Objectives: Although epileptic seizures are an infrequent feature of acute att acks of the neuropsychiatric porphyrias, there are no significant reports of por phyria in chronic epilepsy. This paper attempts to redres...Objectives: Although epileptic seizures are an infrequent feature of acute att acks of the neuropsychiatric porphyrias, there are no significant reports of por phyria in chronic epilepsy. This paper attempts to redress the balance. Methods: Three case reports,including detailed laboratory and molecular diagnostics.Resu lts: Two patients with variegate porphyria and one with acute intermittent porph yria, referred within 1 year to a specialist porphyria service, with a long hist ory of chronic refractory epileptic seizures, are described. Conclusions: Porphy ria maybe an aetiological factor in some cases of chronic refractory partial or generalised epilepsy. Porphyria should also be considered if addition of a new a nti-epileptic medication causes a major deterioration in the epilepsy.展开更多
文摘Objectives: Although epileptic seizures are an infrequent feature of acute att acks of the neuropsychiatric porphyrias, there are no significant reports of por phyria in chronic epilepsy. This paper attempts to redress the balance. Methods: Three case reports,including detailed laboratory and molecular diagnostics.Resu lts: Two patients with variegate porphyria and one with acute intermittent porph yria, referred within 1 year to a specialist porphyria service, with a long hist ory of chronic refractory epileptic seizures, are described. Conclusions: Porphy ria maybe an aetiological factor in some cases of chronic refractory partial or generalised epilepsy. Porphyria should also be considered if addition of a new a nti-epileptic medication causes a major deterioration in the epilepsy.
