Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: Pitfalls and red flags

• DOI: 10.1111/jns.12362
• Publication Date: 2020-01-10T07:25:41Z
• Authors: Marta Campagnolo; Federica Taioli; Mario Cacciavillani; Marta Ruiz; Marco Luigetti; Alessandro Salval...; Francesca Castellani; Silvia Testi; Moreno Ferrarini; Tiziana Cavallaro; Roberto Gasparotti; Gian Maria Fabrizi; Chiara Briani
• Keywords: Polyradiculoneuropathy; Nerve biopsy; Magnetic resonance neurography

Abstract Hereditary neuropathies may be misdiagnosed with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). A correct diagnosis is crucial for avoiding unnecessary therapies and access genetic counseling. We report on nine patients (seven men, mean age 49.2 ± 16.1) diagnosed treated as CIDP, in whom mutations or variants of unknown significance (VUS) genes associated hereditary were reported. All underwent neurological neurophysiological examination, eight also cerebrospinal fluid (CSF) analysis. In 4/9, nerve ultrasound and/or MR‐neurography performed. the complained progressive upper lower limbs sensory‐motor symptoms, heterogeneous disease duration (1‐34 years, 8.6 10.8). Neurophysiology showed signs seven patients, mixed findings predominant axonal damage two patients. Neuroimaging disclosed diffuse abnormalities at proximal distal segments. Molecular screening PMP22 duplication MPZ , EGR2 GJB1 reported each remaining The had p.Val30Met mutation transthyretin gene. Two VUS MARS HSPB1 genes. Four partial response to immunomodulant therapies, CSF features suggesting an condition concomitant neuropathy. neuropathy CIDP. most common pitfalls are (high protein levels oligoclonal bands), incorrect interpretation neurophysiology, transient benefit from therapies. helpful cases atypical presentations when severe complicate interpretation.