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Published in Swati Goyal, Neuroradiology, 2020
Focal cortical dysplasia is a non-enhancing focal area of abnormal brain development, presenting as subcortical white matter hyperintensities and blurred gray−white matter interface. Sometimes, the hyperintensity extends from the subcortical area to the ventricular margin (“transmantle” sign).
Subthalamic nucleus and substantia nigra pars reticulata stimulation: the Grenoble experience
Published in Hans O Lüders, Deep Brain Stimulation and Epilepsy, 2020
Alim-Louis Benabid, Adnan Koudsie, Stephan Chabardes, Laurent Vercueil, Abdelhamid Benazzouz, Lorella Minotti, Jean-François Le Bas, Philippe Kahane, Anne de Saint Martin, Edouard Hirsch
This was an 8-year-old boy suffering from a right fronto-central partial epilepsy due to a Mitchell’s cortical dysplasia. The follow-up was 26 months and a 70% reduction of the number of seizures occurred with HFS of the STN. Seizures started at 5 months of age, initially as generalized myoclonia or tonic-clonic seizures. The seizure frequency progressively increased and at age 4 he had almost daily, partial bilateral tonic motor seizures, predominantly on the left side. These seizures were preceded by a poorly described subjective feelings (internal tremor in the lower limbs), mostly nocturnal. MRI was normal, and a depth electrode investigation led to the diagnosis at a right frontal epilepsy. A right fronto-precentral lobectomy up to the precentral sulcus was performed. Pathology revealed features in favor of a non-Taylor cortical dysplasia. Surgery did not modify the seizure rate and a progressive left hemicorporeal motor deficit occurred, mostly after the occurrence of severe clusters of seizures.
Central nervous system
Published in Dave Maudgil, Anthony Watkinson, The Essential Guide to the New FRCR Part 2A and Radiology Boards, 2017
Dave Maudgil, Anthony Watkinson
Are the following statements regarding imaging in epilepsy true or false? Hippocampal sclerosis is best assessed on fine-cut axial T2 MR images.Hippocampal sclerosis is associated with ipsilateral atrophy of the fornix.Areas of cortical dysplasia usually have a small amount of mass effect.Juvenile myoclonic epilepsy usually shows no abnormality on conventional imaging.Cerebral cavernous haemangiomas often present with epilepsy.
Clinicopathological Analysis of Sturge–Weber Syndrome with Focal Cortical Dysplasia FCD IIIc
Published in Fetal and Pediatric Pathology, 2023
Juan Cao, Guocheng Yang, Shoujun Xu, Pengyue Tang, Yue Wang, Yingying Shan, Yongxian Chen, Peng He
Cortical dysplasia in SWS is considered to be the origin of epilepsy, so the complete resection of the lesion site of FCD is one of the indicators for the prognosis of epilepsy control effect in this type of surgery [13]. The efficacy of postoperative seizure control may not be optimal if only the leptomeningeal angiomatosis and its subcortical tissue are removed. According to the new classification of FCD proposed by the ILAE in 2017, FCD with vascular malformations, such as cavernous hemangioma, arteriovenous malformations, and leptomeningeal angiomatosis, but without balloon-like cells, was defined as FCD IIIc. Immunohistochemical staining of NF and vimentin is more specific in identifying abnormal morphologies of neurons and balloon-like cells in FCD lesions and can help pathologists diagnose FCD. MRI showed focal cortical thickening, gray matter disambiguation, and focal cortical signal enhancement on both the T2 and the fluid attenuation-reversal recovery sequences. The nonspecific nature of the FCD imaging findings may also be one of the reasons why only a few SWS with FCD have been reported. Although these findings are not specific, they are indicative of cortical dysplasia and are consistent with histopathological findings. These abnormal signals are frequently disregarded before surgery, which may be contributed to by the physicians focus only on the typical characteristics of SWS, and not considering the possibility of FCD. The number of reported cases of SWS in combination with cortical developmental malformations should increase once physician understanding of these disorders improves.
Neuropsychological and Social Characteristics of a 7 Year Old Child with Hypomelanosis of Ito Followed for 11 Years
Published in Developmental Neuropsychology, 2022
George P. Prigatano, Alexandra Novak, Vinodh Narayanan
The underlying brain mechanisms responsible for these developmental changes remain undetermined. Somatic mosaicism has been sufficiently thought to influence brain development that an NIMH-funded Brain Somatic Mosaicism Network (BSMN) has been established (Paquola, Erwin, & Gage, 2017). Disturbances in normal neuronal thinning or loss during brain development may contribute to cortical dysplasia reported in some patients with HI (Carmignac et al., 2021). Mosaic chromosomal anomalies may also contribute to specific cell abnormalities, especially those involving frontal cortex neurons (Paquola et al., 2017). These disturbances can further lead to neuronal migration disorders, which may contribute to neurodevelopmental disease (D’Gama & Walsh, 2018). It is interesting to note that, while rote verbal learning and memory appeared relatively unaffected in this patient with HI, the ability of this patient to recall multiple details and accurately relate and remember details and concepts of a story read to him did not appear to develop normally via teacher and parent’s descriptions of his academic difficulties. Frontal cortex mediated brain systems have been repeatedly implicated in this type of complex memory function (Moscovitch & Winocur, 2002).
Maternal Germline Mosaicism of a de Novo TUBB2B Mutation Leads to Complex Cortical Dysplasia in Two Siblings
Published in Fetal and Pediatric Pathology, 2022
Complex cortical dysplasia with other brain malformations-7 (a.k.a. polymicrogyria) is a clinically heterogeneous condition that begins before birth with abnormal development of the brain. In these patients, the brain folds are much smaller than usual. Part or all of the brain can be involved and clinical severity is directly proportional to the affected part of the brain [1]. Some prominent findings include microcephaly, limited extraocular movements, sialorrhea, oromotor dyspraxia, cortical malformations of the brain, contralateral hemiparesis, congenital seizures, delayed motor development, cognitive delay, learning difficulties, abnormalities of the corpus callosum, cerebellar hypoplasia, movement abnormalities, and brainstem abnormalities. Complex cortical dysplasia is an autosomal dominant or recessive polyphenotypic disorder and can be caused by mutations TUBA1A, TUBA8, TUBB2B, TUBB3, or TUBB5 [2]. These genes encode tubulin proteins, and several missense and nonsense mutations generally result in tubulinopathies [3]. The beta subunit of tubulin, encoded by the TUBB2B gene, plays a role in microtubular development [4]. Microtubules are important to bind and hydrolyze GTP which provides migration and differentiation of the neurons [5]. TUBB2B gene is highly expressed in the brain [6]. We present a Turkish family with complex cortical dysplasia with other brain malformations-7 (Phenotype MIM number: 610031) caused by a de novo TUBB2B mutation. While parents are healthy, the detection of the same mutation in the TUBB2B gene in both siblings suggest germline mosaicism in one of the parents.