This Article  • Full text  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Diagnosis  • Neurogenetics  • Neurology, Other  • Cardiovascular System  • Cardiovascular Disease/ Myocardial Infarction  • Alert me on articles by topic

Yusuke Yakushiji, MD; Haruo Mizuta, MD; Kazuhiro Kurohara, MD; Hiroyuki Onoue, MD; Ryuichiro Okada, MD; Toshiro Yoshimura, MD; Yasuo Kuroda, MD

Arch Neurol. 2007;64(5):731-733.

Objective  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.

Author Affiliations: Division of Neurology, Department of Internal Medicine, Saga University Faculty of Medicine, Saga (Drs Yakushiji, Mizuta, Kurohara, Onoue, Okada, and Kuroda); and Department of Physical Therapy, Nagasaki University School of Health Sciences, Nagasaki (Dr Yoshimura), Japan.