title: Posterior reversible encephalopathy syndrome in acute intermittent porphyria.
abstract: BACKGROUND
  Acute intermittent porphyria is an inherited disease that is rarely diagnosed in prepubertal children. It can affect the autonomic, peripheral, and central nervous system. Posterior reversible encephalopathy syndrome is a clinicoradiological entity characterized by headache, seizures, altered consciousness, and visual disorder associated with potentially reversible neuroradiological abnormalities predominantly in the parieto-occipital lobes. We report a child with acute intermittent porphyria who presented with radiological manifestations suggestive of posterior reversible encephalopathy syndrome.
  
  
  METHODS
  A 9-year-old girl underwent an appendectomy after developing abdominal pain. She subsequently developed bilateral visual disturbance, confusion, seizures, hypertension, tachycardia, nausea, vomiting, constipation, dark tea-colored urine, and recurrent abdominal pain.
  
  
  RESULTS
  Initial brain magnetic resonance imaging revealed hyperintense gyriform lesions on T2-weighted images and hypointense to isointense lesions on T1-weighted images in both parieto-occipital lobes with mild enhancement. The diagnosis of acute intermittent porphyria was confirmed by increased urinary excretion of porphyrin precursors. Her clinical signs gradually improved after intravenous high-dose glucose treatment and symptomatic therapies. A repeat magnetic resonance imaging confirmed complete resolution of the parieto-occipital lesions, suggesting with posterior reversible encephalopathy syndrome.
  
  
  CONCLUSIONS
  The association of abdominal pain, mental status changes, and autonomic dysfunction should arouse the suspicion of acute intermittent porphyria. Acute intermittent porphyria can be associated with posterior reversible encephalopathy syndrome.
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.
authors.forename: Bi
authors.initials: B
authors.lastname: Zhao
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.
authors.forename: QianQian
authors.initials: Q
authors.lastname: Wei
authors.affiliation: Department of Radiology, Chengdu First People's Hospital, Chengdu, Sichuan Province, China.
authors.forename: YunHan
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.
authors.forename: YongPing
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China. Electronic address: hfshang2002@126.com.
authors.forename: HuiFang
authors.initials: H
authors.lastname: Shang
mesh_terms: D001921:Brain / Q000473:pathology; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D017118:Porphyria, Acute Intermittent / Q000175:diagnosis / Q000473:pathology* / Q000628:therapy / Q000652:urine; D054038:Posterior Leukoencephalopathy Syndrome / Q000175:diagnosis / Q000473:pathology* / Q000628:therapy
keywords: abdominal pain; acute intermittent porphyria; magnetic resonance imaging; posterior reversible encephalopathy syndrome