Hypotonia: A Clinical Sign, Different Etiologies

Date of submission: 02-10-2019 | Date of acceptance: 06-02-2020 | Published: 01-07-2020

Authors

  • Ana Sofia Esteireiro Center for Child Development, Neuropediatrics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal / Pediatrics Department, Hospital das Caldas da Rainha, Centro Hospitalar do Oeste, Caldas da Rainha, Portugal
  • Catarina Abreu Amaro Center for Child Development, Neuropediatrics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal / Pediatrics Department, Centro Hospitalar da Cova da Beira, Covilhã, Portugal https://orcid.org/0000-0002-1587-1154
  • Pedro Barradas Center for Child Development, Neuropediatrics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal / Neuroradiology Department, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal https://orcid.org/0000-0002-1693-5770
  • Filipe Palavra Center for Child Development, Neuropediatrics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal / Coimbra Institute for Clinical and Biomedical Research, Faculty of Medicine, Coimbra University, Coimbra, Portugal / Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal https://orcid.org/0000-0002-2165-130X
  • Isabel Fineza Center for Child Development, Neuropediatrics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal https://orcid.org/0000-0002-4738-4967

DOI:

https://doi.org/10.25754/pjp.2020.18651

Abstract

Hypotonia is a nonspecific sign with many possible underlying aetiologies. The clinical history and neurological examination are vital, providing clues to a methodical and systematic investigation. It is essential to accomplish an early etiological diagnosis to implement adequate therapy (when available), establish prognosis and offer genetic counselling.  The authors present two clinical cases that reflect the diagnostic challenge in evaluating a newborn or infant with hypotonia.

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Published

2020-07-09

Issue

Vol. 51 No. 3 (2020)

Section

Case reports

License

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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