalopathy and hyperammonemia in a critical care setting. DESIGN: Case Report. SETTING: Intensive care unit of Saint Mary’s Hospital, Mayo Cl...
متن کاملEncephalopathy caused by thiamine deficiency.
513 July 2015, Vol. 105, No. 7 Encephalopathy caused by thiamine deficiency To the Editor: Antel et al.[1] have drawn attention to the acute encephalopathy caused by thiamine deficiency in non-alcohol-related settings. I would like to highlight a different clinical presentation that ought to be readily recognised as a possible manifestation of this deficiency, namely rapidly progressive leg wea...
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ژورنال
عنوان ژورنال: Journal of Clinical Neurology
سال: 2021
ISSN: 1738-6586,2005-5013
DOI: 10.3988/jcn.2021.17.2.325