The aim of this study was to evaluate and describe the importance of neurological complications in patients with a confirmed diagnosis of porphyria. Clinical details are presented for a cohort of 14 patients who presented with one of four categories of symptoms: seizures, polyneuropathy, transient sensory-motor symptoms and cognitive or behavioural abnormalities. Ascertainment of porphyria was often incidental and in many patients neurological complications preceded the definitive biochemical diagnosis. Porphyria is a group of diseases whose clinical picture is often complex and heterogeneous, but neurological complications are not uncommon. When indicated, differential diagnosis of neurological signs and symptoms should include porphyria, as the incidence of the disease is probably underestimated. Part of the clinical picture can be transient and it is often initially disregarded. A family history and recurrence of otherwise unexplained neurological symptoms should alert the clinician to a possible diagnosis of porphyria for patients with neurological presentations.
Adolescent Adult