Vasculitic neuropathy in a patient with hereditary C1 inhibitor deficiency.
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.
Yakushiji
Yusuke
Y
Division of Neurology, Department of Internal Medicine, Saga University Faculty of Medicine, Saga, Japan.
Mizuta
Haruo
H
Kurohara
Kazuhiro
K
Onoue
Hiroyuki
H
Okada
Ryuichiro
R
Yoshimura
Toshiro
T
Kuroda
Yasuo
Y
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
D000893:Anti-Inflammatory Agents; D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; C469952:SERPING1 protein, human; D015843:Serpins; D011239:Prednisolone