Advances in Laboratory Medicine (Feb 2024)

Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report

  • Saiz-Sierra Leire,
  • Marull Arnall Anna,
  • Nieto-Moragas Javier,
  • Deulofeu Meritxell,
  • Jiménez Romero Orlando,
  • Mademont Irene,
  • Obón Ferrer María,
  • Serrando Querol María Teresa

DOI
https://doi.org/10.1515/almed-2023-0136
Journal volume & issue
Vol. 5, no. 2
pp. 221 – 225

Abstract

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Giant inclusions in leukocytes is a common feature that can be observed in some infections but can be also related to rare genetic disorders such as Chédiak-Higashi syndrome (CHS). A differential diagnosis between these groups of diseases has to be performed using specific genetic tests. Clinical and pathological history is relevant for a diagnostic orientation due to the difficulty and specificity of the diagnostic confirmation.

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