Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice Guidelines

Korinthenberg R, Trollmann R, Plecko B, Stettner GM, Blankenburg M, Weis J, Schoser B, Mueller-Felber W, Lochbuehler N, Hahn G, Rudnik-Schoeneborn S (2021)

Publication Type: Journal article, Review article

Publication year: 2021

Journal

Children MDPI

Book Volume: 8

Journal Issue: 8

DOI: 10.3390/children8080687

Abstract

Disorders of the peripheral nerves can be caused by a broad spectrum of acquired or hereditary aetiologies. The objective of these practice guidelines is to provide the reader with information about the differential diagnostic workup for a target-oriented diagnosis. Following an initiative of the German-speaking Society of Neuropaediatrics, delegates from 10 German societies dedicated to neuroscience worked in close co-operation to write this guideline. Applying the Delphi methodology, the authors carried out a formal consensus process to develop practice recommendations. These covered the important diagnostic steps both for acquired neuropathies (traumatic, infectious, inflammatory) and the spectrum of hereditary Charcot-Marie-Tooth (CMT) diseases. Some of our most important recommendations are that: (i) The indication for further diagnostics must be based on the patient's history and clinical findings; (ii) Potential toxic neuropathy also has to be considered; (iii) For focal and regional neuropathies of unknown aetiology, nerve sonography and MRI should be performed; and (iv) For demyelinated hereditary neuropathy, genetic diagnostics should first address PMP22 gene deletion: once that has been excluded, massive parallel sequencing including an analysis of relevant CMT-genes should be performed. This article contains a short version of the guidelines. The full-length text (in German) can be found at the Website of the "Arbeitsgemeinschaft der Wissenschftlichen Medizinischen Fachgesellschaften e.V. (AWMF), Germany.

Authors with CRIS profile

Regina Trollmann Professur für Kinder- u. Jugendmedizin Schwerpunkt Neuropädiatrie

Involved external institutions

Albert-Ludwigs-Universität Freiburg DE Germany (DE) University of Zurich / Universität Zürich (UZH) CH Switzerland (CH) Karl-Olga-Krankenhaus DE Germany (DE) Universitätsklinikum Aachen (UKA) DE Germany (DE) Ludwig-Maximilians-Universität (LMU) DE Germany (DE) Technische Universität Dresden DE Germany (DE) Medizinische Universität Innsbruck AT Austria (AT)

How to cite

APA:

Korinthenberg, R., Trollmann, R., Plecko, B., Stettner, G.M., Blankenburg, M., Weis, J.,... Rudnik-Schoeneborn, S. (2021). Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice Guidelines. Children, 8(8). https://doi.org/10.3390/children8080687

MLA:

Korinthenberg, Rudolf, et al. "Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice Guidelines." Children 8.8 (2021).

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