Hyponatremia: A Tip of the Iceberg in the Late Diagnosis of Tuberous Sclerosis Associated With Lymphangioleiomyomatosis.

Tuberous sclerosis (TS) is a rare, autosomal dominant, multisystem genetic disease that causes multiple benign tumors in the brain and other vital organs. Rarely, it can be associated with lymphangioleiomyomatosis (LMA) that is characterized by the proliferation of immature smooth muscle cells in the walls of the airways, venules, and lymphatic vessels in the lung. Here, we present the case of a 44-year-old intellectually disabled woman with a history of marked polydipsia who presented to the emergency department with persistent vomiting.

Pathologically confirmed diffuse alveolar haemorrhage in lymphangioleiomyomatosis.

A 40-year-old woman was referred to pulmonology after presenting with dyspnoea and self-limiting haemoptysis. Chest CT revealed diffuse ground glass opacities and small thin-walled cysts. Bronchoalveolar lavage cultures were negative and cytology revealed haemosiderin-laden macrophages.

Acute and repeated haemoperitoneum: a challenging case of lymphangioleiomyomatosis with uterine PEComa.

A 39-year-old woman presented in the emergency ward for abdominal pain and acute anemiation. Abdominal-thoracic CT scan showed haemoperitoneum, with a parauterine mass and a pathological pulmonary pattern suspicious for lymphangioleiomyomatosis (LAM), a systemic disease belonging to perivascular epithelioid cell tumours (PEComas). Gynaecological ultrasound showed a hypoechoic irregular solid mass of the uterine right wall.

The utility of gallium-68 DOTATOC PET/CT in lymphangioleiomyomatosis.

https://bit.ly/3l6BVZp.

Assessment of Lung Structure and Regional Function Using 0.55 T MRI in Patients With Lymphangioleiomyomatosis.

Objectives: Contemporary lower-field magnetic resonance imaging (MRI) may offer advantages for lung imaging by virtue of the improved field homogeneity. The aim of this study was to evaluate the utility of lower-field MRI for combined morphologic imaging and regional lung function assessment. We evaluate low-field MRI in patients with lymphangioleiomyomatosis (LAM), a rare lung disease associated with parenchymal cysts and respiratory failure.

Tuberous Sclerosis: Current Update.

Tuberous sclerosis complex (TSC) is a relatively rare autosomal dominant neurocutaneous disorder secondary to mutations in the or tumor suppressor genes. Although manifestation of the classic triad of seizures, intellectual disability, and facial angiofibromas may facilitate timely diagnosis of TSC, the multisystem features that may indicate TSC in the absence of these manifestations remain highly variable. In addition, patients with TSC are at risk of developing multiple benign and malignant tumors in various organ systems, resulting in increased morbidity and mortality.

A second hit somatic (p.R905W) and a novel germline intron-mutation of TSC2 gene is found in intestinal lymphangioleiomyomatosis: a case report with literature review.

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in multiple organs associated with germline mutations in TSC1 and TSC2, including exonic, intronic, or mosaic mutations. Gastrointestinal (GI) tract Lymphangioleiomyomatosis (LAM) is an extremely rare manifestation of TSC, with few reported cases. Herein, we aimed to determine the driver mutation, pathogenesis, and relationship of germline and somatic mutations of LAM through whole-genome sequencing (WGS) of the tumor and blood samples and whole transcriptome sequencing (WTS) analysis.

Cathepsin K is Superior to HMB45 for the Diagnosis of Pulmonary Lymphangioleiomyomatosis.

Pulmonary lymphangioleiomyomatosis (LAM) is a rare cystic lung disease affecting predominantly young women. Classified as a low-grade malignant soft tissue neoplasm from the family of perivascular epithelioid cell (PEC) tumors or PEComas, it is characterized by a proliferation of abnormal smooth muscle-like cells (LAM cells), coexpressing myogenic and melanocytic markers, with HMB45 as the gold-standard immunohistochemical diagnostic marker. Cathepsin K, a papain-like cysteine protease with high matrix degrading activity, is commonly used in the pathologic diagnosis of other PEComa tumors, but there are few data regarding its expression in pulmonary LAM.

Quantitative Assessment of Macropinocytosis in mTORC1-Hyperactive Cells using Flow Cytometry.

Macropinocytosis is a highly conserved, actin-dependent endocytic process that allows the uptake of extracellular material, including proteins and lipids. In proliferating cells, macropinocytosis can deliver extracellular nutrients to the lysosome, processed into critical macromolecule building blocks. Recent studies have highlighted the dependence of multiple cancers on macropinocytosis, including breast, colorectal and pancreatic cancer.

Hyperpolarized Xenon MRI Ventilation Defect Quantification via Thresholding and Linear Binning in Multiple Pulmonary Diseases.

Rationale: There is no agreed upon method for quantifying ventilation defect percentage (VDP) with high sensitivity and specificity from hyperpolarized (HP) gas ventilation MR images in multiple pulmonary diseases for both pediatrics and adults, yet identifying such methods will be necessary for future multi-site trials. Most HP gas MRI ventilation research focuses on a specific pulmonary disease and utilizes one quantification scheme for determining VDP. Here we sought to determine the potential of different methods for quantifying VDP from HP Xe images in multiple pulmonary diseases through comparison of the most utilized quantification schemes: linear binning and thresholding.

Multidisciplinary team approach to diagnosing lymphangioleiomyomatosis.

A 42-year-old woman with chronic obstructive pulmonary disease was referred to the respiratory team due to shortness of breath on exertion and significant deterioration in pulmonary function tests. Her symptoms were progressively getting worse. This prompted a referral to the specialist team where further investigations were undertaken including a high-resolution CT scan followed by lung biopsy, which eventually revealed a diagnosis of lymphangioleiomyomatosis (LAM).

Tuberous sclerosis complex for the pulmonologist.

Tuberous sclerosis complex (TSC) is a rare multisystem genetic disorder affecting almost all organs with no sex predominance. TSC has an autosomal-dominant inheritance and is caused by a heterozygous mutation in either the or gene leading to hyperactivation of the mammalian target of rapamycin (mTOR). TSC is associated with several pulmonary manifestations including lymphangioleiomyomatosis (LAM), multifocal micronodular pneumocyte hyperplasia (MMPH) and chylous effusions.

A 34-Year-Old Woman from Brazil with Pulmonary Lymphangioleiomyomatosis Diagnosed by Raised Serum Vascular Endothelial Growth Factor-D (VEGF-D) Levels and Lung Cysts on Computed Tomography Imaging Presenting with COVID-19 Pneumonia.

BACKGROUND There is growing concern about the clinical course of certain diseases in patients who are simultaneously infected by SARS-CoV-2. This report is of a 34-year-old woman from Brazil with a recent diagnosis of pulmonary lymphangioleiomyomatosis (LAM) diagnosed by raised serum VEGF-D levels and the finding of lung cysts on computed tomography (CT) imaging, who presented with COVID-19 pneumonia. CASE REPORT Five months after the diagnosis of pulmonary LAM, which was based on the presence of diffuse and bilateral cystic lesions on CT scan associated with high serum VEGF-D levels, the patient presented with worsening dyspnea, drop in peripheral oxygen oxygenation, fever, and diffuse myalgia.

A Case of Pulmonary Adenocarcinoma Presenting with Diffuse Cystic Lesions.

The main causes of diffuse cystic lung diseases include lymphangioleiomyomatosis, pulmonary Langerhans cell histiocytosis, Birt-Hogg-Dubé syndrome, lymphoid interstitial pneumonia, light chain deposition disease, pneumonia, hypersensitivity pneumonitis, and desquamative interstitial pneumonia. Diffuse cystic lung diseases are rarely caused by a malignant process, which are secondary to metastases from sarcomas and gastrointestinal and gynecologic adenocarcinomas. Here, we present a rare case of invasive pulmonary adenocarcinoma associated with progressive diffusion of cystic lesions, revealed by chronic cough and progressive shortness of breath.

Association between pulmonary artery to aorta diameter ratio with pulmonary hypertension and outcomes in diffuse cystic lung diseases.

To investigate the importance of pulmonary vascular measurements on computed tomography (CT) in predicting pulmonary hypertension (PH) and worse outcomes in diffuse cystic lung diseases (DCLDs).We conducted a cross-sectional study of patients with DCLDs. Patients underwent pulmonary function tests, a six-minute walk test (6MWT), chest CT, transthoracic echocardiography, and right heart catheterization.

Oxygen-enhanced functional lung imaging using a contemporary 0.55 T MRI system.

The purpose of this study was to evaluate oxygen-enhanced pulmonary imaging at 0.55 T with 3D stack-of-spirals ultrashort-T (UTE) acquisition. Oxygen-enhanced pulmonary MRI offers the measurement of regional lung ventilation and perfusion using inhaled oxygen as a contrast agent.

Lymphangioleiomyomatosis associated with prolactinoma: A case report and literature review.

The thirty-five-year-old woman had been experiencing dyspnea on exertion since her second child's birth five years before presenting to hospital A, where she was diagnosed with lymphangioleiomyomatosis (LAM) based on video-assisted thoracoscopic surgery lung biopsy and referred to our hospital. She was treated with sirolimus for one year. Although her subjective symptom of dyspnea improved, she found that her amenorrhea had persisted for six years.

A Case of Burnt-Out Langerhans Cell Histiocytosis Presenting as Postpartum Hypopituitarism.

Objective: To evaluate the case of a woman who presented with central hypogonadism and diabetes insipidus and further developed a persistent cough leading to an unexpected diagnosis of burnt-out Langerhans cell histiocytosis (LCH).

Methods: Clinical and laboratory endocrine evaluation, magnetic resonance imaging, high-resolution computed tomography, and open-lung biopsy results are discussed.

Results: A 28-year-old woman presented at 10 months postpartum with polydipsia, polyuria, and amenorrhea for 3 months.

Uncommon radiologic computed tomography appearances of the chest in patients with lymphangioleiomyomatosis.

Lymphangioleiomyomatosis (LAM) is a rare destructive lung disease characterized by multiple thin-walled pulmonary cysts. The currently proposed diagnostic algorithm emphasizes the characteristic cystic appearance on high-resolution computed tomography (HRCT) so uncommon HRCT appearances present challenges to establishing the proper LAM diagnosis. The objective of this study is to accrue uncommon chest HRCT appearances, determine frequencies in both tuberous sclerosis complex (TSC)-associated LAM (TSC-LAM) and sporadic LAM (S-LAM) patients.

Quantitative Analysis of Cystic Lung Diseases by Use of Paired Inspiratory and Expiratory CT: Estimation of the Extent of Cyst-Airway Communication and Evaluation of Diagnostic Utility.

Purpose: To establish a method for quantitatively estimating the extent of the communication between the cyst and the airway in cystic lung diseases (CLDs) and evaluate its diagnostic utility in differentiating among CLDs.

Materials And Methods: Seventy-one patients (mean age, 49.9 years; age range, 25-79 years) with CLDs who underwent paired inspiratory and expiratory CT between July 2015 and July 2018 were enrolled in this prospective study.

CT findings of pulmonary cysts.

Pulmonary cysts are thin-walled radiolucent lesions that may appear in a variety of uncommon disorders known as diffuse cystic lung diseases (DCLD) that essentially includes lymphangioleiomyomatosis (LAM), Langerhans cell histiocytosis (LCH), lymphocytic interstitial pneumonia (LIP), Pneumocystis jiroveci pneumonia (PJP), and Birt-Hogg-Dubé syndrome (BHDS). Moreover, they have been reported in several cases of coronavirus disease 2019 (COVID-19). The purpose of this review is to provide a practical approach for evaluating lung cysts when encountered on CT.

A Systematic Review of Lymphangioleiomyomatosis on Diagnosis and Molecular Mechanism.

Objective: Lymphangioleiomyomatosis (LAM) is a rare low-grade metastatic tumor; however, LAM patients were always found in young age with difficulty for diagnosis. Our study is aimed at observing the clinical characteristics of patients with lymphangiomatosis, including the clinical manifestations, imaging findings, histopathological features, and immunophenotype.

Methods: We did a systematic review on LAM/PLAM cases, especially on male cases, and collected the clinical features and molecular mechanisms of PLAM based on previous findings.