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Epilepsy, Acquired Aphasia with Focal Cortical Dysplasia
Girija A.S,Somanath V
Annals of Indian Academy of Neurology , 1999,
Abstract: A six year old boy having complex partial seizures with secondary generalization of four months duration developing isolated expressive dysphasia, later progressing to global aphasia is being reported. His awake EEG showed a left temporal spike wave discharge and sleep EEG showed continuous spike and ware discharges. MR imaging demonstrated focal cortical dysplasia in the left frontal and opercular region, a combination that has not been reported earlier.
Dual Pathology in Rasmussen’s Encephalitis: A Report of Coexistent Focal Cortical Dysplasia and Review of the Literature
Richard A. Prayson
Case Reports in Pathology , 2012, DOI: 10.1155/2012/569170
Abstract: Rasmussen’s encephalitis is a well-established, albeit rare cause of medically intractable epilepsy. In a small number of Rasmussen's cases, a second pathology is identified, which independently can cause medically intractable seizures (dual pathology). This paper documents a case of a 13-year-old male who presented with medically intractable epilepsy. The patient underwent a series of surgical resections, early on resulting in a diagnosis of focal cortical dysplasia and later yielding a diagnosis of coexistent Rasmussen’s encephalitis, marked by chronic inflammation, microglial nodules, and focal cortical atrophy, combined with focal cortical dysplasia (Palmini et al. type IIA, ILAE type IIA). The literature on dual pathology in the setting of Rasmussen’s encephalitis is reviewed.
Dual Pathology in Rasmussen’s Encephalitis: A Report of Coexistent Focal Cortical Dysplasia and Review of the Literature  [PDF]
Richard A. Prayson
Case Reports in Pathology , 2012, DOI: 10.1155/2012/569170
Abstract: Rasmussen’s encephalitis is a well-established, albeit rare cause of medically intractable epilepsy. In a small number of Rasmussen's cases, a second pathology is identified, which independently can cause medically intractable seizures (dual pathology). This paper documents a case of a 13-year-old male who presented with medically intractable epilepsy. The patient underwent a series of surgical resections, early on resulting in a diagnosis of focal cortical dysplasia and later yielding a diagnosis of coexistent Rasmussen’s encephalitis, marked by chronic inflammation, microglial nodules, and focal cortical atrophy, combined with focal cortical dysplasia (Palmini et al. type IIA, ILAE type IIA). The literature on dual pathology in the setting of Rasmussen’s encephalitis is reviewed. 1. Introduction Rasmussen’s encephalitis is a rare, progressive disorder of childhood associated with hemispheric atrophy, intellectual decline, and hemiparesis [1–3]. It is a well-established cause of medically intractable seizures, often necessitating surgical resection after failed attempts at pharmacologic management of the seizures [4–6]. Although the pathologic findings often resemble that of a viral encephalitis, attempts at identifying a viral etiology have been mixed and reliable identification of an offending infectious agent has not been successful. Given the presence of autoantibodies in many cases, particularly GluR3 autoantibodies, a variety of immunotherapy treatments have been attempted with varied success [7–9]. In large series studying tissues resected in the setting of medically intractable epilepsy, a variety of other pathologies have been more commonly identified. In most series, the most commonly identified pathologies include mesial temporal or hippocampal sclerosis (in patients with temporal lobe epilepsy), focal cortical dysplasia, tumors, and remote infarcts/ischemic damage [10–13]. In a subset of these cases, dual pathology or coexistent pathologies has been noted—patients in whom two or more pathologies are identified in the histopathological examination of resected tissues, each of which could independently account for the seizures. Only rare cases of dual pathology involving Rasmussen’s encephalitis as one of the pathologies have been reported [14–19]. The current paper documents an unusual case which was initially diagnosed as focal cortical dysplasia; the patient underwent a series of seven surgical procedures for intractable epilepsy before a diagnosis of concomitant Rasmussen’s encephalitis was made. The literature documenting dual pathology
White Matter Abnormalities in Patients with Focal Cortical Dysplasia Revealed by Diffusion Tensor Imaging Analysis in a Voxelwise Approach  [PDF]
Guilherme Garlipp Tedeschi,Luiz Eduardo Betting,Fernando Cendes
Frontiers in Neurology , 2012, DOI: 10.3389/fneur.2012.00121
Abstract: Background: Diffusion tensor imaging (DTI) allows the analysis of changes in microstructure, through the quantification of the spread and direction of water molecules in tissues. We used fractional anisotropy (FA) maps to compare the integrity of WM between patients and controls. The objective of the present study was to investigate WM abnormalities in patients with frontal lobe epilepsy secondary to focal cortical dysplasia (FCD). Materials and Methods: We included 31 controls (12 women, 33.1 ± 9.6 years, mean ± SD) and 22 patients (11 women, 30.4 ± 10.0 years), recruited from our outpatient clinic. They had clinical and EEG diagnosis of frontal lobe epilepsy, secondary to FCD detected on MRI. Patients and controls underwent 3T MRI, including the DTI sequence, obtained in 32 directions and b value of 1000 s/mm2. To process the DTI we used the following softwares: MRIcroN and FSL/TBSS (tract-based spatial statistics). We used a threshold-free cluster enhancement with significance at p < 0.05, fully corrected for multiple comparisons across space. Results: Areas with FA reduction in patients were identified in both hemispheres, mainly in the frontal lobes, cingulum, and forceps minor (p = 0.014), caudate e anterior thalamic radiation (p = 0.034), superior longitudinal fasciculus (p = 0.044), uncinate fasciculus, and inferior fronto-occipital fasciculus (p = 0.042). Conclusion: Our results showed a widespread pattern of WM microstructural abnormalities extending beyond the main lesion seen on MRI (frontal lobe), which may be related to frequent seizures or to the extent of MRI-invisible portion of FCD.
Displasia cortical focal, aspectos neurofisiológicos, imaginológicos e histológicos
Camargo, Daiane Piccolotto Carvalho;Palmini, André;Paglioli, Eliseu;Torres, Carolina;Alves, Wiliam;Schilling, Lucas;Silva, Vinícios Duval da;Becker, Albert;Carvalho, Rosany Piccolotto;Costa, Jaderson Costa da;
Journal of Epilepsy and Clinical Neurophysiology , 2010, DOI: 10.1590/S1676-26492010000300005
Abstract: introduction: focal cortical dysplasia is one of the most common ways of malformation of the cortical development where they are intimate related among hard control epilepsy on children and adults. it's characterized by peculiar histological, imaginological and electrophysiological amendment. purpose: to make a succinct review of the main aspects of imaginological, histological and neurophysiologic focal cortical dysplasias. method: bibliographic review. conclusion: the focal cortical dysplasias have peculiar clinical features. the prevalence of refractory epilepsy among focal cortical dysplasia patients is highly elevated. the skull magnetic resonance image (mri) presents specific amendments to the disease that could be normal in many cases and correlates with histological results. continuous discharges and high frequency paroxistic bursts are highly pointed as epilepsy due the focal cortical dysplasia.
A Dysmorphic Child with a Pericentric Inversion of Chromosome 8
Venkateshwari Ananthapur,Srilekha Avvari,Sujatha Madireddi,Pratibha Nallari,Jyothy Akka
Case Reports in Pediatrics , 2012, DOI: 10.1155/2012/813963
Abstract: An 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of generalized seizure disorder. Cytogenetic evaluation of the proband revealed a pericentric inversion of chromosome 8 with 46, XY, and inv 8 (p11.2; q21.2) karyotype.
A Dysmorphic Child with a Pericentric Inversion of Chromosome 8  [PDF]
Venkateshwari Ananthapur,Srilekha Avvari,Sujatha Madireddi,Pratibha Nallari,Jyothy Akka
Case Reports in Pediatrics , 2012, DOI: 10.1155/2012/813963
Abstract: An 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of generalized seizure disorder. Cytogenetic evaluation of the proband revealed a pericentric inversion of chromosome 8 with 46, XY, and inv 8 (p11.2; q21.2) karyotype. 1. Introduction Pericentric inversions are among the frequent chromosomal rearrangements associated with genetic disorders with a frequency of 1-2% [1, 2]. Pericentric inversions result from a two-break event which occurs between the short (p) and the long arms (q) within the chromosome followed by a 180° rotation of the intercalary segment. The phenotype of the inversion carrier depends on the type of inversion, size of the inverted part, and the chromosome involved [3]. In this report, we describe the distinct clinical phenotype and the karyotype of a boy with dysmorphic facial features and mild mental retardation associated with a pericentric inversion of chromosome 8. 2. Case Report An 8-year-old male child with dysmorphic facies and mild mental retardation was referred to the Institute of Genetics, Hyderabad for cytogenetic evaluation. He was born after full term as the third child in the sibship of nonconsanguineous parents. He had delayed developmental milestones, neck holding at the age of 5 months, walking independently at the age of 2 years and 5 months, and started speech at the age of 3 years and 5 months. The dysmorphic facial features included mild lupeus, micrognathia, low-hair line, hypoplasia, hemiatrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. His external genitalia were normal. Psychological evaluation of the child was carried out using Senguin form board and Vineland Social maturity physical examination scale [4]. The intelligent quotient was found to be 64 indicative of mild mental retardation. MRI Scan report of the propositus was normal, but his EEG study was suggestive of generalized seizure disorder. He had hyperactive behavior with slurred speech. It is informed that the boy was frightened by loud sounds and is presently attending a special school. Chromosomal analysis of peripheral blood lymphocytes was performed using GTG banding for the propositus and their parents [5, 6]. A rearranged chromosome was observed in the propositus with pericentric inversion of chromosome 8 with break point at p 11.2 and q 21.2 regions
The influence of pericentric inversion in 10th chromosome on aggressive behavior and hyperactivity  [cached]
Nilgun Tanriverdi,Ayfer Pazarbasi,Dilara Karahan,Ayse Avci
Cukurova Medical Journal , 2013,
Abstract: Aggressive behavior and hyperactivity are neurodevelopmental diseases with unknown pathogenesis. Pericentric inv(10)(p11.2;q21.2) mutation is frequently encountered in cytogenetic laboratories. This mutation is accepted as a polymorphic variant and is phenotypically silent, but in some cases it has been associated with neurodevelopmental diseases like autism. After blood culturing, standard chromosome obtaining procedure was applied to patients. In this study, clinical and cytogenetical findings of a boy with developmental delay, mental and motor retardation, attention deficit and hyperactivity have been reported. As a result of chromosome analysis, on chromosome 10, a large pericentric inversion between p11.1 and q22.q bands has been found. Karyotype analysis was also performed to mother, father and siblings of the patient and they have been found to have normal karyotype. It is plausible to consider a relation between inv(10) and some behavioral problems. Additionally, molecular studies targeting 10p-q critical region will be more informative for the true identification of this disease. [Cukurova Med J 2013; 38(1.000): 108-113]
Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster
Devin P Locke, Nicoletta Archidiacono, Doriana Misceo, Maria Cardone, Stephane Deschamps, Bruce Roe, Mariano Rocchi, Evan E Eichler
Genome Biology , 2003, DOI: 10.1186/gb-2003-4-8-r50
Abstract: Here we employed a comparative fluorescence in situ hybridization approach, using probes selected from a combination of physical mapping, genomic sequence, and segmental duplication analyses to narrow the breakpoint interval of a pericentric inversion in chimpanzee involving the orthologous human 15q11-q13 region. We have refined the inversion breakpoint of this chimpanzee-specific rearrangement to a 600 kilobase (kb) interval of the human genome consisting of entirely duplicated material. Detailed analysis of the underlying sequence indicated that this region comprises multiple segmental duplications, including a previously characterized duplication of the alpha7 neuronal nicotinic acetylcholine receptor subunit gene (CHRNA7) in 15q13.3 and several Golgin-linked-to-PML, or LCR15, duplications.We conclude that, on the basis of experimental data excluding the CHRNA7 duplicon as the site of inversion, and sequence analysis of regional duplications, the most likely rearrangement site is within a GLP/LCR15 duplicon. This study further exemplifies the genomic plasticity due to the presence of segmental duplications and highlights their importance for a complete understanding of genome evolution.The karyotypes of humans and the African and Asian great apes are remarkably well conserved, with relatively few large-scale chromosomal changes among these species despite the considerable phenotypic and biological differences between hominoids [1-3]. This conservation is particularly relevant in comparisons between the human (Homo sapiens; HSA) and common chimpanzee (Pan troglodytes; PTR) genomes, for in order to completely ascertain the evolution of our own lineage it is necessary to understand what differentiates us at the genomic level from our closest relatives. Furthermore, insight into the mechanism(s) underlying primate chromosomal evolution can be obtained from the molecular characterization of species-specific rearrangement breakpoints. Recent analyses of synteny disrup
Porencephaly and cortical dysplasia as cause of seizures in a dog
Gisele Fabrino Machado, Maria-Gisela Laranjeira, Augusto Schweigert, Guilherme Dias de Melo
BMC Veterinary Research , 2012, DOI: 10.1186/1746-6148-8-246
Abstract: A one-year-old intact male Shih-Tzu dog was referred to Veterinary University Hospital with history of abnormal gait and generalized tonic-clonic seizures. Signs included hypermetria, abnormal nystagmus and increased myotatic reflexes. At necropsy, during the brain analysis, a cleft was observed in the left parietal and occipital lobes, creating a communication between the subarachnoid space and the left lateral ventricle, consistent with porencephaly; and also a focal atrophy of the caudal paravermal and vermal portions of the cerebellum. Furthermore, the histological examination showed cortical and cerebellar neuronal dysplasia.Reports of seizures due to porencephaly are rare in dogs. In this case, the dog presented a group of brain abnormalities which per se or in assemblage could result in seizure manifestation.Seizures are a common problem in small animal neurology and it may be related to underlying diseases. Brain anomaly associated with seizures was described in 4.16% of 240 dogs in a retrospective study [1].Porencephaly is an extremely rare disorder of the central nervous system (CNS) involving a cavity filled with cerebrospinal fluid (CSF), in the brain's parenchyma, usually connecting the ventricles to the brain surface. The lesion is associated with ischemic or hemorrhagic episodes and is characterized by a cavity, or cavitations in brain tissue, of variable size and location, given different names according to presumed mechanism and morphology [2]. Extensive porencephaly communicates through the subarachnoid space to the ventricles, which shows similar morphological findings to those of open-lip schizencephaly. Patients with these two types of defective lesions present with severe developmental delays and intractable epilepsy [3]. Cavitation in schizencephaly is lined by dysplastic cortex, usually associated with polymicrogyria [4].??Comparing??with??hydranencephaly,??porencephaly?describes less extensive defect in the cerebral walls, which may not comm
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