This study describe the optical coherence tomography angiography (OCTA) features of a young patient with Tuberous sclerosis complicated with CNV unilateral macular choroidal neovascularization during the ranibizumab therapy. OCTA scans of macular region of right eye, revealed a dense microvascular network confirming the diagnosis of CNV. After four monthly intravitreal injections, OCTA revealed a decrease of size and activity of CNV. OCTA is a valid, non-invasive, dyeless, and reliable method that could improve the diagnosis and management of CNV in child with Tuberous sclerosis.
The mechanistic target of rapamycin complex 1 (mTORC1) functions as a master regulator of cell growth and proliferation. We previously demonstrated that intracellular calcium ion (Ca) concentration modulates the mTORC1 pathway via binding of the Ca sensor protein calmodulin (CaM) to tuberous sclerosis complex 2 (TSC2), a critical negative regulator of mTORC1. However, the precise molecular mechanism by which Ca/CaM modulates mTORC1 activity remains unclear.
A 2-week-old, 2.6-kg neonate without tuberous sclerosis presented with a severe right ventricular outflow tract obstruction secondary to a large mass. Transthoracic echocardiography revealed a maximum right ventricular outflow tract gradient of at least 95 mmHg.
Lymphangioleiomyomatosis (LAM) is a cystic lung disease that primarily affects women. LAM is caused by the invasion of metastatic smooth muscle-like cells into the lung parenchyma, leading to abnormal cell proliferation, lung remodeling and progressive respiratory failure. LAM cells have TSC gene mutations, which occur sporadically or in people with Tuberous Sclerosis Complex.
Carly Hyde, University of California, Los Angeles; Logan Shurtz, University of Texas Southwestern Medical Center; Nicole McDonald, University of California, Los Angeles; Maria Pizzano, Loyola Marymount University; Charles A. Nelson, Boston Children's Hospital and Harvard Medical School; Elizabeth A. Thiele, Massachusetts General Hospital; Connie Kasari, University of California, Los Angeles; and Shafali Jeste, Children's Hospital Los Angeles.
Tuberous sclerosis complex (TSC) is a genetic condition characterized by both medical and neuropsychiatric diagnoses that emerge across the lifespan. As part of a clinical trial, caregivers of children with TSC were interviewed about their experiences navigating medical, school, and social services. Semistructured interviews (N = 20) with caregivers of children with TSC (27-60 months) were conducted upon exit from the study.
Introduction And Significance: Eosinophilic solid and cystic renal cell carcinoma (ESC RCC) is a rare renal tumor primarily associated with female patients and those with tuberous sclerosis complex (TSC). Despite lacking distinct clinical or radiological features, its unique histological characteristics allow for differentiation from other renal neoplasms. While it often exhibits indolent growth, metastatic potential remains a concern.
