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Distinct peripheral pro-inflammatory profile associated with tuberous sclerosis complex and epilepsy.
Epilepsia
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 PDFA Novel Case of Pulmonary Sclerosing Diffuse PEComatosis With Neuroendocrine Cell Hyperplasia.
Am 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 PDFTuberous sclerosis complex-associated kidney disease in children.
Pediatr 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.
View Article and Find Full Text PDFNewborn With Refractory Seizures Due To Hemimegalencephaly And Tuberous Sclerosis Complex: Case Report and Literature Review.
Neuropediatrics
January 2025
Neonatology, Leiden University, Leiden, Netherlands.
Background Hemimegalencephaly (HME) is a rare congenital disorder that is initiated during embryonic development with abnormal growth of one hemisphere. Tuberous sclerosis complex (TSC), a genetic disorder, is rarely associated with HME. Methods We present a case of a newborn with HME with a confirmed mutation in the TSC-1 gene and describe the clinical course, findings on (amplitude integrated) electroencephalography (aEEG), cranial ultrasound (CUS), MRI, and the postmortem evaluation.
View Article and Find Full Text PDFFetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in gene: A case report.
Radiol Case Rep
March 2025
Department of Obstetrics and Gynecology, Bokoi Tenshi Hospital, N12E3, Higashi-Ku, Sapporo, Hokkaido, 060-0012, Japan.
Fetal cardiac tumors are often the first clinical manifestation of tuberous sclerosis (TS) when fetal ultrasound screening is performed. TS is an autosomal dominant disorder caused by the mutations in or genes. Here we report a case of a patient with a fetal and neonatal cardiac tumor who underwent a genetic analysis for TS after birth.
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