[Lymphangioleiomyomatosis and tuberous sclerosis association]

ABSTRACT

The Lymphangioleiomyomatosis is a rare lung disease encountered almost exclusively in women of childbearing age. The combination with tuberous sclerosis is even more rare. Lung affection is characterized by thin walled multiple pulmonary cysts, recurrent pneumothorax, an obstructive ventilatory trouble, and an evolation to chronic respiratory failure within an average of 10 years. A patient aged 51 years old with a history of generalized seizures, hospitalized in the department for exertional dyspnea of NYHA stage III of gradual onset since 5 years, combined with a dry cough and some episodes of minimal hemoptysis leading to weakness of the general condition. Clinical examination found diffuse bilateral crepitational rale. The chest radiograph showed diffuse bilateral interstitial syndrome. The cardiovascular examination with ECG and echocardiography showed a mild PAH of 42 mmHg. The chest CT revealed multiple diffuse thin-walled cystic formations highly suggestive of lymphangioléimyomatose. Abdominal and kidney ultrasound showed no appearance of renal angiomyolipoma or uterine fibroids. Furthermore, cerebral CT showed encephalic calcifications objectified for a Tuberous sclerosis of Bourneville. Plethysmography showed a mixed ventilatory disorder predominantly obstructive. The diagnosis of pulmonary Lymphangioleiomyomatosis associated with Tuberous sclerosis of Bourneville has been retained. The patient was put on a long term oxygen therapy with good evolution. The combination Lymphangioleiomyomatosis and tuberous sclerosis of Bourneville is rare, interesting almost exclusively young women. International diagnostic criteria have been proposed for the diagnosis of these disorders. The prognosis remains reserved