Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: Pitfalls and red flags.
Adult
Aged
Diagnostic Errors
Female
Hereditary Sensory and Motor Neuropathy
/ cerebrospinal fluid
Humans
Immunologic Factors
/ pharmacology
Magnetic Resonance Imaging
Male
Middle Aged
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
/ cerebrospinal fluid
Practice Guidelines as Topic
Ultrasonography
CIDP
cerebrospinal fluid
hereditary neuropathy
immunomodulatory therapies
nerve ultrasound
Journal
Journal of the peripheral nervous system : JPNS
ISSN: 1529-8027
Titre abrégé: J Peripher Nerv Syst
Pays: United States
ID NLM: 9704532
Informations de publication
Date de publication:
03 2020
03 2020
Historique:
received:
12
11
2019
revised:
31
12
2019
accepted:
03
01
2020
pubmed:
11
1
2020
medline:
20
5
2021
entrez:
11
1
2020
Statut:
ppublish
Résumé
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 with and treated as CIDP, in whom mutations or variants of unknown significance (VUS) in genes associated with hereditary neuropathies were reported. All underwent neurological and neurophysiological examination, eight also cerebrospinal fluid (CSF) analysis. In 4/9, nerve ultrasound and/or MR-neurography were performed. All the patients complained of progressive upper or lower limbs sensory-motor symptoms, with heterogeneous disease duration (1-34 years, mean 8.6 ± 10.8). Neurophysiology showed demyelinating signs in seven patients, mixed findings with predominant axonal damage in two patients. Neuroimaging disclosed diffuse abnormalities at proximal and distal segments. Molecular screening showed PMP22 duplication in two patients, mutations in the MPZ, EGR2, and GJB1 genes were reported in each of the remaining patients. The two patients with mixed neurophysiological findings had p.Val30Met mutation in the transthyretin gene. Two patients had VUS in the MARS and HSPB1 genes. Four patients had partial response to immunomodulant therapies, and CSF and neurophysiological features suggesting an inflammatory condition concomitant with the hereditary neuropathy. Hereditary neuropathy may be misdiagnosed with CIDP. The most common pitfalls are CSF (high protein levels and oligoclonal bands), incorrect interpretation of neurophysiology, and transient benefit from therapies. Neuroimaging may be helpful in cases with atypical presentations or when severe axonal damage complicate the neurophysiological interpretation.
Substances chimiques
Immunologic Factors
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
19-26Informations de copyright
© 2020 Peripheral Nerve Society.
Références
Gorson KC, Gooch CL. The (mis)diagnosis of CIDP: the high price of missing the mark. Neurology. 2015;85:488-489.
Van den Bergh PY, Hadden RD, Bouche P, et al. European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society - first revision. Eur J Neurol. 2010;17:356-363.
Gasparotti R, Padua L, Briani C, Lauria G. New technologies for the assessment of neuropathies. Nat Rev Neurol. 2017;13:203-216.
Graham RC, Hughes RA. A modified peripheral neuropathy scale: the Overall Neuropathy Limitations Scale. J Neurol Neurosurg Psychiatry. 2006;77:973-976.
Padua L, Coraci D, Lucchetta M, et al. Different nerve ultrasound patterns in Charcot-Marie-Tooth types and hereditary neuropathy with liability to pressure palsies. Muscle Nerve. 2018;57:18-23.
Allen JA, Lewis RA. CIDP diagnostic pitfalls and perception of treatment benefit. Neurology. 2015;85:498-504.
Lewis RA. Chronic inflammatory demyelinating polyneuropathy. Curr Opin Neurol. 2017;30:508-512.
Pareyson D. Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies. Neurol Sci. 2004;25:72-82.
Michell AW, Laura M, Blake J, et al. GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment. J Neurol Neurosurg Psychiatry. 2009;80:699-700.
Ciotti P, Luigetti M, Geroldi A, et al. A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. J Neurol Sci. 2014;343:183-186.
Hu B, McCollum M, Ravi V, et al. Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination. Ann Neurol. 2018;83:756-770.
Koike H, Hashimoto R, Tomita M, et al. Diagnosis of sporadic transthyretin Val30Met familial amyloid polyneuropathy: a practical analysis. Amyloid. 2011;18:53-62.
Luigetti M, Conte A, Del Grande A, et al. TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients. Neurol Sci. 2013;34:1057-1063.
Mathis S, Magy L, Diallo L, Boukhris S, Vallat JM. Amyloid neuropathy mimicking chronic inflammatory demyelinating polyneuropathy. Muscle Nerve. 2012;45:26-31.
Plantè-Bordeneuve V, Ferreira A, Lalu T, et al. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology. 2007;69:693-698.
Cortese A, Vegezzi E, Lozza A, et al. Diagnostic challenges in hereditary transthyretin amyloidosis with polyneuropathy: avoiding misdiagnosis of a treatable hereditary neuropathy. J Neurol Neurosurg Psychiatry. 2017;88:457-458.
Cappellari M, Cavallaro T, Ferrarini M, et al. Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. J Peripher Nerv Syst. 2011;16:119-129.
Lozeron P, Mariani LL, Dodet P, et al. Transthyretin amyloid polyneuropathies mimicking a demyelinating polyneuropathy. Neurology. 2018;91:143-152.
Pitarokoili K, Kronlage M, Baumer P, et al. High-resolution nerve ultrasound and magnetic resonance neurography as complementary neuroimaging tools for chronic inflammatory demyelinating polyneuropathy. Ther Adv Neurol Disord. 2018;11:1756286418759974.
Bunschoten C, Jacobs BC, Van den Bergh PYK, et al. Progress in diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy. Lancet Neurol. 2019;18:784-794.
Goedee HS, Herraets IJT, Visser LH, et al. Nerve ultrasound can identify treatment-responsive chronic neuropathies without electrodiagnostic features of demyelination. Muscle Nerve. 2019;60:415-419.
Goedee HS, Jongbloed BA, van Asseldonk JH, et al. A comparative study of brachial plexus sonography and magnetic resonance imaging in chronic inflammatory demyelinating neuropathy and multifocal motor neuropathy. Eur J Neurol. 2017;24:1307-1313.
Goedee HS, van der Pol WL, van Asseldonk JH, et al. Diagnostic value of sonography in treatment-naive chronic inflammatory neuropathies. Neurology. 2017;88:143-151.
Gasparotti R, Lucchetta M, Cacciavillani M, et al. Neuroimaging in diagnosis of atypical polyradiculoneuropathies: report of three cases and review of the literature. J Neurol. 2015;262:1714-1723.
Pareyson D, Testa D, Morbin M, et al. Does CMT1A homozygosity cause more severe disease with root hypertrophy and higher CSF proteins? Neurology. 2003;60:1721-1722.
Ouvrier RA, McLeod JG, Conchin TE. The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. Brain. 1987;110:121-148.
Rajabally YA, Adams D, Latour P, Attarian S. Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses. J Neur Neurosurg Psychiatry. 2016;87:1051-1060.
Dalakas M, Houff SA, Engel WK, et al. CSF “monoclonal” bands in chronic relapsing polyneuropathy. Neurology. 1980;30:864-867.
Briani C, Brannagan TH 3rd, Trojaborg W, Latov N. Chronic inflammatory demyelinating polyneuropathy. Neuromuscul Disord. 1996;6:311-325.
Mitchell GW, Bosch EP, Hart MN. Response to immunosuppressive therapy in patients with hereditary motor and sensory neuropathy and associated dysimmune neuromuscular disorders. Eur Neurol. 1987;27:188-196.
Neligan A, Reilly MM, Lunn MP. CIDP: mimics and chameleons. Pract Neurol. 2014;14:399-408.
Nakai Y, Okumura A, Takada H, et al. Inflammatory pathological changes in a 2-year-old boy with Charcot-Marie-Tooth disease. Brain&Development. 2001;23:258-260.
Vital A, Vital C, Lagueny A, et al. Inflammatory demyelination in a patient with CMT1A. Muscle Nerve. 2003;28:373-376.
Martini R, Toyka KV. Immune-mediated components of hereditary demyelinating neuropathies: lessons from animal models and patients. Lancet Neurol. 2004;3:457-465.