title: Reversible MRI findings in a case of acute intermittent porphyria with a novel mutation in the porphobilinogen deaminase gene.
abstract: Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme in the of heme biosynthetic pathway. 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. Establishing accurate diagnoses of the patient and asymptomatic family members with AIP involves identifying the PBGD enzyme mutations directly. In this study, we report a 28-year-old woman with acute intermittent porphyria who presented with radiological manifestations suggestive of posterior reversible encephalopathy syndrome, she had a novel PBGD frame shift mutation, base 875 and 876 have been deleted resulting in glutamine to a stop codon (Gln292fs), in a Chinese family.
authors.affiliation: Emergency Department, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Yang
authors.affiliation: State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
authors.forename: Hang
authors.initials: H
authors.lastname: Yang
authors.affiliation: State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
authors.forename: Qianlong
authors.initials: Q
authors.lastname: Chen
authors.affiliation: Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
authors.forename: Baolai
authors.initials: B
authors.lastname: Hua
authors.affiliation: Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
authors.forename: Tienan
authors.initials: T
authors.lastname: Zhu
authors.affiliation: Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
authors.forename: Yongqiang
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: Emergency Department, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
authors.forename: Xuezhong
authors.initials: X
authors.lastname: Yu
authors.affiliation: Emergency Department, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China. Electronic address: huadongzhu@hotmail.com.
authors.forename: Huadong
authors.initials: H
authors.lastname: Zhu
authors.affiliation: State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
authors.forename: Zhou
authors.initials: Z
authors.lastname: Zhou
mesh_terms: D000328:Adult; D044466:Asian People; D018388:Codon, Terminator; D003937:Diagnosis, Differential; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D017118:Porphyria, Acute Intermittent / Q000000981:diagnostic imaging / Q000235:genetics*; D054038:Posterior Leukoencephalopathy Syndrome / Q000175:diagnosis / Q000473:pathology
chemical_list: D018388:Codon, Terminator; D011163:Hydroxymethylbilane Synthase
keywords: Acute porphyria; Gene mutation; Posterior reversible encephalopathy syndrome