PULMONARY-DISEASE OF TUBEROUS-SCLEROSIS O F BOURNEVILLE

Pulmonary disease is very rare during the course of tuberous sclerosis of Bourneville (STB). The authors report two cases of STB with pulmon ary involvement occurring in the same family, mother and daughter. Bot h presented with typical cutaneous manifestations of the disease and b ilateral renal angiomyolipomas. In the daughter, the early pulmonary d iagnosis was made by computed tomographic examination (TDM) which show ed the images of the cyst very sharply, although the pulmonary radiogr aph was normal. Prolonged follow up with pulmonary function tests is i mportant. Lung function tests were very abnormal in the mother with a frank diminution of the TLCO and hypoxia at rest. In the daughter, the y revealed the development of obstructive airways disease. Bronchoalve olar lavage was carried out in both the mother and daughter and showed intra-alveolar haemorrhage (with a ground glass appearance on compute d tomography in the mother). Pulmonary lymphangiomyomatosis (LPM) and STB with pulmonary involvement are clinical disorders which are anatom ically closely related. If the value of hormonal treatment has been sh own during the course of LMP, their efficacy in STB is variable.