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Background: Rhabdomyoma is the most common cardiac tumor in fetal life. It has frequent association with tuberous sclerosis complex and may lead to heart failure, a potentially fatal condition. The use of transplacental sirolimus, a mTOR inhibitor, has emerged as a novel treatment in symptomatic fetal rhabdomyomas, there are, though, only few cases described.
View Article and Find Full Text PDFTuberous sclerosis complex: one disorder, three generations and an assortment of radiological and clinical presentations.
BMJ Case Rep
January 2025
Medicine, Government Medical College Kota, Kota, Rajasthan, India.
This case report presents markedly different clinical and radiological manifestations of the same disease in a family over three consecutive generations with varying treatment strategies. The index case/proband primarily presented with gastrointestinal symptoms, including diarrhoea, bleeding per rectum and seizures. Further evaluation revealed bilateral renal angiomyolipoma and cerebral subependymal nodules, in conjunction with facial adenoma sebaceum, periungual fibromas and hypomelanotic ash-leaf macules.
View Article and Find Full Text PDFImmature Smooth Muscle Infiltration in Sporadic Lymphangioleiomyomatosis: A Case Study.
S 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 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 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.
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