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Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.
Mol Genet Metab
January 2010
Department of Pediatric Neurology, Ostschweizer Kinderspital, Claudiusstrasse 6, CH 9006 St. Gallen, Switzerland.
We describe a 3.5-year-old female with Alpers disease with a POLG genotype of p.A467T/p.
View Article and Find Full Text PDFAlpers syndrome with prominent white matter changes.
Brain Dev
April 2008
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Alpers syndrome is a fatal neurogenetic disorder caused by the mutations in POLG1 gene encoding the mitochondrial DNA polymerase gamma (polgamma). Two missense variants, c.248T > C (p.
View Article and Find Full Text PDFAlpers syndrome: progressive neuronal degeneration of children with liver disease.
Dev Med Child Neurol
December 2006
Huntlywood, 3 Styal Road, Wilmslow, Cheshire SK9 4AE, UK.
Alpers syndrome was not clearly defined until the link between brain and liver disease was described. Alpers syndrome can now be clearly established as a disorder of oxidative metabolism related to mitochondrial dysfunction, and in most instances with an autosomal mode of inheritance. The symptoms and signs are discussed.
View Article and Find Full Text PDF[Early mitochondrial encephalomyopathy due to complex IV deficiency consistent with Alpers-Huttenlocher syndrome: report of two cases].
Rev Neurol
February 2000
Departamento de Pediatría, Servicio de Neuropediatría, Hospital General de Galicia, Santiago de Compostela, España.
Introduction: Complex IV or cytochrome c oxidase (COX) deficiency is the most common disorder involving complexes of the respiratory chain in the pediatric age. Exceptionally, it has been reported in association with Alpers syndrome or Alpers disease, and with its variant named progressive neuronal degeneration with liver disease or Alpers-Huttenlocher syndrome.
Objective: To report the cases of two infants with mitochondrial encephalomyopathy due to COX deficiency in whom the clinical, biochemical, neurophysiologic and neuroimaging characterization suggested an associated Alpers-Huttenlocher syndrome.
Encephalopathy complicating Henoch-Schönlein purpura: reversible MRI changes.
Pediatr Neurol
July 1998
Department of Pediatrics, British Columbia's Children's Hospital, University of British Columbia, Vancouver, Canada.
A 10-year-old boy with Henoch-Schönlein purpura complicated by encephalopathy, transient cortical blindness, and a secondary generalized seizure is reported. Reversible changes in the posterior white and gray matter were seen on magnetic resonance imaging. Our patient illustrates uncommon neurologic manifestations of Henoch-Schönlein purpura.
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