The Experts below are selected from a list of 387 Experts worldwide ranked by ideXlab platform

Jeffrey H. Wisoff - One of the best experts on this subject based on the ideXlab platform.

  • Cystic choroid plexus papilloma in the Cavum Septum Pellucidum.
    Journal of Neurosurgery, 2009
    Co-Authors: Alexander Tuchman, Stephen P. Kalhorn, Irina Mikolaenko, Jeffrey H. Wisoff
    Abstract:

    A choroid plexus papilloma is a rare CNS neoplasm arising from the neuroepithelial lining of the choroid plexus. A third ventricular location of a choroid plexus papilloma is rare compared with the more common sites in the lateral and fourth ventricles. Cystic choroid plexus papilloma represents an infrequent subtype that may present diagnostic ambiguity. The authors present a case of cystic choroid plexus papilloma within a Cavum Septum Pellucidum that radiographically mimicked neurocysticercosis.

Clarissa Trzesniak - One of the best experts on this subject based on the ideXlab platform.

  • are Cavum Septum Pellucidum abnormalities more common in schizophrenia spectrum disorders a systematic review and meta analysis
    Schizophrenia Research, 2011
    Co-Authors: Clarissa Trzesniak, Irismar Reis De Oliveira, Matthew J Kempton, Amanda Galvaode Almeida, Marcos Hortes Nisihara Chagas, Maria Cecilia Freitas Ferrari, Alaor Santos Filho, Antonio Waldo Zuardi
    Abstract:

    Abstract Magnetic resonance imaging (MRI) studies have reported a variety of brain abnormalities in association with schizophrenia. These include a higher incidence of Cavum Septum Pellucidum (CSP), which is consistent with a neurodevelopmental model for this disorder. In this meta-analytic review, we describe and discuss the main CSP MRI findings in schizophrenia spectrum disorders (SSDs) to date. We adopted as keywords Cavum and schizophrenia or psychosis, and the inclusion criteria were articles in English, with samples of SSD patients compared to healthy subjects, which used MRI to assess CSP, without time limit. From 18 potential reports, fifteen were eligible to be part of the current review. These studies included 1054 patients with SSD and 866 healthy volunteers. Six out of 15 studies pointed to a higher prevalence of CSP of any size in SSD patients, while five out of 15 showed that subjects with SSD had a greater occurrence of a large CSP than healthy individuals. However, the meta-analysis demonstrated that only the incidence of a large CSP was significantly higher in SSD relative to healthy comparisons (odds ratio = 1.59; 95%CI 1.07–2.38; p = 0.02). Overall our results suggest that only a large CSP is associated with SSD while a small CSP may be considered a normal neuroanatomical variation. Our review revealed a large degree of variability in the methods employed across the MRI studies published to date, as well as evidence of publication bias. Studies in large, community-based samples with greater standardization of methods should clarify the true significance of CSP in SSD.

Charles Raybaud - One of the best experts on this subject based on the ideXlab platform.

  • CASE REPORT Syndrome of Megalencephaly, Polydactyly, and Polymicrogyria Lacking Frank Hydrocephalus, with Associated MR Imaging Findings
    2016
    Co-Authors: Huseyin Gurkan Tore, V A Nagar, B Lohman, Chip Truwit, Charles Raybaud
    Abstract:

    SUMMARY: Megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome has been recently recognized and is very rare. Each case reported so far has demonstrated hydrocephalus to varying degrees. We report an infant with MPPH syndrome, but lacking frank hydrocephalus. The additional finding of an abnormally elongated pituitary infundibulum has not been described in this syndrome and, along with the presence of a regressing cystic Cavum Septum Pellucidum, suggests that chronic underlying hydrocephalus may have been present. Megalencephaly, polymicrogyria, polydactyly, and hydro-cephalus (MPPH) syndromewas first described in 2004, with only 9 cases reported so far; hence, the prevalence has not yet been determined.1,2 Hydrocephalus has been considered a mandatory component of this syndrome.1-4 We report a pa-tientwithmacrocephaly, polymicrogyria, andpolydactyly, but without overt hydrocephalus. We also report an elongated pi-tuitary infundibulum along with a regressing cystic Cavum Septum Pellucidum (CSP); cystic CSP has been described pre-viously in MPPH, but without reports of regression.2,5,6 W

  • syndrome of megalencephaly polydactyly and polymicrogyria lacking frank hydrocephalus with associated mr imaging findings
    American Journal of Neuroradiology, 2009
    Co-Authors: Huseyin Gurkan Tore, Alexander M Mckinney, V A Nagar, B Lohman, Chip Truwit, Charles Raybaud
    Abstract:

    Megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome has been recently recognized and is very rare. Each case reported so far has demonstrated hydrocephalus to varying degrees. We report an infant with MPPH syndrome, but lacking frank hydrocephalus. The additional finding of an abnormally elongated pituitary infundibulum has not been described in this syndrome and, along with the presence of a regressing cystic Cavum Septum Pellucidum, suggests that chronic underlying hydrocephalus may have been present.

Harald Bode - One of the best experts on this subject based on the ideXlab platform.

  • biallelic szt2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum
    American Journal of Human Genetics, 2013
    Co-Authors: Lina Baselvanagaite, Tova Hershkovitz, Eli Heyman, Miquel Raspallchaure, Naseebullah Kakar, Pola Smirinyosef, Marta Vilapueyo, Liora Kornreich, Holger Thiele, Harald Bode
    Abstract:

    Epileptic encephalopathies are genetically heterogeneous severe disorders in which epileptic activity contributes to neurological deterioration. We studied two unrelated children presenting with a distinctive early-onset epileptic encephalopathy characterized by refractory epilepsy and absent developmental milestones, as well as thick and short corpus callosum and persistent Cavum Septum Pellucidum on brain MRI. Using whole-exome sequencing, we identified biallelic mutations in seizure threshold 2 (SZT2) in both affected children. The causative mutations include a homozygous nonsense mutation and a nonsense mutation together with an exonic splice-site mutation in a compound-heterozygous state. The latter mutation leads to exon skipping and premature termination of translation, as shown by RT-PCR in blood RNA of the affected boy. Thus, all three mutations are predicted to result in nonsense-mediated mRNA decay and/or premature protein truncation and thereby loss of SZT2 function. Although the molecular role of the peroxisomal protein SZT2 in neuronal excitability and brain development remains to be defined, Szt2 has been shown to influence seizure threshold and epileptogenesis in mice, consistent with our findings in humans. We conclude that mutations in SZT2 cause a severe type of autosomal-recessive infantile encephalopathy with intractable seizures and distinct neuroradiological anomalies.

Matcheri S Keshavan - One of the best experts on this subject based on the ideXlab platform.

  • common variants of nrxn1 lrp1b and rora are associated with increased ventricular volumes in schizophrenia and bipolar disorder
    European Neuropsychopharmacology, 2019
    Co-Authors: Ney Alliey, Elliot S Gershon, Tamar A Grey, Rebecca Shafee, Neeraj Tandon, Lucas Coppes, Sarah K Keedy, Steven A Mccarroll, Godfrey D Pearlson, Matcheri S Keshavan
    Abstract:

    Background Schizophrenia, schizoaffective and bipolar disorder probands share many behavioral and biological traits including brain morphology features, as well as a partially overlapping complex polygenic basis. Ventricular volume enlargement is one of the most enduring anatomical findings in these disorders, representing a quantitative trait associated with severity. Methods We performed GWAS on a multi-ethnic sample from the Bipolar and Schizophrenia Network for Intermediate Phenotypes study (B-SNIP1) containing 1,115 unrelated cases and controls. FreeSurfer-processed volumes from structural MRI were used as quantitative phenotypes in GWAS with PsychChip genotypes imputed to the 1000 Genomes reference panel. Results Genome-wide significance was reached in associations with two regional volumes within the ventricular system: (1) The volume of the Temporal Horn of the Left Lateral Ventricle was associated with a SNP marker of NRXN1 (P= 1.156E-11), and (2) The volume of the Cavum Septum Pellucidum was associated with markers in LRP1B (P=1.661E-11) and RORA (P=1.72E-10). Discussion NRXN1 rare structural variants have been already associated with psychosis and cognition, but this is the first report of common SNP variants associated with increased ventricular volume. Presumably, the observed NRNX1 effect on temporal horn volume reflects shared regulation of morphometric characteristics of the surrounding limbic structures of the medial temporal lobe, not evident when these structures are considered separately. Previous research associated Cavum Septum Pellucidum persistence with schizophrenia, and this is the first report of a common genetic variant associated with its persistence related to neuropsychiatric disease. Co-expression analysis of NRXN1 and LRP1B identified genes involved in cell adhesion and neurotransmission. Our findings represent novel genetic associations implicated in the molecular basis of neuropsychiatric disorders at the stage of brain development.

  • abnormalities of the corpus callosum in nonpsychotic children with chromosome 22q11 deletion syndrome
    NeuroImage, 2004
    Co-Authors: Vandana Shashi, Srirangam Muddasani, Cesar Santos, Margaret N Berry, Thomas R Kwapil, Eve Lewandowski, Matcheri S Keshavan
    Abstract:

    Chromosome 22q11 deletion syndrome (22q11DS) is associated with elevated rates of schizophrenia and other psychoses in adulthood. Childhood morphologic brain abnormalities are frequently reported, but the significance of these and their relationship to the development of schizophrenia are unclear. We sought to delineate midline neuroanatomical abnormalities in nonpsychotic children with 22q11DS and their age- and sex-matched controls and compare these to those reported in individuals with schizophrenia. On qualitative analysis, we found a high incidence of midline developmental abnormalities (Cavum Septum Pellucidum, or CSP). On quantitative analysis, the total corpus callosum (CC) area was significantly increased in the patient group and among the subregions, the patients had a significantly larger isthmus. These findings of an increased area of the corpus callosum, specifically the isthmus, have not been reported before in individuals with 22q11DS. We also found a relative lack of the age-related increase in the size of the corpus callosum in the children with 22q11DS. There were no differences in cerebellar vermis measurements between the patient and control groups. Our findings are indicative of frequent midline brain anomalies, including dysgenesis of the corpus callosum, in nonpsychotic children with 22q11DS. Although the increased size of the corpus callosum in our 22q11DS patients is in direct contrast to the decrease seen in schizophrenia, the high frequency of structural midline abnormalities in these nonpsychotic children with 22q11DS is similar to that seen in schizophrenia. Further longitudinal studies on these children will help determine which of these structural abnormalities is/are pertinent to the development of psychosis.