[Respiratory manifestations in von Recklinghausen's disease]

The neurofibromatosis type I (NF I, von Recklinghausen's disease) is an autosomal dominant neurocutaneous disorder with systemic involvement. The respiratory manifestations include: chest wall deformities, upper airway obstruction by neurofibromas, parenchymal neurogenic tumours, pulmonary fibrosis, cystic lung disease, primary pulmonary hypertension, central hypoventilation, diaphragm paralysis. We present 4 cases of NF I associated with chronic respiratory diseases. The common feature is the presence of severe chest deformities. The bullous emphysema was present in 2 of them. All 4 patients suffered from depressive syndrome with neuroleptic use.