[Pulmonary involvement of Bourneville's tuberous sclerosis. The value of early detection. A familial form]

Abstract

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.