Pulmonary changes in a man affected by von Recklinghausen's disease

Monaldi Arch Chest Dis. 1996 Apr;51(2):123-4.

Abstract

Lung involvement in von Recklinghausen's disease is very rare and only sporadic cases have been reported in the literature. We present the case of a man affected by neurofibromatosis type 1 (NF1). The man complained of shortness of breath of 3-4 years duration. Chest radiograph and computed tomographic (CT) scan showed the presence of severe bullous emphysema, with extensive widespread bulky subpleural bullae, involving mainly the upper lobes and apical segments of the lower lobes, bilaterally. Functional respiratory tests documented a picture of severe obstruction associated with marked alveolar hyperinflation (vital capacity (VC) 80% of predicted, forced expiratory volume in one second (FEV1) 49% pred, maximal mid-expiratory flow (MMEF) 22% pred, residual volume (RV) 151% pred). Capillary alveolar diffusion was also markedly altered (transfer factor of the lungs for carbon monoxide (TL,co) 41% pred). The eventual prospect of a lung transplant, never previously considered for this disease, has been advised by the thoracic surgeons. In the light of this possibility, multidisciplinary assessment and monitoring of respiratory function over time are indispensable, in order to identify the transplant window correctly.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Female
  • Humans
  • Lung / diagnostic imaging
  • Lung / pathology
  • Lung Diseases, Obstructive / complications*
  • Lung Diseases, Obstructive / diagnosis
  • Lung Diseases, Obstructive / physiopathology
  • Male
  • Middle Aged
  • Neurofibromatosis 1 / complications*
  • Neurofibromatosis 1 / diagnosis
  • Neurofibromatosis 1 / physiopathology
  • Respiratory Function Tests
  • Tomography, X-Ray Computed