[Pulmonary involvement of Bourneville's tuberous sclerosis. The value of early detection. A familial form]. / Les atteintes pulmonaires de la sclérose tubéreuse de Bourneville. Intérêts du dépistage précoce. A propos d'une forme familiale.

Pulmonary disease is very rare during the course of tuberous sclerosis of Bourneville (STB). The authors report two cases of STB with pulmonary involvement occurring in the same family, mother and daughter. Both presented with typical cutaneous manifestations of the disease and bilateral renal angiomyolipomas. In the daughter, the early pulmonary diagnosis was made by computed tomographic examination (TDM) which showed the images of the cyst very sharply, although the pulmonary radiograph was normal. Prolonged follow up with pulmonary function tests is important. Lung function tests were very abnormal in the mother with a frank diminution of the TLCO and hypoxia at rest. In the daughter, they revealed the development of obstructive airways disease. Bronchoalveolar lavage was carried out in both the mother and daughter and showed intra-alveolar haemorrhage (with a ground glass appearance on computed tomography in the mother). Pulmonary lymphangiomyomatosis (LPM) and STB with pulmonary involvement are clinical disorders which are anatomically closely related. If the value of hormonal treatment has been shown during the course of LMP, their efficacy in STB is variable.

[Hemoptysis disclosing a plasma cell granuloma with intra-bronchial involvement]. / Hémoptysies révélant un granulome plasmocytaire avec bourgeon endo-bronchique.

The authors report a case of a plasma cell granuloma in a young woman of 19 with a past history of congenital rubella, presenting with repeated small haemoptyses related to a pedunculated endo-bronchial tumour. The diagnosis was only made per-operatively, permitting an effective excision.

[Prolonged mechanical nasal ventilation. Apropos of 27 case of myopathy]. / Ventilation mécanique prolongée par voie nasale. A propos de 27 cas de myopathie.

We report the results of a retrospective study of a group of 27 patients with a myopathy who were ventilated at home using a nasal mask over a period of 5 years. Twelve patients were ventilated in a preventive fashion before any orthopaedic surgical intervention and 15 out of necessity because of respiratory failure and/or hypercapnia. There was a statistically significant improvement in the PaO2 while the PaCO2 remained stable. The vital capacity (CV) was unaltered. Side effects were relatively frequent but did not lead to this method of ventilation being stopped. One patient died from a very advanced cardio-myopathy after having stopped his own assisted ventilation. Another patient died at home of bronchial congestion. One patient had a tracheotomy after 3 years of ventilation. The treatment was judged overall as positive amongst the 19 patients who responded to a questionnaire anonymously. We are able to confirm the efficacy of this mode of ventilation by the nasal route as much therapeutically as prophylactically, which is against the recently reported results in a multi-centre study.