Clinical and Pathological Features of Alpers Syndrome and Gene Mutational Analysis / 实用儿科临床杂志

ABSTRACT

A(p.G888S)were detected in POLG1 gene.Sequence analysis of parental blood DNA revealed that her father carried L83P and her mother carried G888S.Conclusions The characteristics of clinical manifestation,electrophysiology,pathology and POLG1 gene mutation of the patient were highly consistent with Alpers syndrome.The prominent white matter change and increased immunological factors in CSF were first reported in Alpers syndrome.Alpers syndrome should be considered for those patients whose liver function were severely impaired after exposure to valproic acid.