Miliary Pulmonary Lymphangioleiomyomatosis - ATS Journals

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Apr 15, 2013 - There was no family history of tuberous sclerosis complex (TSC), epilepsy, or skin and finger abnormalities. Multisystem investigations revealed ...
Images in Pulmonary, Critical Care, Sleep Medicine and the Sciences Miliary Pulmonary Lymphangioleiomyomatosis Kai-Feng Xu1, Weihong Zhang2, and Hongrui Liu3 Department of Respiratory Medicine, 2Department of Radiology, and 3Department of Pathology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China

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Figure 1. (A) Evenly distributed micronodules and scattered cysts on computed tomography scan. (B) Disseminated lymphangioleiomyomatosis cell foci consisting of proliferated atypical smooth muscle cells and cysts on hematoxylin and eosin stain of lung tissue.

A 31-year-old female was found to have miliary nodules in the lungs on chest X-ray during a routine health check. Upon inquiry, the only symptom she had then was mild dyspnea (New York Heart Association Functional Classification II). High-resolution computed tomography (CT) of her chest showed diffuse miliary micronodules evenly distributed in the lungs as well as the presence of cystic lesions scattering throughout the lungs (Figure 1A and Figure E1 in the online supplement). A diagnosis of lymphangioleiomyomatosis (LAM) was made from transbronchial lung biopsy. Lung biopsy was again obtained through video-assisted thoracoscopy when she presented with pneumothorax 2 years later. Repeat CT of the lungs showed no significant changes of the micronodules despite progressive dyspnea and development of pneumothorax. There was no family history of tuberous sclerosis complex (TSC), epilepsy, or skin and finger abnormalities. Multisystem investigations revealed no abnormality outside lung, namely no evidence of TSC, angiomyolipoma, lymphangioleiomyoma, or chylous effusions. TSC was excluded by genetic testing for TSC1 or TSC2 mutations. Hematoxylin and eosin stain of the lung tissue showed disseminated foci consisting of dense proliferative atypical spindle smooth muscle cells and cysts (Figure 1B and Figure E2).The nodules were positive on staining for HMB45, smooth muscle actin, estrogen receptor, and progesterone receptor. The serum level of vascular endothelial growth factor D was 3,749 pg/ml. A past study suggested that this level is diagnostic of LAM. LAM is characterized by diffuse thin-walled cystic lung disease in women. Radiologically, scattered nodules had been described in sporadic occurrence of LAM, and were more prevalent in TSC-associated LAM. Multifocal micronodular pneumocyte hyperplasia had been described, but was not present in this case. Our case suggests that miliary nodules on high-resolution CT scan could be a feature of LAM and that they may coexist with the presence of cysts in the lungs. Author disclosures are available with the text of this article at www.atsjournals.org. Acknowledgment: The authors thank Jing Duan and Rongrong Chen (Department of Physiology, Peking Union Medical College, Beijing, China) for their assistance in TSC1 and TSC2 gene test and Dr. Bee Hong Lo (Children’s Hospital Westmead, Sydney, Australia) for her assistance in editing.

Author Contributions: K.-F.X., W.Z., and H.L. collected clinical materials; K.-F.X. wrote the manuscript. This article has an online supplement, which is accessible from this issue’s table of contents at www.atsjournals.org Am J Respir Crit Care Med Vol 187, Iss. 8, p e15, Apr 15, 2013 Copyright ª 2013 by the American Thoracic Society DOI: 10.1164/rccm.201203-0427IM Internet address: www.atsjournals.org

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