German recommendations for the diagnosis of hereditary or acquired neuropathies in pediatrics

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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).

 

Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice Guidelines. Korinthenberg R, Trollmann R, Plecko B et al. Children (Basel). 2021 (Août). 8(8):687.

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