Neurological and neuropsychiatric manifestations of porphyria. (2nd December 2019)

• Record Type: Journal Article
• Authors: Suh, Yiji; Gandhi, Jason; Seyam, Omar; Jiang, Wendy; Joshi, Gunjan; Smith, Noel L.; Ali Khan, Sardar
• Is Part Of: International journal of neuroscience. Volume 129:Number 12(2019)
• Page Start: 1226
• Page End: 1233
• Publication Date: 2019-12-02
• Subjects: Porphyria -- neurology -- psychiatry -- neurovisceral porphyria; Nervous system -- Periodicals; 612.805
• DOI: 10.1080/00207454.2019.1655014
• Languages: English
• ISSNs: 0020-7454

Abstract

Abstract: Porphyrias are inherited disorders of the heme biosynthetic pathway, usually characterized by dermatological changes due to the accumulation of byproducts in the pathway. Select porphyrias also affect the nervous system, namely hereditary coproporphyria, acute intermittent porphyria and variegate porphyria. Complications include paralysis, hyponatremia which can risk central pontine myelinolysis, seizures and coma. Neurological complications usually result from severe episodes of acute attacks. Acute attacks may also elicit neuropsychiatric symptoms such as confusion, hallucinations, anxiety and psychosis. However, these manifestations are generally self-limiting. Due to the generally low incidence of porphyria and full knowledge the associated neurological and psychiatric manifestations, we review the relevant porphyrias along with their clinical manifestations, evaluation, and management to raise its awareness in the clinical picture and to prevent misdiagnosis. Porphyria should be considered within the differential diagnosis for unexplained neurological symptoms.