Neurological complications of porphyria

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
C Solinas, F J E Vajda

Abstract

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.

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Citations

May 30, 2009·Internal and Emergency Medicine·Paolo VenturaEmilio Rocchi
Oct 3, 2013·Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society·Roland FaiglePeter W Kaplan
Oct 12, 2011·European Neurology·Hung-Chou KuoChih-Yang Liu
May 9, 2014·European Journal of Internal Medicine·Paolo VenturaUNKNOWN Gruppo Italiano Porfiria (GrIP)
Aug 23, 2011·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·Cindy S-Y LinMatthew C Kiernan
Apr 24, 2012·European Journal of Clinical Investigation·Luis García-DizAntonia M Jiménez-Monreal
Aug 25, 2016·Indian Journal of Critical Care Medicine : Peer-reviewed, Official Publication of Indian Society of Critical Care Medicine·Chhaya DivechaChandrahas T Deshmukh
Aug 11, 2021·Journal of the Neurological Sciences·Miguel Oliveira Santos, Miguel Leal Rato

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