Related Experiment Video
Updated: Jul 14, 2026

Nerve Ultrasound Protocol to Detect Dysimmune Neuropathies
Published on: October 7, 2021
Vasculitic neuropathy in a patient with hereditary C1 inhibitor deficiency
Yusuke Yakushiji1, Haruo Mizuta, Kazuhiro Kurohara
1Division of Neurology, Department of Internal Medicine, Saga University Faculty of Medicine, Saga, Japan.
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.
Related Concept Videos
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
Diabetic Neuropathy
Peripheral Artery Disease IV: Nursing Management
Cytotoxic Edema: Pathophysiology
Peripheral Artery Disease I: Introduction
Endocarditis II: Clinical Features of Infective Endocarditis