Winkler AS1, Peters TJ2, Elwes RDC1
1King's College Hospital, 2King's College, London, UK
Acute symptomatic seizures are a well recognised symptom of acute porphyria in relapse. We report three patients with a long history of chronic refractory epileptic seizures who were subsequently found to suffer from one of the neuropsychiatric porphyrias. Patient 1 had an eight-year history of seizures since the age of 12, probably due to primary generalised epilepsy. Past medical history showed chronic constipation requiring enemas. The seizure frequency increased despite high doses of Sodium Valproate and the patient developed abdominal pains when Lamotrigine was added which caused a marked worsening of the seizures. A diagnosis of acute intermittent porphyria was established. Patient 2 had a three-year history of intractable generalised convulsions. Carbamazepine and Phenytoin were unable to control the seizures. Blood tests showed abnormal liver toxicity tests and hyponatraemia. Revisiting her medical history she admitted to frequent abdominal pains with constipation and sun sensitive skin. The patient was found to suffer from variegate porphyria. Patient 3 had an 18-year history of mainly simple partial sensory and motor seizures and then atonic seizures. She was unsuccessfully tried on a variety of anti-epileptic drugs and after starting Topiramate developed an acute neurological disorder with reduced level of consciousness, bulbar disturbance, an asymmetric spastic quadriparesis, negative imaging with only partial recovery. At this time her urine was noted to be dark and a diagnosis of variegate porphyria was established. 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 antiepileptic medication causes a major deterioration in epilepsy.