4,893 results match your criteria Corpus Callosum Agenesis

Intra- and inter-hemispheric structural connectome in agenesis of the corpus callosum.

Neuroimage Clin 2021 Jun 5;31:102709. Epub 2021 Jun 5.

Institute of Bioengineering, Ecole Polytechnique Fédérale de Lausanne, Switzerland; Department of Radiology and Medical Informatics, University of Geneva, Geneva, Switzerland; Brain and Mind Research, Clinical Sciences, Murdoch Children's Research Institute, Melbourne, Australia; Division of Development and Growth, Department of Paediatrics, Faculty of Medicine, University of Geneva, Switzerland. Electronic address:

Agenesis of the corpus callosum (AgCC) is a congenital brain malformation characterized by the complete or partial failure to develop the corpus callosum. Despite missing the largest white matter bundle connecting the left and right hemispheres of the brain, studies have shown preserved inter-hemispheric communication in individuals with AgCC. It is likely that plasticity provides mechanisms for the brain to adjust in the context of AgCC, as the malformation disrupts programmed developmental brain processes very early on. Read More

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Exposure to alirocumab during the first trimester of pregnancy: A case report.

Birth Defects Res 2021 Jun 8. Epub 2021 Jun 8.

Service of Endocrinology, Diabetes and Metabolism, Department of Medicine, Lausanne University Hospital & University of Lausanne, Lausanne, Switzerland.

Background: Familial hypercholesterolemia can be efficiently treated with combined lipid-lowering drugs. Lipid-lowering drugs are usually withdrawn for pregnancy and breastfeeding, ideally preconception, followed by lipid apheresis, however, careful plans can be precipitated due to unexpected pregnancy.

Case: A 28-year old woman with familial hypercholesterolemia due to heterozygous LDLR mutations had an LDL-cholesterol level at 14. Read More

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Chromatin remodeler regulates subplate neuron identity and wiring of cortical connectivity.

Proc Natl Acad Sci U S A 2021 May;118(21)

Michigan Neuroscience Institute, University of Michigan, Ann Arbor, MI 48109;

Loss-of-function mutations in chromatin remodeler gene are a cause of Coffin-Siris syndrome, a developmental disorder characterized by dysgenesis of corpus callosum. Here, we characterize function during cortical development and find unexpectedly selective roles for in subplate neurons (SPNs). SPNs, strategically positioned at the interface of cortical gray and white matter, orchestrate multiple developmental processes indispensable for neural circuit wiring. Read More

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Loss of all three APP family members during development impairs synaptic function and plasticity, disrupts learning, and causes an autism-like phenotype.

EMBO J 2021 Jun 19;40(12):e107471. Epub 2021 May 19.

Department of Functional Genomics, Institute of Pharmacy and Molecular Biotechnology, Heidelberg University, Heidelberg, Germany.

The key role of APP for Alzheimer pathogenesis is well established. However, perinatal lethality of germline knockout mice lacking the entire APP family has so far precluded the analysis of its physiological functions for the developing and adult brain. Here, we generated conditional APP/APLP1/APLP2 triple KO (cTKO) mice lacking the APP family in excitatory forebrain neurons from embryonic day 11. Read More

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Complete agenesis of the corpus callosum in phacomatosis pigmentovascularis cesioflammea: a manifestation of mosaicism?

Eur J Dermatol 2021 Apr;31(2):248-249

Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, Centre Hospitalier Universitaire Dijon Bourgogne, Dijon, France, UMR Inserm 1231 Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France, Centre de Référence MAGEC, Service de Dermatologie, Centre Hospitalier Universitaire Dijon Bourgogne, Dijon, France.

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A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis.

Child Neurol Open 2021 Jan-Dec;8:2329048X211006511. Epub 2021 Apr 23.

Department of Radiology, Kırıkkale University Faculty of Medicine, Kırıkkale, Turkey.

Mowat-Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung disease, genital and ophthalmological anomalies, and congenital cardiac anomalies. Herein, a case of 1-year-old boy with isolated agenesis of corpus callosum (IACC) in the prenatal period is presented. He was admitted postnatally with Hirschsprung disease (HSCR), hypertelorism, uplifted earlobes, deeply set eyes, frontal bossing, oval-shaped nasal tip, ''M'' shaped upper lip, opened mouth and prominent chin, and developmental delay. Read More

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A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia.

J Pediatr Genet 2021 Jun 28;10(2):159-163. Epub 2020 May 28.

Department of Pediatrics, University of Szeged, Szeged, Hungary.

Microlissencephaly is a brain malformation characterized by microcephaly and extremely simplified gyral pattern. It may be associated with corpus callosum agenesis and pontocerebellar hypoplasia. In this case report, we described two siblings, a boy and a girl, with this complex brain malformation and lack of any development. Read More

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Clinical and Biochemical Features of Hypopituitarism Among Brazilian Children With Zika Virus-Induced Microcephaly.

JAMA Netw Open 2021 May 3;4(5):e219878. Epub 2021 May 3.

Department of Pediatrics, Ribeirao Preto Medical School, University of Sao Paulo, Sao Paulo, Brazil.

Importance: The Zika virus infects progenitor neuron cells, disrupts cerebral development, and, in mice, drives hypothalamic defects. Patients with microcephaly caused by congenital Zika infection present with midline cerebral defects, which may result in hypopituitarism.

Objective: To analyze postnatal growth and the presence of clinical and biochemical features associated with hypopituitarism in children with congenital Zika infections. Read More

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Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel mutation in different clinical manifestations.

Eur J Ophthalmol 2021 May 12:11206721211016306. Epub 2021 May 12.

Department of Medical Genetics, School of Medicine, Dokuz Eylul University, Izmir, Turkey.

Purpose: Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy and severe brain and eye malformations. This study aims to analyze genotype-phenotype correlations in WWS with a novel cytidine diphosphate-l-ribitol pyrophosphorylase A () mutation in different clinical manifestations.

Case Description: We report a girl with a presentation of multiple brain and ocular anomalies. Read More

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Alexithymia and Somatization in Agenesis of the Corpus Callosum.

Soc Cogn Affect Neurosci 2021 May 11. Epub 2021 May 11.

Fuller Graduate School of Psychology, Travis Research Institute, Pasadena, CA, USA.

Deficient communication between the cerebral hemispheres is one of several prevailing neurobiological explanations for alexithymia and has been strongly supported by research on patients with commissurotomy. We examined self-reported symptoms of alexithymia in adults with agenesis of the corpus callosum (AgCC), a condition characterized by more subtle reductions in interhemispheric transfer than in commissurotomy. 16 adults with AgCC and FSIQ > 80 were compared with 15 age- and IQ-matched neurotypical controls. Read More

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Bilateral epileptic networks in congenital and acquired corpus callosum defects: EEG-fMRI study.

Epilepsy Behav 2021 Jul 6;120:107986. Epub 2021 May 6.

Neurological Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

Objectives: Electroencephalography-correlated functional magnetic resonance imaging (EEG-fMRI) allows imaging of brain-wide epileptic networks, and demonstrates that focal interictal epileptic activity is sometimes accompanied by bilateral functional activations. The corpus callosum (CC) facilitates bilateral spread of epileptic activity and at times targeted surgically for drug-resistant epilepsy (DRE). We hypothesized that focal epileptic networks are more unilateral in patients lacking intact CC. Read More

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The evolution, formation and connectivity of the anterior commissure.

Semin Cell Dev Biol 2021 May 3. Epub 2021 May 3.

The University of Queensland, The Queensland Brain Institute, Brisbane, Australia; The School of Biomedical Sciences, Brisbane, Australia. Electronic address:

The anterior commissure is the most ancient of the forebrain interhemispheric connections among all vertebrates. Indeed, it is the predominant pallial commissure in all non-eutherian vertebrates, universally subserving basic functions related to olfaction and survival. A key feature of the anterior commissure is its ability to convey connections from diverse brain areas, such as most of the neocortex in non-eutherian mammals, thereby mediating the bilateral integration of diverse functions. Read More

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The phenotypic spectrum associated with OTX2 mutations in humans.

Eur J Endocrinol 2021 05 25;185(1):121-135. Epub 2021 May 25.

Section of Molecular Basis of Rare Disease, Genetics and Genomic Medicine Research & Teaching Department, UCL Great Ormond Street Institute of Child Health, London, UK.

Objective: The transcription factor OTX2 is implicated in ocular, craniofacial, and pituitary development.

Design: We aimed to establish the contribution of OTX2 mutations in congenital hypopituitarism patients with/without eye abnormalities, study functional consequences, and establish OTX2 expression in the human brain, with a view to investigate the mechanism of action.

Methods: We screened patients from the UK (n = 103), international centres (n = 24), and Brazil (n = 282); 145 were within the septo-optic dysplasia spectrum, and 264 had no eye phenotype. Read More

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Magnetic Resonance Imaging Findings in Fetal Corpus Callosal Developmental Abnormalities: A Pictorial Essay.

J Pediatr Neurosci 2020 Oct-Dec;15(4):352-357. Epub 2021 Jan 19.

Department of Fetal Medicine, Mediscan Systems, Chennai, Tamil Nadu, India.

The corpus callosum is the principal supratentorial cerebral commissure, which connects the two cerebral hemispheres in the midline. It is divided into rostrum, genu, body, and splenium. Affected patients may develop mental retardation, dysmorphic features, spasticity, ataxia, or epilepsy. Read More

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January 2021

CEP135 associated primary Microcephaly-A rare presentation in early second trimester.

Eur J Med Genet 2021 Apr 30;64(7):104233. Epub 2021 Apr 30.

Department of Anatomy, Apollo Institute of Medical Sciences and Research, Jublee Hills, Hyderabad, India. Electronic address:

Primary microcephaly (MCPH) is a rare neurogenic disorder with most cases being inherited in an autosomal recessive pattern. The present report is of a case of second gravid patient with recurrent fetal microcephaly with agenesis of corpus callosum, cerebellar hypoplasia and ventriculomegaly. Maternal TORCH profile and amniotic fluid chromosomal microarray were normal. Read More

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[Spontaneous periodic hypothermia syndrome: A systematic review of the literature].

Rev Med Interne 2021 Apr 28. Epub 2021 Apr 28.

Service de médecine interne, CHU de Saint-Étienne, 42055 Saint-Étienne cedex, France.

Introduction: Periodic spontaneous hypothermia syndrome (PSHS), also known as hypersudation-hypothermia syndrome, is a rare condition characterised by the occurrence of paroxysmal attacks of spontaneous hypothermia occurring without age limit. Few studies have attempted to synthesise the available data on PSHS. The objective of this study was to summarize the literature on this condition. Read More

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Demographic, ocular and associated neurological findings in corpus callosum malformations.

Turk J Pediatr 2021 ;63(2):291-299

Department of Ophthalmology, Ankara University Faculty of Medicine, Ankara, Turkey.

Background: The corpus callosum is a primary commissural part of the brain which connects the two hemispheres. Processing sensory, motor, visuo-motor and cognitive functions are related to a healthy connection. In this study, we aimed to evaluate the ocular, neurologic and other systemic findings of corpus callosum malformations and to focus on the association between the ocular and neurological findings and the type of callosal malformation according to cranial magnetic resonance imaging (MRI). Read More

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January 2021

Early loss of Scribble affects cortical development, interhemispheric connectivity and psychomotor activity.

Sci Rep 2021 Apr 27;11(1):9106. Epub 2021 Apr 27.

Université de Bordeaux, INSERM, Neurocentre Magendie, U1215, 33077, Bordeaux, France.

Neurodevelopmental disorders arise from combined defects in processes including cell proliferation, differentiation, migration and commissure formation. The evolutionarily conserved tumor-suppressor protein Scribble (Scrib) serves as a nexus to transduce signals for the establishment of apicobasal and planar cell polarity during these processes. Human SCRIB gene mutations are associated with neural tube defects and this gene is located in the minimal critical region deleted in the rare Verheij syndrome. Read More

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RP58 represses transcriptional programs linked to non-neuronal cell identity and glioblastoma subtypes in developing neurons.

Mol Cell Biol 2021 Apr 26. Epub 2021 Apr 26.

Weill Cornell Medical College, Department of Neurological Surgery, New York

How mammalian neuronal identity is progressively acquired and reinforced during development is not understood. We have previously shown that loss of RP58 (ZNF238, ZBTB18), a BTB/POZ and zinc finger containing transcription factor, in the mouse brain leads to microcephaly, corpus callosum agenesis, cerebellum hypoplasia and that it is required for normal neuronal differentiation. The transcriptional programs regulated by RP58 during this process are not known. Read More

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Episodic headache with spontaneous hypothermia reveal Shapiro's syndrome variant with effectiveness of clonidine therapy.

J Headache Pain 2021 Apr 26;22(1):30. Epub 2021 Apr 26.

Department of Neurology and Center of Expertise in Parkinson's disease, University Hospital of Amiens, CHU Amiens-Picardie, 80 054 Cedex 1, Amiens, France.

Background: Episodic headache with spontaneous hypothermia constitute an uncommon association and is not well recognized in the International Classification of Headache Disorders (ICHD-3). Spontaneous periodic hypothermia, also called Shapiro's syndrome, is a rare disease characterized by hypothermia attacks associated or not with hyperhidrosis without any triggering factor.

Case Presentation: We report a rare case of Shapiro's syndrome variantrevealed by episodes of headache with spontaneous hypothermia witheffectiveness of clonidine therapy in a 76-year-old Parkinson's disease woman. Read More

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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.

Am J Hum Genet 2021 May 23;108(5):951-961. Epub 2021 Apr 23.

Service de Génétique, Centre Hospitalier Universitaire, 86021 Poitiers, France; Equipe d'Accueil 3808, Université de Poitiers, 86034 Poitiers, France.

The collapsin response mediator protein (CRMP) family proteins are intracellular mediators of neurotrophic factors regulating neurite structure/spine formation and are essential for dendrite patterning and directional axonal pathfinding during brain developmental processes. Among this family, CRMP5/DPYSL5 plays a significant role in neuronal migration, axonal guidance, dendrite outgrowth, and synapse formation by interacting with microtubules. Here, we report the identification of missense mutations in DPYSL5 in nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intellectual disability. Read More

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Interhemispheric arachnoid cyst.

Surg Neurol Int 2021 30;12:125. Epub 2021 Mar 30.

Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Canada.

Background: Interhemispheric arachnoid cysts are uncommon and typically associated with other midline neurodevelopmental disorders, such as complete or partial agenesis of the corpus callosum.

Case Description: We report a case of a 27-year-old woman with worsening headache, memory deficit, and radiological progression of an interhemispheric arachnoid cyst. The treatment consisted of craniotomy for interhemispheric cyst fenestration into both the interhemispheric cistern and lateral ventricle. Read More

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Whole-Exome Sequencing for Identifying Genetic Causes of Intellectual Developmental Disorders.

Int J Gen Med 2021 13;14:1275-1282. Epub 2021 Apr 13.

The Second School of Clinical Medicine, Southern Medical University, Guangzhou, 510280, People's Republic of China.

Background: Intellectual developmental disorders (IDD) generally refers to the persistent impairment of cognitive activities and mental retardation caused by physical damage to the brain or incomplete brain development. We aimed to explore its genetic causes.

Methods: In this study, 21 IDD patients were recruited. Read More

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The Prenatal Morphomechanic Impact of Agenesis of the Corpus Callosum on Human Brain Structure and Asymmetry.

Cereb Cortex 2021 Apr 19. Epub 2021 Apr 19.

Department of Biomedical Imaging and Image-guided Therapy, Medical University of Vienna, 1090 Vienna, Austria.

Genetic, molecular, and physical forces together impact brain morphogenesis. The early impact of deficient midline crossing in agenesis of the Corpus Callosum (ACC) on prenatal human brain development and architecture is widely unknown. Here we analyze the changes of brain structure in 46 fetuses with ACC in vivo to identify their deviations from normal development. Read More

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DCC regulates astroglial development essential for telencephalic morphogenesis and corpus callosum formation.

Elife 2021 Apr 19;10. Epub 2021 Apr 19.

The University of Queensland, Queensland Brain Institute, Brisbane, Australia.

The forebrain hemispheres are predominantly separated during embryogenesis by the interhemispheric fissure (IHF). Radial astroglia remodel the IHF to form a continuous substrate between the hemispheres for midline crossing of the corpus callosum (CC) and hippocampal commissure (HC). Deleted in colorectal carcinoma (DCC) and netrin 1 (NTN1) are molecules that have an evolutionarily conserved function in commissural axon guidance. Read More

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Repair of Giant Anterior Skull Base Encephalocele Containing Intralesional Eloquent Brain: Technical Note.

Oper Neurosurg (Hagerstown) 2021 Apr 16. Epub 2021 Apr 16.

Department of Neurosurgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland.

Background: Encephaloceles are herniations of intracranial neural tissue and meninges through defects in the skull. Basal encephaloceles are rare anterior skull base defects incident in 1 in 35,000 live births. Sphenoethmoidal encephaloceles are even more uncommon, with an incidence of 1 in 700,000 live births. Read More

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Incidence and patterns of abnormal corpus callosum in fetuses with isolated spina bifida aperta.

Prenat Diagn 2021 Mar 30. Epub 2021 Mar 30.

Department of Development and Regeneration, Cluster Woman and Child, Biomedical Sciences, KU Leuven, Leuven, Belgium.

Objective: To determine the incidence and characterise corpus callosum (CC) abnormalities in fetuses with spina bifida aperta (SBA) between 18 and 26 weeks of gestation.

Methods: This was a retrospective study on fetuses with isolated SBA and who were assessed for fetal surgery. Digitally stored ultrasound images of the brain were reviewed for the presence/absence of the CC, and the length and diameter of its constituent parts (rostrum, genu, body and splenium). Read More

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Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.

Seizure 2021 May 30;88:60-72. Epub 2021 Mar 30.

Maternal and Pediatric Department, Fondazione IRCCS Casa Sollievo della Sofferenza, Poliambulatorio "Giovanni Paolo II", Viale Padre Pio, snc, San Giovanni Rotondo (FG) 71013, Italy.

Purpose: Epilepsy is a main manifestation in the autosomal dominant mental retardation syndrome caused by heterozygous variants in MEF2C. We aimed to delineate the electro-clinical features and refine the genotype-phenotype correlations in patients with MEF2C haploinsufficiency.

Methods: We thoroughly investigated 25 patients with genetically confirmed MEF2C-syndrome across 12 different European Genetics and Epilepsy Centers, focusing on the epileptic phenotype. Read More

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Case report of a novel phenotype in 18q deletion syndrome.

Rom J Morphol Embryol 2020 Jul-Sep;61(3):905-910

Department of Anatomy, Department of Pathology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania;

The latest decades are characterized by an enormous progression in the field of human genetics. In consequences, for various phenotypic manifestations, genetic testing could identify a specific underlying cause. An estimated incidence for all types of 18q deletions is one in 55 000 births predominant on females. Read More

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Surgical treatment and clinical outcome of large pediatric interhemispheric cysts with callosal agenesis: A systematic literature review with four additional patients.

Clin Neurol Neurosurg 2021 May 20;204:106600. Epub 2021 Mar 20.

Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Objective: Large interhemispheric cysts (IHC) with partial or complete agenesis of corpus callosum (ACC) constitute a heterogeneous group of rare disorders. Neurosurgical treatment, in the terms of if, when and how to operate, remains unclear METHODS: We performed a surgical literature review of series or reports of IHCs with callosal anomalies; we evaluated whether revision surgeries were necessary and considered the dimensional change in the cyst postoperatively and the developmental outcome. We also reported our experience with sfour patients treated by programmable cysto-peritoneal (CP) shunting. Read More

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