Tehran University Medical Journal (Jan 2023)
Sporadic pulmonary lymphangioliomyomatosis (LAM) in a 24-year-old female: a case report
Abstract
Background: Sporadic lymphangioleiomyomatosis (S-LAM) is a rare disease that generally affects young women and involves the abnormal proliferation of smooth muscle cells (LAM cells) in the lungs (pulmonary LAM). There are two types of LAM, sporadic and LAM with tuberous sclerosis, which is an autosomal dominant genetic disease caused by mutations in the Tsc1 and Tsc2 genes. The most common manifestation of this disease is pneumothorax due to cyst rupture. Median transplant-free survival for pulmonary LAM is 23 years from diagnosis. Factors associated with a poor prognosis are often those associated with a more rapid decline in lung function. Case Presentation: The patient was a 24-year-old woman who presented with pneumothorax and multiple bullae in both lungs. The patient had no family history of respiratory disease, and the patient herself had no symptoms other than mild shortness of breath following activity from a year ago. A lung CT scan was performed for the patient and multiple bullae were evident in both lungs, which confirmed the diagnosis. There was no evidence of involvement of other organs but the lung. For the patient in the ICU with the diagnosis of left pneumothorax, a chest tube was inserted and she underwent mechanical ventilation. Finally, after 24 days of hospitalization, oxygen therapy of the patient was performed with a normal mask, and she underwent left lung pleurodesis with talcum powder, and a few days later, right lung pleurodesis was performed on the patient. On the 36th day of hospitalization, her general condition improved and she was discharged from the ICU. The patient was discharged in good general condition and had no problem on her four months follow-up. Conclusion: Fortunately, with the diagnosis of LAM for the patient according to the CT scan of the patient's lung, she was treated with insertion of a chest tube and by performing pleurodesis, the recurrence of pneumothorax was prevented. In a young woman with spontaneous pneumothorax, sporadic LAM is one of the differential diagnoses.
