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Journal of Neurology Neurosurgery and Psychiatry 2005;76:380-383
© 2005 BMJ Publishing Group Ltd


PAPER

Neuropsychiatric porphyria in patients with refractory epilepsy: report of three cases

A S Winkler1, T J Peters2, R D C Elwes3

1 Regional Movement Disorders and Autonomic Unit, King’s College Hospital, London, UK
2 Department of Clinical Biochemistry, King’s College Hospital, London, UK
3 The Centre for Epilepsy, King’s College Hospital, London, UK

Correspondence to:
Correspondence to:
Professor T J Peters
Dept of Clinical Biochemistry, King’s College Hospital, Denmark Hill, London SE5 9RS, UK; timothy.peters{at}kcl.ac.uk

Objectives: Although epileptic seizures are an infrequent feature of acute attacks of the neuropsychiatric porphyrias, there are no significant reports of porphyria in chronic epilepsy. This paper attempts to redress the balance.

Methods: Three case reports, including detailed laboratory and molecular diagnostics.

Results: Two patients with variegate porphyria and one with acute intermittent porphyria, referred within 1 year to a specialist porphyria service, with a long history of chronic refractory epileptic seizures, are described.

Conclusions: Porphyria may be an aetiological factor in some cases of chronic refractory partial or generalised epilepsy. Porphyria should also be considered if addition of a new anti-epileptic medication causes a major deterioration in the epilepsy.


Abbreviations: CT, computed tomography; EEG, electroencephalogram; GABA, {gamma}-aminobutyric acid; MRI, magnetic resonance imaging; PPOX, protoporphyrinogen oxidase

Keywords: epilepsy; neuropsychiatric porphyrias; refractory seizures




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[Abstract] [PDF]




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