ABSTRACT

Tuberous sclerosis, also known as Bourneville’s disease is an autosomal dominant disorder; mental retardation, seizures and facial angiofibromas represent the classic clinical triad; intelligence is sometimes preserved. Hamartomas can be found in the central nervous system, kidneys, retina and skin. Characteristically, there are hypopigmented spots on the trunk followed by wartlike lesions, known as adenoma sebaceum, distributed in a butterfly pattern over the face and cheeks. Histologically, pulmonary involvement demonstrated by lymphangioleiomyomatosis, with multiple parenchymal cysts whose walls contain proliferating smooth muscle fibers; this can lead to obstruction, air trapping, bullae formation, and pneumothorax; the presence of the latter is most uncommon. The therapeutic complexity, poor prognosis and the close follow-up required by these patients prompt our report.

KEYWORDS

Tuberous sclerosis, cystic lung disease, pneumothorax, Bourneville’s disease.

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