Lymphangioleiomyomatosis (LAM) is a disorder that causes cystic disease in the lungs. This condition is associated with renal angiomyolipomas and commonly occurs in individuals with tuberous sclerosis. Despite its frequent association with tuberous sclerosis, LAM is a rare condition and is often underdiagnosed. An identification of the array of signs for LAM is necessary to start the patient on appropriate long-term guideline-directed medical therapy. A 24-year-old female patient with a past medical history of tuberous sclerosis, gestational hypertension, stable renal angiomyolipoma, and recent pneumothorax presented to our emergency department complaining of four weeks of productive cough. On presentation, she was found to have stable vital signs, and on examination, she had absent breath sounds in the right basilar and anterior mid-lung field compared to the left. Subsequent imaging confirmed a recurrence of pneumothorax from her visit three months prior to her current presentation as well as progressive cystic lung disease and an unchanged angiomyolipoma, suggestive of LAM. We present this article with the hope of raising the index of suspicion for LAM in the setting of the particular signs and symptoms and to encourage prompt stabilization of the patient and initiation of guideline-directed medical therapy and strict follow-up to provide the greatest possible improvement in the patient's quality of life.
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http://dx.doi.org/10.7759/cureus.11102 | DOI Listing |
Radiol Bras
January 2025
Universidade Federal de Juiz de Fora (UFJF), Juiz de Fora, MG, Brazil.
Sclerosing bone dysplasias encompass abnormalities in bone density, divided into hereditary and nonhereditary forms. Primarily diagnosed through radiography, they are often incidental findings. Among the hereditary forms, the following stand out: osteopetrosis, osteopoikilosis, multiple diaphyseal sclerosis (ribbing disease), osteopathia striata, and Camurati-Engelmann disease.
View Article and Find Full Text PDFS D Med
November 2024
Sanford USD Medical Center, Sioux Falls, South Dakota.
Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease that causes progressive pulmonary damage. It typically affects young reproductive-age females with tuberous sclerosis complex (TSC). The clinical manifestations of LAM result from the progressive invasion of abnormal smooth muscle cells into lung parenchyma, lymphatics, or pulmonary vasculature.
View Article and Find Full Text PDFEpilepsia
January 2025
Department of Neurosciences, Faculty of Medicine, Université de Montréal, Montreal, Quebec, Canada.
Objective: Tuberous sclerosis complex (TSC) is a monogenetic disorder associated with sustained mechanistic target of rapamycin (mTOR) activation, leading to heterogeneous clinical manifestations. Epilepsy and renal angiomyolipoma are the most important causes of morbidity in adult people with TSC (pwTSC). mTOR is a key player in inflammation, which in turn could influence TSC-related clinical manifestations.
View Article and Find Full Text PDFAm J Surg Pathol
January 2025
Departments of Pathology.
Proliferations of neoplastic perivascular epithelioid cells (PECs) may occur within the lung and extrathoracic sites. The term "PEComatosis" is applied to multiple or diffuse microscopic proliferations of neoplastic PECs. Pulmonary diffuse PEComatosis is extremely rare, with only one case documented in the literature to date.
View Article and Find Full Text PDFPediatr Nephrol
January 2025
PKD Research Group, Laboratory of Ion Channel Research, Department of Cellular and Molecular Medicine, KU Leuven, Louvain, Belgium.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder which can have manifestations in the kidneys, along with other organ systems. Children with TSC may develop kidney lesions at any point during childhood, and typically these are angiomyolipomata (AML) and/or kidney cysts. Children may also have hypertension associated with TSC-associated kidney disease, and rarely reduced kidney function.
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