A 3-Year-Old Girl With a Mediastinal Mass

Chest. 2019 Jan;155(1):e13-e16. doi: 10.1016/j.chest.2018.07.042.

Abstract

A 3-year-old girl was referred to a pediatric pulmonologist for dyspnea and recurrent upper respiratory tract infections (RTIs). The patient was born full term to unrelated Dutch parents after an uneventful pregnancy and birth. The year before presentation, she had suffered from pneumonia and > 10 upper RTIs. Apart from the recurrent RTIs, which started in infancy, her medical history was not significant and did not include allergies or eczema. An adenotonsillectomy was performed at the age of 2 years, and she was treated with multiple antibiotic regimens and inhalation therapy with salbutamol and corticosteroids, with no relief of symptoms.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Class I Phosphatidylinositol 3-Kinases / genetics*
  • Class I Phosphatidylinositol 3-Kinases / metabolism
  • DNA / genetics*
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Humans
  • Lymphadenopathy / diagnosis*
  • Lymphadenopathy / genetics
  • Lymphadenopathy / metabolism
  • Mediastinum / diagnostic imaging*
  • Mutation*
  • Syndrome
  • Tomography, X-Ray Computed

Substances

  • DNA
  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CD protein, human