Background: Epilepsy remains a significant public health concern in Sub-Saharan Africa (SSA) where diverse etiological factors contribute to its prevalence. Among these factors are conditions originating from the neuroectoderm, such as tuberous sclerosis. Insufficient medical attention and a lack of comprehensive multidisciplinary care contribute to its under-recognition.
Materials And Methods: We conducted a retrospective descriptive study, involving 12 patients admitted to the neurology and pediatric departments of the University Hospital Ignace Deen between 2010 and 2022 due to recurring epileptic seizures. Subsequently, these patients were diagnosed with Tuberous sclerosis using the Schwartz 2007 criteria. The aim of this study is to reassess this condition from a clinical and paraclinical point of view in a tropical environment.
Results: Tuberous sclerosis, also known as Bourneville disease, was diagnosed in 12 patients exhibiting focal motor seizures and complex focal seizures likely associated with cortical and subcortical tubers detectable by EEG and neuroimaging, including CT and MRI. Delayed treatment resulted in varying degrees of mental decline. Additionally, some patients displayed cardiac hamartomas and intracranial posterior and anterior aneurysms as minor diagnostic indicators.
Conclusion: The study reveals a consistent clinical presentation accompanied by deteriorating neurological and psychological symptoms attributed to delayed multidisciplinary management. These findings are utilized to assess therapeutic strategies and prognostic outcomes.
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http://dx.doi.org/10.1016/j.ensci.2024.100516 | DOI Listing |
Diseases
December 2024
Department of Pediatrics, Dokkyo Medical University, Tochigi 321-0293, Japan.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by mutations in the TSC1 and TSC2 genes, leading to the dysregulation of the mammalian target of rapamycin (mTOR) pathway. This dysregulation results in the development of benign tumors across multiple organ systems and poses significant neurodevelopmental challenges. The clinical manifestations of TSC vary widely and include subependymal giant cell astrocytomas (SEGAs), renal angiomyolipomas (AMLs), facial angiofibromas (FAs), and neuropsychiatric conditions such as autism spectrum disorder (ASD).
View Article and Find Full Text PDFFront Med (Lausanne)
December 2024
Department of Medicine, Service of Nephrology, Fribourg State Hospital, Fribourg, Switzerland.
Aim Of The Study: Tuberous sclerosis complex (TSC) is a genetic and multisystemic disorder that affects between 1/6'000 and 1/10'000 of newborns. Clinical criteria and/or genetic analysis establish the diagnosis. The mechanistic target of rapamycin (mTOR) inhibitors everolimus or sirolimus reduce the severity of several TSC-related clinical traits.
View Article and Find Full Text PDFAnn Child Neurol Soc
June 2024
Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Objective: Tuberous sclerosis complex (TSC) results from overactivity of the mechanistic target of rapamycin (mTOR). Sirolimus and everolimus are mTOR inhibitors that treat most facets of TSC but are understudied in infants. We sought to understand the safety and potential efficacy of preventative sirolimus in infants with TSC.
View Article and Find Full Text PDFMol Genet Genomics
December 2024
Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the formation of benign tumors in various organs, particularly in the central nervous system. We aimed to delineate the molecular profile of Turkish individuals diagnosed with TSC by analyzing the TSC1 and TSC2 genes using next-generation sequencing (NGS). Sophia Genetics' Sophia Inherited Disease Panel was used to perform NGS on 22 individuals diagnosed with TSC and to identify pathogenic variants in the TSC1 and TSC2 genes.
View Article and Find Full Text PDFJ Biol Chem
December 2024
Graduate School of Bioagricultural Sciences, Nagoya University, Furo-cho, Chikusa, Nagoya, Japan. Electronic address:
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.
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