We report on a 9-year-old boy who developed subependymal giant-cell astrocytoma associated with tuberous sclerosis. Remarkably, the boy was not mentally retarded and never had suffered from seizures. Apart from white skin patches symptoms of increased intracranial pressure were the presenting symptoms. The boy's mother, who was present at the boy's admission, presented with skin lesions typical of tuberous sclerosis. The importance of thorough examination of apparently asymptomatic relatives of patients with tuberous sclerosis is emphasized.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Characteristics and outcomes of patients with LAM receiving sirolimus in France based on real-life data.
Front Med (Lausanne)
January 2025
Department of Respiratory Medicine, Reference Centre for Rare Pulmonary Diseases, APHP, Hôpital Avicenne, INSERM U 1272, Université Sorbonne Paris-Nord, Bobigny, France.
LAM is a rare multi-cystic lung disease for which treatment with sirolimus is indicated in cases of moderate or severe lung disease or declining lung function. The aim of this study was to describe patients treated with sirolimus for LAM and their outcomes. This retrospective observational study was based on data from the French national health insurance data system (SNDS).
View Article and Find Full Text PDFBrain-related sexual dimorphism in tuberous sclerosis complex: an overlooked matter.
Trends Mol Med
January 2025
University of Coimbra, Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Coimbra, Portugal; University of Coimbra, Institute for Nuclear Sciences Applied to Health (ICNAS), Coimbra, Portugal; University of Coimbra, Institute of Physiology, Faculty of Medicine, Coimbra, Portugal. Electronic address:
Biological sex strongly impacts tuberous sclerosis complex (TSC) symptoms like epilepsy and autism. However, the mechanisms driving this influence remain largely unknown. Here, we discuss how sex-specific changes in brain synapses and neural networks may drive these differences, offering insights that could be crucial for developing targeted therapies for TSC.
View Article and Find Full Text PDFBackground: 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 PDFGPNMB expression differentiates subependymal giant cell astrocytoma from other mimickers.
Ann Diagn Pathol
January 2025
Department of Pathology, Affiliated Jinling Hospital, Medical School of Nanjing University, Nanjing 210002, China. Electronic address:
Subependymal giant cell astrocytomas (SEGAs) are neoplasms that exhibit slow growth patterns and are closely associated with tuberous sclerosis complex (TSC). Recent research indicates that TFE3/TFEB-targeted biomarker glycoprotein nonmetastatic B (GPNMB) is upregulated inTSC1/2-related tumours. In this study, we performed molecular analysis on SEGAs and analyzed GPNMB expression in 6 SEGAs, 10 PXAs, 9 GBMs, 8 eGBMs, 8 diffuse astrocytomas, 8 oligodendrogliomas and 7 glioneuronal tumours through immunohistochemistry, 100 % (6/6) of the SEGA cases exhibited positive GPNMB expression, whereas it was negative in all other CNS tumours.
View Article and Find Full Text PDFParenting Stress in Tuberous Sclerosis Complex.
Pediatr Neurol
December 2024
Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, Texas.
Background: Tuberous sclerosis complex (TSC) is a multisystemic genetic disorder with clinical variability. As the needs of children with TSC may differ, parenting demands may similarly differ. Characterizing parenting stress, or emotional maladaptation from parenting duties, can enable health care providers to assist parents of children with TSC.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!