Tuberous sclerosis complex (TSC) is a rare autosomal dominant disease characterized by multiple tumors throughout the body. Supratentorial hamartomas (or tubers), are a very common CNS feature of TSC. Cerebellar tubers are much less common in TSC. We present an interesting case of cerebellar tuber in a 14-year-old patient with TSC, highlighting clinical and diagnostic criteria for TSC and review the unique features of cerebellar tubers, differentiating these lesions from their more common supratentorial counterparts. This case serves as an educational tool to improve awareness of cerebellar tubers in patients with tuberous sclerosis.
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http://dx.doi.org/10.1016/j.radcr.2020.12.033 | DOI Listing |
Front Behav Neurosci
December 2024
Department of Biology, Miami University, Oxford, OH, United States.
World J Pediatr
December 2024
Pediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, 86156, Augsburg, Germany.
Purpose: Cancer predisposition syndromes are genetic disorders that significantly raise the risk of developing malignancies. Although the malignant manifestations of cancer predisposition syndromes are well-studied, recognizing their non-malignant features is crucial for early diagnosis, especially in children and adolescents.
Methods: A comprehensive literature search was conducted using the PubMed database, focusing on non-malignant manifestations of cancer predisposition syndromes in children and adolescents.
J Physiol
December 2024
Center for Learning and Memory, Department of Neuroscience, The University of Texas at Austin, Austin, TX, USA.
Cerebellar damage early in life often causes long-lasting motor, social and cognitive impairments, suggesting the roles of the cerebellum in developing a broad spectrum of behaviours. This recent finding has promoted research on how cerebellar damage affects the development of the cerebral cortex, the brain region responsible for higher-order control of all behaviours. However, the cerebral cortex is not directly connected to the cerebellum.
View Article and Find Full Text PDFThere is a striking sex bias in the prevalence and severity of autism spectrum disorder (ASD) with 80% of diagnoses occurring in males. Because the molecular etiology of ASD is likely combinatorial, including interactions across multiple genetic and environmental factors, it is difficult to investigate the physiological mechanisms driving sex-specific differences. Loss of function mutations in result in dysregulated mTORC1 signaling and underlie a multi-system disorder known as tuberous sclerosis (TSC).
View Article and Find Full Text PDFChildren (Basel)
May 2024
Edward B. Singleton Department of Radiology, Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA.
The goal of our study was to determine the incidence of cerebellar atrophy, assess the imaging findings in the posterior fossa and determine the incidence of hippocampal sclerosis in a cohort of pediatric patients with confirmed tuberous sclerosis complex (TSC). MRI studies of 98 TSC pediatric patients (mean age 7.67 years) were evaluated for cerebellar atrophy, cerebral/cerebellar tubers, white matter lesions, subependymal nodules, subependymal giant cell astrocytomas, ventriculomegaly, and hippocampal sclerosis.
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