%0 Case Reports
%T Rolandic Epilepsy as a Heralding Manifestation of Wilson Disease in a 6-Year-Old Girl.
%A Devarbhavi H
%J J Clin Exp Hepatol
%V 10
%N 6
%D Nov-Dec 2020
%M 33311898
暂无%R 10.1016/j.jceh.2020.04.007
%X <B>UNASSIGNED: </B>Wilson disease (WD) manifesting as seizure is rare. Rolandic epilepsy as presenting feature of WD has been reported only once before.<BR><B>UNASSIGNED: </B>A 6-year-old girl of nonconsanguineous parentage presented with focal seizures. There was associated fatty hepatomegaly and elevated aminotransferases.<BR><B>UNASSIGNED: </B>Brain magnetic resonance imaging (MRI) was unremarkable. Electroencephalogram demonstrated bilateral centrotemporal spike classical of Rolandic epilepsy. Serum ceruloplasmin was low and 24-h urinary copper levels were elevated. Genetic mutational analysis showed she carried the rare homozygous p.Asn1270Ser genetic mutation. Administration of d-penicillamine gradually halted seizure activity together with near normalization of serum aminotransferases.<BR><B>UNASSIGNED: </B>Rolandic epilepsy associated with elevated liver enzymes should undergo evaluation for WD. Chelators have a salutary effect on seizure activity, as well as elevated serum aminotransferases.