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Neuropsychiatric porphyria in patients with refractory epilepsy: report of three cases
  1. A S Winkler1,
  2. T J Peters2,
  3. R D C Elwes3
  1. 1Regional Movement Disorders and Autonomic Unit, King’s College Hospital, London, UK
  2. 2Department of Clinical Biochemistry, King’s College Hospital, London, UK
  3. 3The Centre for Epilepsy, King’s College Hospital, London, UK
  1. Correspondence to:
 Professor T J Peters
 Dept of Clinical Biochemistry, King’s College Hospital, Denmark Hill, London SE5 9RS, UK; timothy.peterskcl.ac.uk

Abstract

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.

  • CT, computed tomography
  • EEG, electroencephalogram
  • GABA, γ-aminobutyric acid
  • MRI, magnetic resonance imaging
  • PPOX, protoporphyrinogen oxidase
  • epilepsy
  • neuropsychiatric porphyrias
  • refractory seizures

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Footnotes

  • Competing interests: none declared