5,081 results match your criteria Corpus Callosum Agenesis

The Role of Neuroplasticity in Improving the Decision-Making Quality of Individuals With Agenesis of the Corpus Callosum: A Systematic Review.

Cureus 2022 Jun 19;14(6):e26082. Epub 2022 Jun 19.

Department of Morphology, Federal University of Minas Gerais, Belo Horizonte, BRA.

Although individuals with agenesis of corpus callosum (ACC) possess intelligence coefficients within regular parameters, current studies have demonstrated decision-making compromise and potential negative social consequences. Furthermore, alternative pathways regarding brain connectivity in acallosal patients combined with cognitive therapy that would potentially mitigate such difficulties. Therefore, this study aimed to examine the current state of the art regarding brain foundations in the role of neuroplasticity by improving the decision-making quality in ACC. Read More

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Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.

Ann Clin Transl Neurol 2022 Jun 22. Epub 2022 Jun 22.

Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.

Background: Recessive mutations in SLC12A6 have been linked to hereditary motor sensory neuropathy with agenesis of the corpus callosum. Patients with early-onset peripheral neuropathy associated with SLC12A6 heterozygous variants were reported in 2016. Only five families and three variants have been reported to date, and the spectrum is unclear. Read More

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Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature.

Orphanet J Rare Dis 2022 06 21;17(1):243. Epub 2022 Jun 21.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, UAM-CSIC, CIBERER, IdiPAZ, C/Francisco Tomás y Valiente, 7, 28049, Madrid, Spain.

Background: Monocarboxylate transporter 1 (MCT1) deficiency has recently been described as a rare cause of recurrent ketosis, the result of impaired ketone utilization in extrahepatic tissues. To date, only six patients with this condition have been identified, and clinical and biochemical details remain incomplete.

Results: The present work reports a patient suffering from severe, recurrent episodes of metabolic acidosis and psychomotor delay, showing a pathogenic loss-of-function variation c. Read More

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A Novel nonsense variant in the CDH2 gene associated with ACOGS: A case report.

Am J Med Genet A 2022 Jun 16. Epub 2022 Jun 16.

Department of Radiology, Erzurum City Hospital, Erzurum, Turkey.

Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome (ACOGS; OMIM #618929) is a rare genetic disorder characterized by global developmental delay, agenesis or hypoplasia of corpus callosum, craniofacial dysmorphism, ocular, cardiac, and genital anomalies. ACOGS is caused by variations in the CDH2 gene. Our patient had a novel finding besides the classical findings of ACOGS. Read More

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Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cysts.

Neuroradiology 2022 Jun 7. Epub 2022 Jun 7.

Neuroradiology Unit, Great Ormond Street Institute of Child Health, London, UK.

Purpose: To explore the relationships between clinical-radiological features and surgical outcomes in subjects with interhemispheric cysts (IHC) and corpus callosum anomalies.

Methods: We reviewed the clinico-radiological and neurosurgical data of 38 patients surgically treated with endoscopic fenestration, shunting, or combined approaches from 2000 to 2018 (24 males, median age 9 years). Pre- and postoperative changes in IHC volume were calculated. Read More

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Clinical variety and prognosis of intracranial arachnoid cysts in children.

Neurosurg Rev 2022 Jun 3. Epub 2022 Jun 3.

Department for Pediatric Neurosurgery, Asklepios Children´S Hospital, Sankt Augustin, Germany.

Arachnoid cysts (AC) occur in different intracranial locations. Management and prognosis depend on the clinical presentation and treatment guidelines do not exist. With this study, we want to demonstrate the clinical variety of arachnoid cysts in children and place a focus on outcome factors in operated cases. Read More

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Generation of FLAG-tagged Arx knock-in mouse model.

Genesis 2022 Jun 3:e23479. Epub 2022 Jun 3.

Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

The Aristaless-related homeobox (ARX) is a paired-like homeodomain transcription factor playing important roles in brain development. Patients with mutations in ARX have a spectrum of neurodevelopmental disorders such as epilepsy, intellectual disability, and autism spectrum disorder, with or without structural abnormalities of the brain such as lissencephaly (smooth brain), microcephaly (small brain), and/or agenesis of the corpus callosum. Mouse models have provided important clues on the pathophysiologic roles of ARX in these disorders. Read More

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Early and Innovative Rehabilitation in Warkany Syndrome 2 Associated with Agenesis of the Corpus Callosum: A Case Report.

Children (Basel) 2022 May 14;9(5). Epub 2022 May 14.

IRCCS Centro Neurolesi Bonino Pulejo, 98124 Messina, Italy.

Trisomy 8 mosaicism syndrome (T8MS) or "Warkany's syndrome 2" is a rare chromosomal disorder characterized by three copies of chromosome 8 in some cells of the body. T8MS incidence in the world population is about 1/25,000-50,000 live births with a 5:1 ratio between males and females. Since chromosomal mosaicism is often present in this syndrome, affected subjects present a phenotype varying from mild dysmorphism to severe structural anomalies. Read More

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Child Neurology: Functional Reorganization Mediating Supplementary Motor Area Syndrome Recovery in Agenesis of the Corpus Callosum.

Neurology 2022 May 26. Epub 2022 May 26.

Department of Neurosurgery, Yale School of Medicine, New Haven, CT;

Supplementary motor area (SMA) syndrome is a typically transient condition resulting from damage to the medial premotor cortex. The exact mechanism of recovery remains unknown but is traditionally described as a process involving functional compensation by the contralateral SMA through corpus callosal fibers. The purpose of this case study is to highlight a distinct extra-callosal mechanism of functional recovery from SMA syndrome in a patient with agenesis of the corpus callosum (ACC). Read More

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[De novo variant of CSNK2B causes Poirier-Bienvenu neurodevelopmental syndrome: two case report].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2022 May;39(5):484-487

Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China.

Objective: To analyze the clinical characteristics and CSNK2B gene variant of 2 children with Poirier-Bienvenu neurodevelopmental syndrome, and to identify the possible pathogenic causes and provide evidence for clinical diagnosis.

Methods: Two children with Poirier-Bienvenu neurodevelopmental syndrome were selected from West China Second University Hospital, Sichuan University. The clinical manifestations, laboratory examination and CSNK2B gene variant were analyzed. Read More

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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

Genet Med 2022 May 17. Epub 2022 May 17.

Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Pediatrics and Adolescent Medicine, Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.

Purpose: Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally identified variants can be challenging and is hampered by our often limited knowledge of prenatal phenotypes. To better delineate the prenatal phenotype of Coffin-Siris syndrome (CSS), we collected clinical data from patients with a prenatal phenotype and a pathogenic variant in one of the CSS-associated genes. Read More

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Cochlear implantation in a 16-month-old with Chudley-McCullough Syndrome.

Am J Otolaryngol 2022 Jul-Aug;43(4):103487. Epub 2022 May 6.

The University of Mississippi Medical Center, Department of Otolaryngology, Head and Neck Surgery, 2500 North State St., Jackson, MS 39216, United States of America. Electronic address:

Objective: The purpose of this report is to describe a case of bilateral cochlear implantation (CI) in a pediatric patient with Chudley-McCullough Syndrome (CMS). By reviewing the literature, we hope to describe common clinical presentations to aid in early diagnosis and management of pediatric patients with CMS.

Methods: Case report with literature review. Read More

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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.

Neurocase 2022 Apr 9;28(2):218-225. Epub 2022 May 9.

Faculty of Psychology and Social Sciences, Roudehen Branch, Islamic Azad University, Tehran, Iran.

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). The treatment protocol included anodal tDCS with simultaneous speech therapy in one of the participants (T.D. Read More

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COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.

Am J Med Genet A 2022 May 2. Epub 2022 May 2.

Institute of Medical Genetics and Genomics, Sir Gangaram Hospital, New Delhi, India.

Pontocerebellar hypoplasia (PCH) type 12 is a rare, perinatal lethal neurodegenerative genetic disorder caused by biallelic mutations in the COASY gene. Herein, we describe the clinical and neuroradiological profile of nine affected fetuses/neonates from five families identified with a common COASY: c.1486-3C>G biallelic variant. Read More

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Magnetic resonance imaging findings in children with intractable epilepsy compared to children with medical responsive epilepsy.

Iran J Child Neurol 2022 14;16(2):53-61. Epub 2022 Mar 14.

Objective: Epilepsy is a common brain disorder characterized by a persistent tendency to develop seizures in neurological, cognitive, and psychological contents. Magnetic Resonance Imaging (MRI ) is a neuroimaging test facilitating the detection of structural epileptogenic lesions. This study aimed to compare the MRI findings between patients with intractable and drug-responsive epilepsy. Read More

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Fetal corpus callosum abnormalities: Ultrasound and magnetic resonance imaging role.

J Clin Ultrasound 2022 Apr 30. Epub 2022 Apr 30.

Advanced Diagnostic and Interventional Radiology Research Center (ADIR), Tehran University of Medical Sciences, Tehran, Iran.

The corpus callosum (CC) is the major interhemispheric commissure and its abnormalities include agenesis, hypoplasia, and hyperplasia. The CC anomalies are typically related to other central nervous system (CNS) or extra-CNS malformations. The antenatal diagnosis of complete CC agenesis is easy after mid-trimester by ultrasound (US) even in the axial plane. Read More

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Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

Am J Med Genet A 2022 Jul 21;188(7):2036-2047. Epub 2022 Apr 21.

Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.

Unique or multiple congenital facial skin polyps are features of several rare syndromes, from the most well-known Pai syndrome (PS), to the less recognized oculoauriculofrontonasal syndrome (OAFNS), encephalocraniocutaneous lipomatosis (ECCL), or Sakoda complex (SC). We set up a research project aiming to identify the molecular bases of PS. We reviewed 27 individuals presenting with a syndromic frontonasal polyp and initially referred for PS. Read More

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De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities.

Pediatr Neurol 2022 Jun 31;131:1-3. Epub 2022 Mar 31.

Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada; Division of Child Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada; Department of Neurology & Neurosurgery, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada. Electronic address:

Background: GLI3 encodes a zinc finger transcription factor that plays a role in the sonic hedgehog pathway. Germline pathogenic GLI3 variants are associated with Greig cephalopolysyndactyly and Pallister-Hall syndromes, two syndromes involving brain malformation and polydactyly.

Methods: We identified patients with pathogenic GLI3 variants and brain malformations in the absence of polydactyly or other skeletal malformation. Read More

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Bi-allelic Variants in LSS Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2.

J Invest Dermatol 2022 Apr 9. Epub 2022 Apr 9.

Department of Dermatology, Peking University First Hospital; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses; National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China; Department of Dermatology, Xiamen Chang Gung Hospital, Xiamen 361026, China; Dermatology Hospital, Southern Medical University, Guangzhou 510091, China. Electronic address:

Palmoplantar keratoderma-congenital alopecia syndrome type 2 (PPKCA2) is an autosomal recessive disorder with unknown genetic basis. Herein, we identified biallelic variants in the LSS gene in two unrelated PPKCA2 cases (c.3G>A, p. Read More

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Neuropsychological functions in a pediatric case of partial agenesis of the corpus callosum: Clinical implications.

Appl Neuropsychol Child 2022 Apr 12:1-12. Epub 2022 Apr 12.

Cognitive and Behavioural Neuroscience Laboratory, Department of Humanities and Social Sciences, Indian Institute of Technology Bombay, Mumbai, India.

The corpus callosum (CC) is involved in several cognitive processes and the interhemispheric transfer of information. The current case study investigated neurocognitive and emotional processes in a 7-year-old female with partial agenesis of the corpus callosum, with an absent splenium and posterior body, with comorbid autism and ADHD. We measured cognitive functions, such as response inhibition, error monitoring, attentional disengagement, and attention capture by irrelevant emotional stimuli. Read More

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Fetal central nervous system anomalies: When should we offer exome sequencing?

Prenat Diagn 2022 05 20;42(6):736-743. Epub 2022 Apr 20.

Genetics and Genomic Medicine, UCL GOS Institute of Child Health, UCL, London, England, UK.

Objective: To investigate the detection of pathogenic variants using exome sequencing in an international cohort of fetuses with central nervous system (CNS) anomalies.

Methods: We reviewed trio exome sequencing (ES) results for two previously reported unselected cohorts (Prenatal Assessment of Genomes and Exomes (PAGE) and CUIMC) to identify fetuses with CNS anomalies with unremarkable karyotypes and chromosomal microarrays. Variants were classified according to ACMG guidelines and association of pathogenic variants with specific types of CNS anomalies explored. Read More

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Mosaicism in Hartsfield syndrome.

Eur J Med Genet 2022 May 23;65(5):104491. Epub 2022 Mar 23.

Northern Genetics Service, Institute of Genetic Medicine, International Centre for Life, Newcastle Upon Tyne, NE1 3BZ, UK.

Hartsfield syndrome is a rare condition characterised by the co-occurrence of ectrodactyly and holoprosencephaly spectrum disorders; cleft lip and palate is a common associated feature. This is due to either monoallelic, or less commonly, biallelic variants in FGFR1 with a loss of function or dominant negative effect. To date 37 individuals have been reported, including two instances of germline mosaicism. Read More

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Clinical Manifestations of Various Molecular Cytogenetic Variants of Eight Cases of "8p Inverted Duplication/Deletion Syndrome".

Biomedicines 2022 Feb 28;10(3). Epub 2022 Feb 28.

Research Centre for Medical Genetics, 115522 Moscow, Russia.

Inverted duplication syndrome with an adjacent terminal deletion of the short arm of chromosome 8-inv dup del(8p)-is a rare complex structural chromosomal rearrangement with a wide range of clinical manifestations. Molecular cytogenetic variants of chromosomal imbalance depend on the mechanism of rearrangement formation. We analyzed the clinical-genetic and molecular cytogenetic characteristics of the 8p inverted duplication/deletion syndrome, as well as the genotype-phenotype correlation in eight unrelated cases with the rearrangement of inv dup del(8p). Read More

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February 2022

Novel finding of lissencephaly and severe osteopenia in a Chinese patient with SATB2-associated syndrome and a brief review of literature.

Am J Med Genet A 2022 Jul 22;188(7):2168-2172. Epub 2022 Mar 22.

Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Pok Fu Lam, Hong Kong.

SATB2-associated syndrome (SAS) is a rare disorder characterized by developmental delay, behavioral problems, and craniofacial anomalies in particular dental and palatal abnormalities. We describe the clinical course, genetic and autopsy findings in a Chinese boy with global developmental delay, hypotonia, epilepsy, recurrent fractures and osteopenia. Brain magnetic resonance imaging showed pachygyria, white matter hypoplasia and hypogenesis of the corpus callosum. Read More

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Assessment of pericallosal artery at 11-14 weeks of gestation: Cohort study and meta-analysis.

J Clin Ultrasound 2022 Mar 22. Epub 2022 Mar 22.

Centre for High-Risk Pregnancy and Fetal Care, Department of Obstetrics and Gynaecology, University of Chieti, Chieti, Italy.

Objectives: To report the rate of visualization of the pericallosal artery (PCA) in the first trimester of pregnancy (11-14 weeks).

Methods: Prospective observational study of consecutive fetuses undergoing first trimester risk assessment for chromosomal anomalies. The presence of PCA was assessed in a midsagittal view of fetal brain using high-definition power Color Doppler. Read More

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Blood brain barrier as an interface for alcohol induced neurotoxicity during development.

Neurotoxicology 2022 May 17;90:145-157. Epub 2022 Mar 17.

Universidade Federal do Rio de Janeiro, Instituto de Ciências Biomédicas, Brazil.

Ethanol consumption during pregnancy or lactation permanently impairs the development of the central nervous system (CNS), resulting in the spectrum of fetal alcohol disorders (FASD). FASD is a general term that covers a set of deficits in the embryo caused by gestational alcohol exposure, with fetal alcohol syndrome (FAS) considered the most serious. The clinical features of FAS include facial abnormalities, short stature, low body weight, and evidence of structural and/or functional damage to the central nervous system (CNS). Read More

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A very rare case of a newborn with tetrasomy 9p and literature review.

Turk J Pediatr 2022 ;64(1):171-178

Departments of Neonatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Background: Tetrasomy 9p is a rare genetic condition which usually results from a supernumerary isochromosome derived from the short arm of chromosome 9. Phenotypic findings include multiple congenital anomalies, facial dysmorphism, growth and developmental delays, and also vary according to the presence and degree of mosaicism.

Case: We report on a newborn with tetrasomy 9p who deceased in the newborn period. Read More

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Long-term outcome of a consecutive case series of congenital isolated agenesis of corpus callosum.

Ultrasound Obstet Gynecol 2022 Mar 11. Epub 2022 Mar 11.

Department of Women, Mother and Neonate, Children's Hospital V Buzzi, University of Milan. Milan, Italy.

Objectives: The aim of our single-centre case series was to describe the long-term outcomes of children with prenatally diagnosed isolated complete corpus callosum agenesis (cACC).

Methods: We reviewed the charts of the foetuses who were referred to our Fetal Therapy Unit from January 2004 to July 2020 for a suspected anomaly of the corpus callosum (CC) to identify cases with cACC. Foetal karyotype and comparative genomic hybridisation microarray on amniotic fluid and foetal magnetic resonance imaging (MRI) were offered to all pregnant women. Read More

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