Tuberous sclerosis is caused by a genetic defect, which leads to the abnormal development of mesodermal tissues. It is characterized by the classical triad of epilepsy, mental retardation, and a specific skin lesion, adenoma sebaceum. Incomplete forms of the defect, with mild deviation from normal, are being increasingly recognized. Pulmonary involvement is rare, with 31 cases documented. Three additional patients, two males and one female, are reported and the literature reviewed. Pulmonary involvement is more common in females (84 per cent). The average age of onset of respiratory symptoms is 34 years, with an average duration of disease of five years and average age at death 43 years. Exertional dyspnoea is the major symptom. Chest X-ray appearances vary from a fine reticular infiltration to multi-cystic changes. Cor pulmonale and spontaneous pneumothorax are the most common cause of death. Fifty-four per cent of the cases reported have average or above average intelligence.Although rare, tuberous sclerosis should be kept in mind in the diagnosis of patients with progressive pulmonary infiltrations of uncertain etiology, cystic lung disease and spontaneous pneumothorax. Intelligence is often normal, so that the patient may present purely as a respiratory problem. The pulmonary lesion is frequently the cause of death.
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