Medical student Jun Liu and Associate Professor Zhichao Wang published a case report in BMJ about a patient with neurofibromatosis type 1 who presented with progressive breathlessness. The patient’s symptoms worsened despite treatment with bronchodilators and steroids. Further investigations revealed a large mediastinal mass compressing the thoracic airway, which was surgically excised. The case highlights the importance of considering differential diagnoses in patients with neurofibromatosis type 1 presenting with respiratory symptoms. It also demonstrates the multidisciplinary approach required for the management of such cases.
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Progressive breathlessness in a patient with neurofibromatosis type 1
