Spontaneous primary pneumothorax as a complication of neurofibromatosis type 1
  • Mariana Guerra
    Department of Internal Medicine, Hospital and University Centre of Coimbra, Coimbra, Portugal
  • Inês Farinha
    Department of Pulmonology, Hospital and University Centre of Coimbra, Coimbra, Portugal
  • Daniela Marado
    Department of Internal Medicine, Hospital and University Centre of Coimbra, Coimbra, Portugal

Keywords

Pneumothorax, Neurofibromatosis type 1, Bullous lung disease

Abstract

Neurofibromatosis type 1 (NF1) is a genetic disorder that affects the skin and the neurological, ocular and skeletal systems. Many are unaware of the extent of pulmonary involvement, including lung cysts and emphysematous bullae, which enhances the risk of secondary spontaneous pneumothorax (SSP). We report the case of an 18-year-old male with NF1 who presented with acute dyspnoea and chest pain due to a right-sided pneumothorax caused by the rupture of lung apical bullae. The patient received supplemental oxygen and a chest tube of 18F was inserted, with a complete resolution of the pneumothorax. He was discharged on the third day of hospital stay.
This case highlights the importance of considering SSP as a possible clinical manifestation and complication of NF1. Early recognition and appropriate management of this condition can prevent serious complications and improve patient outcomes.

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    Published: 2023-10-09
    Issue: 2023: Vol 10 No 11 (view)

    How to cite:
    1.
    Guerra M, Farinha I, Marado D. Spontaneous primary pneumothorax as a complication of neurofibromatosis type 1. EJCRIM 2023;10 doi:10.12890/2023_004046.