Agenesis of the Corpus Callosum: Clinical and Genetic Study in 63 Young Patients

Bedeschi, Maria Francesca; Bonaglia, María Clara; Grasso, Rita; Pellegri, Alda; Garghentino, R.; Battaglia, Maria Amalia; Panarisi, Anna Maria; Rocco, Maja Di; Balottin, Umberto; Bresolin, Nereo; Bassi, Maria Teresa; Borgatti, Renato

doi:10.1016/j.pediatrneurol.2005.08.008

Cited by 143 publications

(146 citation statements)

References 37 publications

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“…20 Posterior fossa abnormalities were also a common additional finding, which has been observed in other studies of prenatally diagnosed ACC with fetal and/or postnatal MR imaging. 4,10,11,[28][29][30] Interestingly, cerebellar hemispheric abnormalities were more common than vermian abnormalities in our study, a finding that is similar to those in other prenatal MR imaging studies 4,10 but different from those in postnatal MR imaging studies, 20,31 perhaps due to the difficulty in evaluating the fetal vermis or due to termination of those cases with prenatally diagnosed cerebellar abnormalities. Brain stem abnormalities were also common, occurring in 33% of patients in our study.…”

Section: Discussionsupporting

confidence: 81%

Agenesis of the Corpus Callosum: An MR Imaging Analysis of Associated Abnormalities in the Fetus

Tang¹,

Bartha²,

Norton³

et al. 2008

AJNR Am J Neuroradiol

129

102

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BACKGROUND AND PURPOSE:Anomalies associated with callosal agenesis (ACC) found postnatally have been well documented. However, to our knowledge, no detailed MR imaging analysis of associated anomalies has been reported in a large cohort of fetuses with ACC. This study will assess those anomalies and compare them with postnatal cohorts of ACC, to identify associated fetal brain abnormalities that may give insight into etiology and outcome.

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Section: Discussionsupporting

confidence: 81%

Agenesis of the Corpus Callosum: An MR Imaging Analysis of Associated Abnormalities in the Fetus

Tang¹,

Bartha²,

Norton³

et al. 2008

AJNR Am J Neuroradiol

129

102

View full text Add to dashboard Cite

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“…It may present as an isolated condition with other common secondary effects including colpocephaly, Probst bundles and cingulate gyrus absence (Booth et al, 2011). It may also be associated with other brain malformations including hydrocephalus, grey matter heterotopia, holoprosencephaly, interhemispheric cysts, gyral abnormalities (Bedeschi et al, 2006), and neurological sequelea such as epilepsy, macro or microcephaly, hearing and vision impairments (Moes et al, 2009). The causes are heterogeneous, however, genetic conditions including singlegene and chromosomal abnormalities are reported (Edwards et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

Neural correlates of working memory in children and adolescents with agenesis of the corpus callosum: An fMRI study

et al. 2017

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A B S T R A C TThe ability to temporarily maintain relevant information in mind in the presence of interference or distracting information, also called working memory (WM), is critical for higher cognitive functions and cognitive development. In typically developing (TD) children, WM is underpinned by a fronto-parietal network of interacting left and right brain regions. Developmental absence (agenesis) of the corpus callosum (AgCC) is a congenital brain malformation resulting from disruption of corpus callosum formation. This study aims to investigate functional organisation of WM in children and adolescents with AgCC using functional magnetic resonance imaging (fMRI). Nine children with AgCC and a comparison group of sixteen TD children aged 8-17 years completed an fMRI WM paradigm designed to enable investigation of different WM processes, i.e., encoding, maintenance and retrieval. We found that AgCC children recruited globally similar brain regions as the TD comparison group during the WM task, despite significant disparity in brain development, i.e., bilateral occipitofrontal activations during verbal encoding, and bilateral fronto-parietal executive control network during retrieval. However, compared to their TD peers, children with AgCC seemed less able to engage lateralised brain systems specialised for particular memory material (i.e. less supramarginal activations for verbal material and less fusiform activations for face processing) and particular memory process (i.e. absence of right-predominant activations during retrieval). Group differences in the pattern of activation might also reflect different cognitive strategies to cope with competition in processing resources with different susceptibility to concurrent tasks (verbal vs visual), such as differential recruitment of associative visual areas and executive prefrontal regions in the AgCC compared with the TD group depending on the concurrent task completed during maintenance. This study provides a first step towards a better understanding of functional brain networks underlying higher cognitive functions in children with AgCC.

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“…For approximately 30-45% of individuals with agenesis of corpus callosum, the cause is identifiable (∼10% have chromosomal anomalies) and the remaining 20-35% have recognizable genetic syndromes. [6] Children with callosal conditions experience motor impairments such as hypotonia, spasticity, poor motor coordination and cerebral palsy. [7] Epilepsy and seizures are more common in these children and adolescents, with the reported prevalence varying from 27 to 86% depending on the population studied.…”

Section: Discussionmentioning

confidence: 99%

Corpur Callosum Dysgenesis : A Case Report

Gursale¹,

Gursale²

2015

jemds

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Agenesis of corpus callosum can have various neuropsychiatric and developmental manifestations. Following case report highlights the case of a young female child presenting with features of not ability to hold head and delayed speech. The child showed no other positive findings and is conscious and oriented at the time of examination. Following this complains the patient was subjected for a non-contrast MRI. Neuroimaging revealed agenesis of corpus callosum. There were no other findings which could explain the current situation experienced by the patient.

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Agenesis of the Corpus Callosum: Clinical and Genetic Study in 63 Young Patients

Cited by 143 publications

References 37 publications

Agenesis of the Corpus Callosum: An MR Imaging Analysis of Associated Abnormalities in the Fetus

Agenesis of the Corpus Callosum: An MR Imaging Analysis of Associated Abnormalities in the Fetus

Neural correlates of working memory in children and adolescents with agenesis of the corpus callosum: An fMRI study

Corpur Callosum Dysgenesis : A Case Report

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