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Calvarial Thickening in Tuberous Sclerosis Complex.
World Neurosurg
December 2024
Department of Neurosurgery, Osaka University Graduate School of Medicine, Suita, Japan.
Article Synopsis
- Tuberous sclerosis complex (TSC) patients often have significant skull thickening, which can complicate surgical procedures like craniotomy, making awareness crucial for neurosurgeons.
- A study analyzed MRI data from TSC patients aged 10 to 60 to compare skull thickness with two control groups (patients with and without anti-seizure medications).
- Findings revealed that TSC patients exhibited thicker frontal and temporal bones, with skull thickening linked to intracerebral calcification, indicating a potential common cause that warrants further research into genetic factors and related skeletal issues.
Responsive Neurostimulation for the Treatment of Children With Drug-Resistant Epilepsy in Tuberous Sclerosis Complex.
Pediatr Neurol
August 2023
Section of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas. Electronic address:
Background: To review seizure outcomes in children with tuberous sclerosis complex (TSC) and drug-resistant epilepsy (DRE) treated with the responsive neurostimulation (RNS) System.
Methods: We retrospectively reviewed children (<21 years old) with TSC implanted with the RNS System at Texas Children's Hospital between July 2016 and May 2022.
Results: Five patients meeting the search criteria were identified (all female).
De novo mutation of the TSC2 gene in patient with Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) Phenotype: a case report.
Ann Med Surg (Lond)
May 2023
Genetics Working Group.
Unlabelled: Tuberous sclerosis complex (TSC) is a neurocutaneous disease caused by a mutation in the or gene. There are several neuropsychiatric manifestations associated with TSC known as TSC-associated neuropsychiatric disorder (TAND). This article concerns neuropsychiatric manifestations in children with the gene mutation, with genetic analysis findings using whole-exome sequencing.
View Article and Find Full Text PDFTubers Affecting the Fusiform Face Area Are Associated with Autism Diagnosis.
Ann Neurol
March 2023
Center for Brain Circuit Therapeutics, Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Objective: Tuberous sclerosis complex (TSC) is associated with focal brain "tubers" and a high incidence of autism spectrum disorder (ASD). The location of brain tubers associated with autism may provide insight into the neuroanatomical substrate of ASD symptoms.
Methods: We delineated tuber locations for 115 TSC participants with ASD (n = 31) and without ASD (n = 84) from the Tuberous Sclerosis Complex Autism Center of Excellence Research Network.
[Breasts and congenital chest-wall deformities: Surgical strategy with 3D implants].
Ann Chir Plast Esthet
November 2022
Service de chirurgie plastique reconstructrice et esthétique CHU Toulouse Rangueil, 1, avenue Jean-Poulhès, TSA 50032, 31059 Toulouse cedex 9, France.
Computer-aided design and manufacturing of custom-made elastomer implants leads from a CT scan to fill in with precision, a congenital chest wall congenital deformity, both bone (pectus excavatum) and muscle (Poland Syndrome), resulting in a natural repositioning of the breasts. We report our 25 years' experience in 301 women (234 Pectus+64 Poland). Parietal correction must always be done in first intention.
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