Intracranial lipomas represent approximately 1% of intracranial lesions generally felt to represent the abnormal persistence of the meninx primitiva and are commonly accompanied by various developmental brain abnormalities. We report a case of midline intracranial lipoma and evolving frontal lobe fluid-attenuated inversion recovery (FLAIR) abnormality concerning for glial neoplasm in a patient with intractable epilepsy. Our case shows evolving magnetic resonance imaging (MRI) features over two decades raising suspicion for low-grade neoplasm which was ultimately found to represent cortical dysplasia.
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http://dx.doi.org/10.7759/cureus.2728 | DOI Listing |
BMC Mol Cell Biol
January 2025
Department of Stomatology, The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, 150001, China.
Background: Inactivation or mutations of FAM20C causes human Raine Syndrome, which manifests as lethal osteosclerosis bone dysplasia or non-lethal hypophosphatemia rickets. However, it is only hypophosphatemia rickets that was reported in the mice with Fam20c deletion or mutations. To further investigate the local and global impacts of Fam20c mutation, we constructed a knock-in allele carrying Fam20c mutation (D446N) found in the non-lethal Raine Syndrome.
View Article and Find Full Text PDFAdv Sci (Weinh)
December 2024
Institute for Translational Brain Research, State Key Laboratory of Medical Neurobiology, MOE Frontiers Center for Brain Science, Institute of Pediatrics, National Children's Medical Center, Children's Hospital, Fudan University, Shanghai, 200032, China.
Focal cortical dysplasia (FCD) is a highly heterogeneous neurodevelopmental malformation, the underlying mechanisms of which remain largely elusive. In this study, personalized dorsal and ventral forebrain organoids (DFOs/VFOs) are generated derived from brain astrocytes of patients with FCD type II (FCD II). The pathological features of dysmorphic neurons, balloon cells, and astrogliosis are successfully replicated in patient-derived DFOs, but not in VFOs.
View Article and Find Full Text PDFNeuropediatrics
December 2024
Great Ormond Street Hospital for Children, London, United Kingdom of Great Britain and Northern Ireland.
We describe a set of monozygotic twins with GRIN2B-related neurodevelopmental disorder (GRIN2B-ND) who exhibited distinct clinical and imaging characteristics due to a de novo heterozygous pathogenic variant in the GRIN2B gene (c.2453T>C, p.Met818Thr).
View Article and Find Full Text PDFEpilepsia
December 2024
Department of Neuroradiology, University Hospital Bonn, Bonn, Germany.
Objective: Focal cortical dysplasia (FCD) is a common cause of drug-resistant focal epilepsy but can be challenging to detect visually on magnetic resonance imaging. Three artificial intelligence models for automated FCD detection are publicly available (MAP18, deepFCD, MELD) but have only been compared on single-center data. Our first objective is to compare them on independent multicenter test data.
View Article and Find Full Text PDFSci Rep
December 2024
Developmental Neurosciences, Great Ormond Street Institute of Child Health, University College London, London, UK.
Network hypersynchrony is emerging as an important system-level mechanism underlying seizures, as well as cognitive and behavioural impairments, in children with structural brain abnormalities. We investigated patterns of single neuron action potential behaviour in 206 neurons recorded from tubers, transmantle tails of tubers and normal looking cortex in 3 children with tuberous sclerosis. The patterns of neuronal firing on a neuron-by-neuron (autocorrelation) basis did not reveal any differences as a function of anatomy.
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