Medical Imaging Quiz − Case 42 (original) (raw)
Related papers
Lymphangioleiomyomatosis Unusual Cause of Spontaneous Pneumothorax
https://www.ijhsr.org/IJHSR\_Vol.11\_Issue.6\_June2021/IJHSR-Abstract.035.html, 2021
Lymphangioleiomyomatosis (LAM) is a rare multisystem disease, predominately affect premenopausal female. LAM could be an inherited disease associated with Tuberous Sclerosis Complex syndrome or sporadic. Most common pulmonary symptoms are dyspnea and pneumothorax. We report 31-year female, presented with right-side pneumothorax chest drainage was inserted. Further investigation revealed multiple cystic lesions in chest computed tomography images suggestive of LAM disease. She underwent video-assisted thoracoscopic surgery (VATs) to obtain a lung biopsy. Histopathology lung tissue confirms pulmonary Lymphangioleiomyomatosis.
Extrapulmonary presentation of asymptomatic pulmonary lymphangioleiomyomatosis
Respirology, 2003
is a rare multisystem disease that affects almost exclusively women in the reproductive age that can occur sporadically or in association with tuberous sclerosis (TB). LAM is characterized by invasion of the lungs and axial lymphatics by smooth muscle like cells termed LAM cells which have mutations in TSC1 or more commonly TSC2 resulting in activation of mTOR, abnormal cellular growth and migration. LAM commonly presents with dyspnea, recurrent pneumothorax and in some cases respiratory failure. Diagnosis is made by a combination of clinical features and the finding of thin walled cysts on CT scanning. In case of doubt, lung biopsy can be made for diagnosis with smooth muscle actin and HMB45 positive cells. Forty percent of patients have renal angiomyolipoma. Treatment is predominantly supportive with oxygen, bronchodilators and sometimes lung transplantation.
Lymphangioleiomyomatosis: A Case Report and Review of Literature
Cureus, 2019
Pulmonary lymphangioleiomyomatosis (LAM) is a disease, which is most commonly seen in women of childbearing age. The objective of this article was to provide education about the typical clinical presentation, radiologic findings, histology, treatment approaches, and differential diagnosis. Pulmonary LAM is a cystic lung disease, usually generalized and progressive and extremely difficult to treat and is considered to have a poor prognosis. Patients with LAM often present with an insidious onset of dyspnea; this could be secondary to pneumothorax. However, it could also be present as chylothorax and hemoptysis. We discussed a case who presented with chest pain and shortness of breath due to pneumothorax and retrospectively diagnosed with LAM.
Acta medica Croatica: c̆asopis Hravatske akademije medicinskih znanosti
Lymphangioleiomyomatosis (LAM) is a progressive and usually fatal interstitial lung disease characterized by an abnormal smooth-muscle proliferation in the lung and axial lymphatics. It affects almost exclusively young women of childbearing age. The presenting features most commonly include dyspnea, symptoms of pneumothorax and cough. Less commonly patients can present with chest pain, pleural or pericardial effusion and lymphedema. Our patient, a 41-year-old woman, complained mainly of fatigue that had lasted for 2 months and finally became febrile and dispneic, especially when lying down. Pulmonary diagnostic procedures revealed several multicystic destruction of lung parenchyma. There was also respiratory insufficiency with O2 saturation of 87% and lung diffusion capacity reduced to 48%. The retroperitoneum was filled with neoplastic mass as shown on an abdominal CT scan. Pathohistologic analysis of retroperitoneal mass together with the radiologic finding of the lungs correlated...
Molecular Pathogenesis of Lymphangioleiomyomatosis
American Journal of Respiratory Cell and Molecular Biology, 2007
Lymphangioleiomyomatosis (LAM) is a rare progressive cystic lung disease affecting young women. The pivotal observation that LAM occurs both spontaneously and as part of the tuberous sclerosis complex (TSC) led to the hypothesis that these disorders share common genetic and pathogenetic mechanisms. In this review we describe the evolution of our understanding of the molecular and cellular basis of LAM and TSC, beginning with the discovery of the TSC1 and TSC2 genes and the demonstration of their involvement in sporadic (non-TSC) LAM. This was followed by rapid delineation of the signaling pathways in Drosophila melanogaster with confirmation in mice and humans. This knowledge served as the foundation for novel therapeutic approaches that are currently being used in human clinical trials.
Lymphangioleiomyomatosis: New Concepts in Pathogenesis, Diagnosis, and Treatment
Seminars in Respiratory and Critical Care Medicine, 2012
Lymphangioleiomyomatosis (LAM) is a slowly progressive systemic disease characterized by smooth muscle cell infiltration of the lung and lymphatics, and diffuse, cystic remodeling of the pulmonary parenchyma. 1,2 Lymphatic obstruction and infiltration can result in chylous fluid collections and fluidfilled lymphangiomyomas in the chest and abdomen. 3 Angiomyolipomas (AMLs), benign tumors composed of fat and smooth muscle, can occur in the kidney but are also found in liver or spleen. LAM occurs in up to 40% of women with tuberous sclerosis complex (TSC-LAM) and in a nontransmissable sporadic form (S-LAM) that affects 3to5womenpermillioninthegeneralpopulation.4,5CysticchangesconsistentwithLAMalsooccurinupto10to153 to 5 women per million in the general population. 4,5 Cystic changes consistent with LAM also occur in up to 10 to 15% of men with TSC, 6,7 although there are few biopsy-documented cases, and symptomatic disease in males is rare. Only a single case of sporadic LAM in a male has been reported. 8 The average age at the time of diagnosis of LAM is 3to5womenpermillioninthegeneralpopulation.4,5CysticchangesconsistentwithLAMalsooccurinupto10to1535 years, although the disease has been described in children 9 and in the elderly. 10 LAM typically presents with progressive dyspnea on exertion, pneumothorax, and chylo-thorax, or as an incidental finding on computed tomographic (CT) scan of the chest or abdomen obtained for another purpose. Less common presentations include hemoptysis, chyloptysis, chylous ascites, or chyluria. Recurrences of pneumothorax are common. 11,12 Chest high-resolution CT (HRCT) scans reveal round, thin walled cysts of diameters varying from 0.2 to 2 cm diffusely distributed throughout both lungs. The diagnosis can be made clinically based on typical HRCT findings and at least one compelling corroborative feature, such as a history of tuberous sclerosis, an AML, a lymphangiomyoma or a chylothorax. 13 In the absence of these findings, a biopsy may be necessary, and video-assisted thoracoscopic surgery is the most common approach. At a microscopic level, nodular foci of smooth muscle cell infiltration are found adjacent to areas of cystic change. 14,15 Smooth muscle cells of two morphologies populate the LAM foci; epithelioid cells and spindled cells. Both cell types have immunohistochemical staining patterns of normal smooth muscle cells including positive staining for alpha smooth muscle actin, desmin, and vimentin. Subpopulations of