title: Vasculitic neuropathy in a patient with hereditary C1 inhibitor deficiency.
abstract: OBJECTIVE
  To report the clinical, pathological, and mutational features of hereditary C1 inhibitor (C1INH) deficiency as a cause of isolated vasculitic neuropathy.
  
  
  METHODS
  A 35-year-old woman with sensorimotor mononeuritis multiplex and facial palsy.
  
  
  RESULTS
  The sural nerve biopsy results showed a decrease of myelinated fibers with axonal degeneration and severe hypersensitivity vasculitis, with deposition of C1q on vessel walls. Mutational analysis of the C1INH gene found a new mutation, a heterozygous 2-base pair deletion in exon 8. The patient was treated with plasmapheresis and intravenous methylprednisolone, followed by oral prednisolone, which resulted in marked improvement.
  
  
  CONCLUSIONS
  Hereditary C1INH deficiency should be included in the differential diagnosis of nonsystemic vasculitis neuropathy.
authors.affiliation: Division of Neurology, Department of Internal Medicine, Saga University Faculty of Medicine, Saga, Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Yakushiji
authors.forename: Haruo
authors.initials: H
authors.lastname: Mizuta
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Kurohara
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Onoue
authors.forename: Ryuichiro
authors.initials: R
authors.lastname: Okada
authors.forename: Toshiro
authors.initials: T
authors.lastname: Yoshimura
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Kuroda
mesh_terms: D000328:Adult; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D003174:Complement C1 Inactivator Proteins / Q000172:deficiency* / Q000235:genetics*; D050718:Complement C1 Inhibitor Protein; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D010956:Plasmapheresis / Q000379:methods; D011115:Polyneuropathies; D011239:Prednisolone / Q000627:therapeutic use; D015843:Serpins / Q000172:deficiency* / Q000235:genetics*; D014657:Vasculitis / Q000150:complications / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology
chemical_list: D000893:Anti-Inflammatory Agents; D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; C469952:SERPING1 protein, human; D015843:Serpins; D011239:Prednisolone