1/5. carbamyl phosphate synthetase 1 deficiency: a destructive encephalopathy.carbamyl phosphate synthetase I is a urea cycle enzyme. Severe deficiency of carbamyl phosphate synthetase I presents in the neonatal period as hyperammonemic encephalopathy with altered consciousness and occasional seizures after feeding begins. Episodes of altered consciousness with or without seizures and focal neurologic deficits are seen later with patients of partial carbamyl phosphate synthetase I deficiency. Fatal cerebral edema with brain herniation may develop on occasion. Three patients presenting with carbamyl phosphate synthetase I deficiency are reported with neuroimaging and pathologic findings illustrating the destructive encephalopathy with acute cerebral edema, followed by diffuse cerebral atrophy and occasional cystic encephalomalacia. The deterioration in carbamyl phosphate synthetase I deficiency occurs during the hyperammonemic crises. This deficiency may be difficult to treat despite the current advances in treatment strategies, especially in neonatal-onset patients with low carbamyl phosphate synthetase I activity.- - - - - - - - - - ranking = 1keywords = cerebral edema, edema, cerebral (Clic here for more details about this article) |
2/5. Movement dysfunction and hepatic encephalopathy.hepatic encephalopathy is characterized by a variety of neurological symptoms. The occurrence of movement disorders is exceptional and is usually part of a clinical syndrome called acquired hepatocerebral degeneration, which is a subtype of chronic recurrent hepatic encephalopathy. The clinical picture is usually progressive and pathologic findings include regional astroglial and neuronal abnormalities found predominantly in cortex and basal ganglia. As for hepatic encephalopathy in general, the pathophysiology of this disorder is unknown but hyperammonemia and/or brain manganese overload may play a role. Medical treatment is often disappointing but in selected cases liver transplantation may be curative.- - - - - - - - - - ranking = 0.00044575981969516keywords = cerebral (Clic here for more details about this article) |
3/5. primidone-induced hyperammonemic encephalopathy in a patient with cerebral astrocytoma.A case of a patient with astrocytoma who showed somnolence and asterixis one month after tumour resection is presented. Although primidone had been prescribed preoperatively for five years and the same dose was maintained after the operation, the serum concentration of the primidone metabolite phenobarbital was elevated and she demonstrated hyperammonemic encephalopathy, which disappeared on withdrawal of the drug. A description of this seldom reported phenomenon during primidone therapy is given, with reference to valproate cases.- - - - - - - - - - ranking = 0.0017830392787806keywords = cerebral (Clic here for more details about this article) |
4/5. status epilepticus as a manifestation of hepatic encephalopathy.OBJECTIVES: seizures have been described as a rare manifestation of hepatic encephalopathy. MATERIAL AND methods: We present a 54-year-old female, with 6-year history of decompensated, hepatitis b liver cirrhosis, admitted with generalized seizures. She reported a history of recurrent episodes of hepatic encephalopathy, spontaneous bacterial peritonitis, tense ascites and variceal hemorrhage. neurologic examination revealed a comatose patient, without papilledema. Laboratory examinations were suitable with cirrhosis and mild renal failure. blood gas examination revealed severe metabolic acidosis and hypoxemia. plasma NH3 levels upon admission were twice normal. brain computed tomography and magnetic resonance imaging were normal. Electroencephalogram showed diffuse sharp waves, consistent with hepatic encephalopathy, grades III-IV. RESULTS: status epilepticus was refractory to continuous antiepileptic treatment. However, it was resolved after 24-h therapy with lactulose. blood NH3 levels were simultaneously normalized with clinical improvement. CONCLUSIONS: We consider the status epilepticus of our patient to be a rare manifestation of hepatic encephalopathy.- - - - - - - - - - ranking = 0.0019246885306143keywords = edema (Clic here for more details about this article) |
5/5. Fatal cerebral edema from late-onset ornithine transcarbamylase deficiency in a juvenile male patient receiving valproic acid.OBJECTIVES: The aims of this report are to 1) present a rare case of fatal cerebral edema associated with late-onset ornithine transcarbamylase (OTC) deficiency in a juvenile male patient receiving valproic acid and 2) review the neuropathologic changes associated with the hyperammonemia. DESIGN: Case report. SETTING: A community hospital and a tertiary pediatric critical care unit. INTERVENTIONS: Carbohydrate administration, intravenous nitrogen excretion cocktail, and high-flux hemodialysis. MEASUREMENTS AND MAIN RESULTS: Despite aggressive therapy for presumed late-onset OTC deficiency, the patient rapidly developed fatal cerebral edema with tonsillar herniation. A liver biopsy confirmed OTC deficiency with approximately 3% of residual hepatic enzyme activity. Chromosomal analysis showed a normal male karyotype. A thorough molecular analysis of the coding region in the OTC gene Xp21.1 was completed, but mutations were not identified, suggesting an upstream or downstream abnormality. Severe brain swelling was evident on neuropathology, and histopathology showed Alzheimer type II astrocytes, neuronal cytoplasmic changes, and hypertrophy and eosinophilia of the small arterial walls. CONCLUSIONS: OTC deficiency is the most common urea cycle defect causing hyperammonemia. Late-onset presentations of OTC are infrequent, primarily affecting female patients. We present a rare case of a late-onset OTC deficiency in a juvenile male patient receiving valproic acid therapy who developed fatal cerebral edema. valproic acid exacerbates acute elevations in ammonia and may contribute synergistically with ammonia to cerebral mitochondrial dysfunction.- - - - - - - - - - ranking = 3.4988856004508keywords = cerebral edema, edema, cerebral (Clic here for more details about this article) |