Alpers syndrome with prominent white matter changes.
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.
Bao
Xinhua
X
Department of Pediatrics, Peking University First Hospital, Beijing, China. zwhang@pku.edu.cn
Wu
Ye
Y
Wong
Lee-Jun C
LJ
Zhang
Yuehua
Y
Xiong
Hui
H
Chou
Ping-Chieh
PC
Truong
Cavatina K
CK
Jiang
Yuwu
Y
Qin
Jiong
J
Yuan
Yun
Y
Lin
Qing
Q
Wu
Xiru
X
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*
D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human