Author/Authors :
Xinhua Bao، نويسنده , , Bang Ye Wu، نويسنده , , Lee-Jun C. Wong، نويسنده , , Yuehua Zhang، نويسنده , , Hui Xiong، نويسنده , , Ping-Chieh Chou، نويسنده , , Cavatina K. Truong، نويسنده , , Yuwu Jiang، نويسنده , , Jiong Qin، نويسنده , , Yun Yuan، نويسنده , , Qing Lin Liu، نويسنده , , Xiru Wu، نويسنده ,
Abstract :
Alpers syndrome is a fatal neurogenetic disorder caused by the mutations in POLG1 gene encoding the mitochondrial DNA polymerase γ (polγ). 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.
