Journal of clinical and experimental hepatology · 2020
Rolandic Epilepsy as a Heralding Manifestation of Wilson Disease in a 6-Year-Old Girl.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Devarbhavi Harshad
Аннотация
OBJECTIVE: Wilson disease (WD) manifesting as seizure is rare. Rolandic epilepsy as presenting feature of WD has been reported only once before.
METHODS: A 6-year-old girl of nonconsanguineous parentage presented with focal seizures. There was associated fatty hepatomegaly and elevated aminotransferases.
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: A 6-year-old girl of nonconsanguineous parentage presented with focal seizures. There was associated fatty hepatomegaly and elevated aminotransferases.
RESULTS: 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.
CONCLUSIONS: 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.