Eur Resplr J 1988, 1, 464- 465 CASE REPORT Endotracheal neurofibroma in a patient with von Recklinghausen's disease I.S. Lassos, R. Breuer, J.S. Lafair* Endotracheal neurofibroma in a patient with von Recklinghauen's disease. I.S. Lossos. R. Breuer. J.S. Lafair •Pulmonary Unit, Hadassah University Hospi- tal, Jerusalem, Israel. ABSTRACT: Benign neurogenous tumours arising in the trachea are rare. We report on a patient with von Recklinghausen's disease who presented with shortness of breath caused by endotracheal neurofibroma. Correspondence: Dr. R. Breuer, Pulmonary Unit, Hadassah University Hospital, POB 12000, IL-91120 Jerusalem, Israel. Eur Respir J. 1988, 1, 464-465. Von Recklinghausen's disease (neurofibromatosis) is a syndrome transmitted by an autosomal dominant gene. It is characterized by the presence of palpable neurofibromas of peripheral nerves, multiple soft cutaneous tumours and cafe au lait s pots. Various manifestations of the disease are summarized else- where [1 ). Respiratory complaints, such as dyspnoea and cough, are usually attributed to neurofibroma- taus tumours within the lung parenchyma or fibrosing alveolitis that accompanies this disease [2]. This case report describes a patient with a neurofibromatous tumour occurring endotracheally and reviews the ot her published case reports in the English literature. Case report A 45-old man with von Recklinghausen's disease presented to the Hadassah University Hospital in Jerusalem with an eighteen month history of short- ness of breath on exertion, without chest pain or cough. The patient had a smoking history of twenty packs a year. Family history was positive for neurofibromatosis. Physical examination revealed multiple cutaneous neurofibromas, cutaneous tumours and cafe au Jait spots, mainly on the face and the upper trun k. The remainder of the physical examination, including the chest, was unremarkabl e. Posteroanterior and lateral chest roentgenograms were normal. Spirometry showed vital capacity (VC) 3.49 I (112% predicted), forced expiratory volume in one second (FEV 1 ) 3.37 I (96% predicted) and FEVtfVC 73%. His flow-volume l oop was normal. Chest CT scan showed a small tumour protruding from the anterior wall of the trachea into the lumen and multiple extra thoracic cutaneous lesions. Indirect laryngoscopy was normal. Fibreoptic bronchoscopy revealed a small polypoid greyish tumour with a wide base located on the anterior wall of the trachea at a Keywords: Endotracheal neurofibroma; neurofibroma; neurofibromatosis; von Reckling- hausen's disease. Received: 17th November, I987; accepted after revision 18th December, 1987. distance of 22 cm from the teeth. Jt occupied approximately one third of the cross-sectional area of the trachea. No other endobronchial lesions were seen up to the subsegmental level in either right or left bronchial trees. Rigid bronchoscopy under general anaesthesia was performed and the tumour was completely removed. Pathologic examination of the tumour identified it as a neurofibroma. Following this bronchoscopic removal the patient has been well for 34 months without any respiratory complaints. Discussion Intratracheal tumours are relatively rare, and benign neurogenous tumours arising in the trachea are among the rarest [3, 4] . To our knowledge, only three other cases of endotracheal neurofibromas have been published in the English literatur e. The relevant clinical information from the three previously re- ported cases of endotracheal neurofibromas and our present case are summarized in table I. Three of the four endotracheal neurofibromas occurred in males. In two cases, the classic cutaneous von Recklinghausen 's disease was present. The clini- cal presentation of these patients is similar to that caused by other tracheal tumours [3, 5- 7]. In only two cases were endotracheal neurofib romas identified on chest roentgenograms. The other two cases had normal chest X-rays. This is understandable since on posteroanterior fi lms overlying soft tissues obscure the trachea. Pulmonary function tests did not show atl abnormal flow-volume loop in any of the four patients. Simple spirometry was completely normal in two cases and mildly abnormal in the other two. Pulmonary nodules, interstitial or parenchyma! in- volvement were not noted in any of the cases with endotracheal neurofibromas. It therefore seems likely that the occurrence of endotracheal neurofibromas is