title: Alpers syndrome with prominent white matter changes.
abstract: 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.L83P), c.2662G > A (p.G888S) in POLG1 were detected in a 10-year-old Chinese girl with refractory seizures, acute liver failure after exposure to valproic acid, cortical blindness, and psychomotor regression. The pathology of left occipital lobe showed neuronal loss, spongiform degeneration, astrocytosis, and demyelination. In addition, there were prominent white matter changes in a series of brain magnetic resonance imaging (MRI) and increased immunological factors in CSF.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, China. zwhang@pku.edu.cn
authors.forename: Xinhua
authors.initials: X
authors.lastname: Bao
authors.forename: Ye
authors.initials: Y
authors.lastname: Wu
authors.forename: Lee-Jun C
authors.initials: LJ
authors.lastname: Wong
authors.forename: Yuehua
authors.initials: Y
authors.lastname: Zhang
authors.forename: Hui
authors.initials: H
authors.lastname: Xiong
authors.forename: Ping-Chieh
authors.initials: PC
authors.lastname: Chou
authors.forename: Cavatina K
authors.initials: CK
authors.lastname: Truong
authors.forename: Yuwu
authors.initials: Y
authors.lastname: Jiang
authors.forename: Jiong
authors.initials: J
authors.lastname: Qin
authors.forename: Yun
authors.initials: Y
authors.lastname: Yuan
authors.forename: Qing
authors.initials: Q
authors.lastname: Lin
authors.forename: Xiru
authors.initials: X
authors.lastname: Wu
mesh_terms: D000595:Amino Acid Sequence; D002648:Child; D002681:China; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics* / Q000276:immunology / Q000473:pathology*; D016057:Evoked Potentials, Auditory, Brain Stem; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009413:Nerve Fibers, Myelinated / Q000473:pathology*
chemical_list: D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human