Abstract: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 dele… Show more
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