ABSTRACT
Lymphangioleiomyomatosis (LAM) is a rare progressive lung disease, occurring in women of childbearing age, that can occur sporadically (S-LAM) or can be associated with tuberous sclerosis complex (TSC-LAM), an inherited neurocutaneous disorder. This article is illustrated by a case report. We then review clinical manifestations, diagnostic tools, and treatment of this disease. LAM should be considered in young women who present with dyspnea on exertion and/or spontaneous pneumothorax, with typical cystic lesions on high-resolution chest CT.
La lymphangioléiomyomatose (LAM) est une pathologie pulmonaire rare, touchant les femmes en âge de procréer, et pouvant se présenter sous forme sporadique (S-LAM) ou associée à la sclérose tubéreuse de Bourneville (TSC-LAM), une maladie génétique avec atteinte neurocutanée. Cet article, illustré par l'histoire d'une patiente, reprend la clinique, les outils diagnostiques et le traitement de cette maladie. Le diagnostic devrait être évoqué chez les femmes jeunes qui présentent une dyspnée d'effort et/ou un pneumothorax spontané, avec des lésions kystiques caractéristiques sur le CT thoracique à haute résolution.
Subject(s)
Dyspnea/etiology , Lung Diseases/diagnosis , Lymphangioleiomyomatosis/diagnosis , Adult , Female , Humans , Lung Diseases/physiopathology , Lung Diseases/therapy , Lymphangioleiomyomatosis/physiopathology , Lymphangioleiomyomatosis/therapy , Pneumothorax/etiology , Tomography, X-Ray Computed/methods , Tuberous Sclerosis/complicationsABSTRACT
A 38 year old woman with a medical history of left pleurectomy and thoracic duct ligation for a recurrent chylothorax at age 21 was hospitalized for evaluation and treatment of a right sided pleural effusion and a pericardial effusion. A diffuse pulmonary lymphangiomatosis was diagnosed based on evidence obtained from a thoracic CT scan and from pleural and pericardial biopsies. The patient underwent drainage of these effusions and received systemic corticosteroids. Although both effusions initially recurred and required subsequent drainage and treatment by colchicine, evolution at 19 months of diagnosis is favorable. This case illustrates the fact that the prognosis of diffuse pulmonary lymphangiomatosis in adults may be characterized by a less aggressive evolution and by a more favorable prognosis than that observed in children.
