Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 22-year-old African American female patient presented with a sudden onset of difficulty in breathing for approximately 2 days accompanied by bilateral pleuritic chest pain. Her past medical history was significant for tuberous sclerosis and mental retardation. Preliminary radiographic imaging showed bilateral pneumothoraces for which bilateral chest tubes were subsequently inserted. A computed tomography scan of the chest showed cystic changes compatible with lymphangioleiomyomytosis (LAM). She underwent a video-assisted thoracoscopy with pleurodesis and an open lung biopsy for the confirmation of the diagnosis. Cystic changes involving the visceral pleura were noticed during the procedure. Understanding that "tuberous sclerosis complex" is an illness that could be associated with LAM should prompt clinicians to consider the diagnosis if the patients present with shortness of breath, pneumothorax, diffuse cystic lung changes, or hemoptysis. Hemoptysis results from pulmonary venous hypertension, which is a consequence of LAM. Pleuroscopy or video-assisted thoracoscopy may show unusual findings, as described in this case, which could be pathognomonic for the diagnosis.
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PMID:Lymphangioleiomyomytosis: Are the Findings of Video-assisted Thoracoscopy Pathognomonic? 2316 18