title: Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome and lateralized periodic discharges plus fast activity on EEG.
abstract: We report on a 20-year-old patient with a 6-month history of recurrent abdominal pain and a 3-day history of vomiting, hypertension, seizures, and encephalopathy. The brain MRI showed posterior reversible encephalopathy syndrome, and continuous EEG (cEEG) monitoring showed lateralized periodic discharges plus fast activity. Comprehensive CSF studies were negative. Because of severe abdominal pain without a definite etiology, we requested urine porphobilinogen and serum and fecal porphyrins, which suggested acute intermittent porphyria (AIP). The patient had a complete resolution of her symptoms with carbohydrate loading and high caloric diet. Acute intermittent porphyria is potentially life-threatening without proper management and prevention of triggers if it is not recognized.
authors.affiliation: JFK Neuroscience Institute and Seton Hall University of Health and Medical Sciences, 65 James Street, Edison, NJ 08820, United States.
authors.forename: Diosely C
authors.initials: DC
authors.lastname: Silveira
authors.affiliation: JFK Neuroscience Institute and Seton Hall University of Health and Medical Sciences, 65 James Street, Edison, NJ 08820, United States.
authors.forename: Mahrukh
authors.initials: M
authors.lastname: Bashir
authors.affiliation: JFK Neuroscience Institute and Seton Hall University of Health and Medical Sciences, 65 James Street, Edison, NJ 08820, United States.
authors.forename: Joshua
authors.initials: J
authors.lastname: Daniel
authors.affiliation: Prefeitura Municipal de Curitiba, Secretaria de Saúde, Brazil.
authors.forename: Michelle H
authors.initials: MH
authors.lastname: Lucena
authors.affiliation: JFK Neuroscience Institute and Seton Hall University of Health and Medical Sciences, 65 James Street, Edison, NJ 08820, United States.
authors.forename: Frank
authors.initials: F
authors.lastname: Bonpietro
keywords: LPDs; PRES; Porphyria; Seizures