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Vasculitic neuropathy in a patient with hereditary C1 inhibitor deficiency.

AbstractOBJECTIVE:
To report the clinical, pathological, and mutational features of hereditary C1 inhibitor (C1INH) deficiency as a cause of isolated vasculitic neuropathy.
PATIENT:
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.
CONCLUSION:
Hereditary C1INH deficiency should be included in the differential diagnosis of nonsystemic vasculitis neuropathy.
AuthorsYusuke Yakushiji, Haruo Mizuta, Kazuhiro Kurohara, Hiroyuki Onoue, Ryuichiro Okada, Toshiro Yoshimura, Yasuo Kuroda
JournalArchives of neurology (Arch Neurol) Vol. 64 Issue 5 Pg. 731-3 (May 2007) ISSN: 0003-9942 [Print] United States
PMID17502473 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Anti-Inflammatory Agents
  • Complement C1 Inactivator Proteins
  • Complement C1 Inhibitor Protein
  • SERPING1 protein, human
  • Serpins
  • Prednisolone
Topics
  • Adult
  • Anti-Inflammatory Agents (therapeutic use)
  • Complement C1 Inactivator Proteins (deficiency, genetics)
  • Complement C1 Inhibitor Protein
  • Exons (genetics)
  • Female
  • Gene Deletion
  • Humans
  • Plasmapheresis (methods)
  • Polyneuropathies
  • Prednisolone (therapeutic use)
  • Serpins (deficiency, genetics)
  • Vasculitis (complications, drug therapy, genetics, pathology)

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