We report the case of a child who presented at 3 months of age with complex partial seizures, a linear facial nevus, and magnetic resonance imaging (MRI) showing delayed myelination and thickened cortex in the left temporal, parietal, and occipital regions. A repeat 3Tesla MRI scan with and without contrast at 6 months again showed cortical dysplasia of the left hemisphere. No other abnormalities were seen. A third scan at 3 years 6 months showed a 2.5 cm, round, hyperintense lesion on both T(2) and T(1) sequences. The lesion and surrounding dysplastic cortex were resected. Palmini grade IIA dysplasia and a ganglioglioma were diagnosed. These findings suggest that cellular components of cortical dysplasias have oncogenic potential.
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http://dx.doi.org/10.1111/j.1528-1167.2011.03124.x | DOI Listing |
Epilepsia
December 2024
Department of Pediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, full member of the European Reference Network EpiCARE, Prague, Czech Republic.
Objective: We comprehensively characterized a large pediatric cohort with focal cortical dysplasia (FCD) type 1 to expand the phenotypic spectrum and to identify predictors of postsurgical outcomes.
Methods: We included pediatric patients with histopathological diagnosis of isolated FCD type 1 and at least 1 year of postsurgical follow-up. We systematically reanalyzed clinical, electrophysiological, and radiological features.
Clin Neuroradiol
September 2024
Institute for Neuroradiology, Johann Wolfgang Goethe-University, Theodor Stern Kai 7, 60590, Frankfurt am Main, Germany.
Purpose: Polymicrogyria (PMG) is a cortical malformation frequently associated with epilepsy. Our aim was to investigate the frequency and conspicuity of enlarged perivascular spaces (EPVS) underneath dysplastic cortex as a potentially underrecognized feature of PMG in pediatric and adolescent patients undergoing clinical magnetic resonance imaging (MRI).
Methods: We analyzed data from 28 pediatric and adolescent patients with PMG and a matched control group, ranging in age from 2 days to 21 years, who underwent MRI at 1.
Genes (Basel)
May 2024
Department of Anatomy, Histology and Embryology, University of Split School of Medicine, 21000 Split, Croatia.
Approximately half of the cases of chronic kidney disease (CKD) in childhood are caused by congenital anomalies of the kidney and urinary tract (CAKUT). Specific genes were identified as having significant importance in regard to the underlying genetic factors responsible for the CAKUT phenotype, and in our research, we focused on analyzing and comparing the expression levels of ectodysplasin A2 receptor (EDA2R), protocadherin9 (PCDH9), and TNF receptor-associated factor 7 (TRAF7) proteins in the cortex and medulla of healthy control kidneys during developmental phases 2, 3, and 4. We also performed an analysis of the area percentages of the mentioned proteins in the cortical and medullary sections of healthy embryonic and fetal kidneys compared to those affected by CAKUT, including duplex kidneys (DK), horseshoe kidneys (HK), hypoplastic kidneys (HYP), and dysplastic kidneys (DYS).
View Article and Find Full Text PDFAutism Res
July 2024
Department of Developmental Neurobiology, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.
This review highlights a key role of the serotonergic system in brain development and in distortions of normal brain development in early stages of fetal life resulting in cascades of abnormalities, including defects of neurogenesis, neuronal migration, neuronal growth, differentiation, and arborization, as well as defective neuronal circuit formation in the cortex, subcortical structures, brainstem, and cerebellum of autistic subjects. In autism, defects in regulation of neuronal growth are the most frequent and ubiquitous developmental changes associated with impaired neuron differentiation, smaller size, distorted shape, loss of spatial orientation, and distortion of cortex organization. Common developmental defects of the brain in autism include multiregional focal dysplastic changes contributing to local neuronal circuit distortion, epileptogenic activity, and epilepsy.
View Article and Find Full Text PDFMedicine (Baltimore)
January 2024
Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, P. R. China.
Rationale: Lhermitte-Duclos disease (LDD), or dysplastic cerebellar gangliocytoma (DCG), is a rare tumor originating from the cerebellar cortex. LDD is a benign neuroglial tumor with uncertain prognosis. Over 200 cases have been reported in the literature mostly in the form of case reports.
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