Agenesis of Corpus Callosum

Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.

Also Known As:

Corpus Callosum Dysgenesis; Corpus Callosum Hypogenesis; Corpus Callosum Malformation; Corpus Callosum, Agenesis Of; Ageneses, Corpus Callosum; Agenesis, Corpus Callosum; Corpus Callosum Absence; Corpus Callosum Absences; Corpus Callosum Ageneses; Corpus Callosum Dysgeneses; Corpus Callosum Hypogeneses; Dysgeneses, Corpus Callosum; Dysgenesis, Corpus Callosum; Hypogeneses, Corpus Callosum; Hypogenesis, Corpus Callosum; Absence of Corpus Callosum; Corpus Callosum Agenesis

Networked: 54 relevant articles (1 outcomes, 3 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hydrocephalus (Hydrocephaly)
2.	Microcephaly
3.	Intellectual Disability (Idiocy)
4.	Cataract (Cataracts)
5.	Polymicrogyria

Experts

1.	Attié-Bitach, Tania: 2 articles (09/2021 - 04/2007)
2.	Laquerrière, Annie: 2 articles (09/2021 - 09/2013)
3.	Martinovic, Jelena: 2 articles (09/2021 - 09/2013)
4.	Saugier-Veber, Pascale: 2 articles (01/2021 - 09/2013)
5.	Rouleau, Guy A: 2 articles (10/2019 - 01/2013)
6.	Sherr, Elliott H: 2 articles (10/2019 - 02/2012)
7.	Moutard, Marie-Laure: 2 articles (01/2014 - 03/2012)
8.	Alfiya, F: 1 article (01/2022)
9.	Banerjee, Moinak: 1 article (01/2022)
10.	Chandrasekharan, Soumya V: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Agenesis of Corpus Callosum:

1.	salicylhydroxamic acid (SHAM)IBA 01/01/2022 - "Efficacy of transcranial Direct Current Stimulation (tDCS) combined with intensive speech therapy for language production in monozygotic twins with corpus callosum dysgenesis (CCD): A sham-controlled single subject study."
2.	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 01/01/2022 - "The findings of this study suggest a potential possibility of L1CAM gene screening for prenatal diagnoses for fetuses presented corpus callosum agenesis accompanied with hydrocephalus." 01/01/2022 - "In this study, a L1CAM gene exonic missense variant (c.1108G > A, p.G370R) was identified in two induced fetuses (abnormal fetuses), who presented corpus callosum agenesis accompanied with hydrocephalus. " 01/01/2021 - "A moderate phenotype with mild intellectual disability (ID) and X-linked partial corpus callosum agenesis (CCA) has only been related to L1CAM in one family. " 01/01/2021 - "X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant." 09/01/2013 - "Seventy-nine cases had no L1CAM mutations; these were subdivided into four groups: (1) hydrocephalus sometimes associated with corpus callosum agenesis (44 %); (2) atresia/forking of the aqueduct of Sylvius/rhombencephalosynapsis spectrum (27 %); (3) syndromic hydrocephalus (9 %), and (4) phenocopies with no mutations in the L1CAM gene (20 %) and in whom family history strongly suggested an autosomal recessive mode of transmission. "
3.	Cadherins (E-Cadherin)IBA 10/03/2019 - "Our study demonstrates that de novo heterozygous variants in CDH2 impair the adhesive activity of N-cadherin, resulting in a multisystemic developmental disorder, that could be named ACOG syndrome (agenesis of corpus callosum, axon pathfinding, cardiac, ocular, and genital defects)."
4.	Retinaldehyde (Retinal)IBA 09/01/2023 - "Teaching Neuroimage - Aicardi Syndrome: A Triad of Epileptic Spasms, Agenesis of Corpus Callosum, and Chorio-Retinal Lacunae." 01/01/2001 - "In addition, absence of corpus callosum, conductive hearing loss, choroidal and retinal coloboma,cranio-facial defects as well as brachydactyly,clinodactyly, camptodactyly and other skeletal anomalies were reported. " 10/01/1999 - "We present the cases of two sisters, daughters of healthy, non-consanguineous parents, who have a clinical syndrome characterized by microcephaly, cortical dysplasia, ventriculomegaly, hypoplasia of the corpus callosum, hypogenesis of the cerebellar vermis, cataracts, microphthalmia, optic nerve atrophy, retinal coloboma, weight and height below 3rd centile, severe mental retardation, no speech, inability to sit, no sphincter control and a spastic tetraparesis. "
5.	Chloride Channels (Chloride Channel)IBA 12/01/2021 - "This long-term retrospective follow-up study aimed to address the knowledge gap between prenatal diagnosis of complete isolated Agenesis of Corpus Callosum (cACC) at fetal MRI and postnatal neurodevelopmental outcome to improve prenatal counseling for parents. " 08/01/2019 - "Seventeen of 36 fetuses were diagnosed complete agenesis of corpus callosum (CACC) (47.2%), 9 had partial agenesis of corpus callosum (PACC) (25%) and 10 was dysgenesis of the corpus callosum (DCC) (27.2%) at ultrasonography (US) examination. "
6.	TubulinIBA 07/01/2013 - "Our case confirm that the spectrum of tubulin-related cortical phenotypes is wide and that the screening of these genes should be implemented in patients with mid-hindbrain dysgenesis, partial of complete corpus callosum agenesis and varying degrees of cortical abnormalities." 07/01/2023 - "Recently, mutations in tubulin isotypes (TUBA1A, TUBB, TUBB1, TUBB2A, TUBB2B, TUBB3, and TUBG1) have been linked to cause various neurodevelopmental defects like lissencephaly, microcephaly, cortical dysplasia, polymicrogyria, schizencephaly, subcortical band heterotopia, periventricular heterotopia, corpus callosum agenesis, and cerebellar hypoplasia. "
7.	Transcription Factors (Transcription Factor)IBA 01/01/2021 - "We have previously shown that loss of RP58 (ZNF238 or ZBTB18), a BTB/POZ-zinc finger-containing transcription factor, in the mouse brain leads to microcephaly, corpus callosum agenesis, and cerebellum hypoplasia and that it is required for normal neuronal differentiation. " 04/01/2007 - "Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis."
8.	Cocaine (Cocaine HCl)IBA 12/01/2005 - "We report the case of a newborn presenting an agenesis of corpus callosum (ACC) discovered in the prenatal period and initially related to cocaine exposure during the first trimester of gestation. " 12/01/2005 - "[Cocaine and trisomy 8 associated with prenatal diagnosis of corpus callosum agenesis]." 09/01/2009 - "The following risk conditions were assessed in the papers: prematurity, cerebral palsy, Down syndrome, intrauterine cocaine exposure and agenesis of corpus callosum. "
9.	vedolizumabIBA 12/01/2022 - "Three cases of corpus callosum agenesis (CCA) were identified for vedolizumab (versus none in CZP and other investigated non-TNFi biologics). " 01/01/2017 - "A congenital corpus callosum agenesis anomaly was reported in one live birth from a healthy volunteer with extensive obstetric history exposed to single-dose vedolizumab 79 days before estimated conception. "
10.	Dexmedetomidine FDA Link 07/01/2018 - "Here, we report a case of corpus callosum agenesis syndrome undergoing upper endoscopy under deep sedation with dexmedetomidine. "

Therapies and Procedures

1.	Transcranial Direct Current Stimulation 01/01/2022 - "The purpose of this single subject study was to investigate whether transcranial direct current stimulation (tDCS) applied to both hemispheres combined with speech therapy can improve language learning in a pair of 5-year-old twins with corpus callosum dysgenesis (CCD). " 01/01/2022 - "Efficacy of transcranial Direct Current Stimulation (tDCS) combined with intensive speech therapy for language production in monozygotic twins with corpus callosum dysgenesis (CCD): A sham-controlled single subject study."
2.	Speech Therapy (Therapy, Speech) 01/01/2022 - "The purpose of this single subject study was to investigate whether transcranial direct current stimulation (tDCS) applied to both hemispheres combined with speech therapy can improve language learning in a pair of 5-year-old twins with corpus callosum dysgenesis (CCD). " 01/01/2022 - "Efficacy of transcranial Direct Current Stimulation (tDCS) combined with intensive speech therapy for language production in monozygotic twins with corpus callosum dysgenesis (CCD): A sham-controlled single subject study."
3.	Metastasectomy 09/01/2020 - "A treatment-sparing approach was adopted for 6 patients with severe intellectual impairment to minimize toxicity: a child with postpartum asphyxia and medulloblastoma did not receive radiotherapy; 1 patient with mitochondrial encephalopathy and a testicular germ cell tumor did not receive bleomycin and lung metastasectomy; 2 patients (1 with Down + West syndrome + Wilms tumor (WT) and 1 with Denys-Drash syndrome + WT) did not receive vincristine; 1 child with corpus callosum agenesis and anaplastic ependymoma did not receive chemotherapy; 1 child with structural chromosomal aberrations and a primitive neuro-ectodermal tumor received personalized chemotherapy. "
4.	Deep Sedation 07/01/2018 - "Here, we report a case of corpus callosum agenesis syndrome undergoing upper endoscopy under deep sedation with dexmedetomidine. "
5.	Colonic Pouches (S Pouch) 01/01/2014 - "The purpose of this article is to discuss some common cerebral lesions that may be detected during prenatal screening: corpus callosum dysgenesis, absent septum pellucidum, localized parenchymal ischemic-hemorrhagic lesions, megacisterna magna, Blake's pouch cyst, posterior fossa arachnoid cyst and Dandy-Walker malformation. "