Abstract | 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.
|
Authors | Yusuke Yakushiji, Haruo Mizuta, Kazuhiro Kurohara, Hiroyuki Onoue, Ryuichiro Okada, Toshiro Yoshimura, Yasuo Kuroda |
Journal | Archives of neurology
(Arch Neurol)
Vol. 64
Issue 5
Pg. 731-3
(May 2007)
ISSN: 0003-9942 [Print] United States |
PMID | 17502473
(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)
|