The heterogeneity of the etiologies to be sought is so wide that the diagnosis of neuropathy in a child or adolescent is not always easy. This led a consortium of German-speaking neuropediatricians to establish good practice recommendations emphasizing the following points:
- the study of the history and the clinical examination remain essential,
- the hypothesis of a toxic origin must always be kept in mind,
- for more focal neuropathies, the use of imaging of the nerves and plexuses should be broad,
- for hereditary neuropathies, in particular demyelinating neuropathies, the search for a duplication of the PMP22 gene is necessary before testing the other genes in high-throughput sequencing (NGS).
