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Agenesis of the corpus callosum

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https://www.readbyqxmd.com/read/29907476/a-case-of-tubulinopathy-presenting-with-porencephaly-caused-by-a-novel-missense-mutation-in-the-tuba1a-gene
#1
Tatsuharu Sato, Mitsuhiro Kato, Kaoru Moriyama, Kohei Haraguchi, Hirotomo Saitsu, Naomichi Matsumoto, Hiroyuki Moriuchi
BACKGROUND: Tubulinopathies include a wide spectrum of disorders ranging from abnormal ocular movement to severe brain malformations, and typically present as diffuse agyria or perisylvian pachygyria with microcephaly, agenesis of the corpus callosum, and cerebellar hypoplasia. They are caused by the dysfunction of tubulins encoded by tubulin-related genes, and the TUBA1A gene encoding alpha-1A tubulin is most frequently responsible for this clinical entity. Porencephaly is relatively rare among patients with the TUBA1A mutations...
June 12, 2018: Brain & Development
https://www.readbyqxmd.com/read/29902589/prevalence-and-associated-factors-for-agenesis-of-corpus-callosum-in-emilia-romagna-1981-2015
#2
Elisa Ballardini, Pietro Marino, Elisa Maietti, Gianni Astolfi, Amanda J Neville
Agenesis and hypoplasia of the corpus callosum (ACC and HCC) are heterogeneous group with a large variation in published prevalence based on few population based studies. The aim of this work is to describe prevalence, associated factors and other malformations present in cases with either agenesis or hypoplasia of the corpus callosum, using a population-based database of all malformations diagnosed in Emilia-Romagna, Italy, (the Emilia-Romagna Registry on Congenital Malformations, IMER). This registry links and integrates hospital discharge records, birth certificates with cases reported by referral clinicians to identify all structural malformations diagnosed within one year of life regarding live birth, fetal death or termination of pregnancy due to fetal malformations (TOPFA)...
June 11, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29899770/cystic-cervical-dysraphism-experience-of-12-cases
#3
Suyash Singh, Anant Mehrotra, Satyadeo Pandey, Shruti Gupta, Kamlesh S Bhaisora, Sanjog Gajbhiye, Jayesh C Sardhara, Kuntal Kanti Das, Arun Kumar Srivastava, Awadhesh K Jaiswal, Sanjay Behari, Raj Kumar
Introduction: Cystic spinal dysraphism of the cervical region is a relatively rare entity, which is more frequently associated with congenital anomalies such as split cord malformation, Chiari malformation, and corpus callosum agenesis, when compared to their lumbosacral counterpart. In our study, we have highlighted the clinical spectrum, associated anomalies (both neural and extra-neural), and surgical nuances of these. Materials and Methods: This study is a retrospective analysis of 225 patients from June 2010 to April 2017...
January 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29879745/added-value-of-fetal-mri-in-the-evaluation-of-fetal-anomalies-of-the-corpus-callosum-a-retrospective-analysis-of-78-cases
#4
Mirra Manevich-Mazor, Alina Weissmann-Brenner, Omer Bar Yosef, Chen Hoffmann, Roei David Mazor, Mariela Mosheva, Reuven Ryszard Achiron, Eldad Katorza
OBJECTIVE:  To evaluate the added value of fetal MRI to ultrasound in detecting and specifying callosal anomalies, and its impact on clinical decision making. METHODS:  Fetuses with a sonographic diagnosis of an anomalous corpus callosum (CC) who underwent a subsequent fetal brain MRI between 2010 and 2015 were retrospectively evaluated and classified according to the severity of the findings. The findings detected on ultrasound were compared to those detected on MRI...
June 7, 2018: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/29858521/the-3-rd-ventricle-of-the-human-fetal-brain-normative-data-and-pathologic-correlation-a-3d-transvaginal-neurosonography-study
#5
Roee Birnbaum, Stefano Parodi, Gloria Donarini, Gabriella Meccariello, Ezio Fulcheri, Dario Paladini
OBJECTIVE: To describe A) the technical aspects; B) the anatomical boundaries of the fetal 3rd ventricle (3V) on the midsagittal sonographic view; to assess: C) different biometric parameters in normal and abnormal fetuses; D) and their reproducibility. METHODS: This study included 67 normal and 50 CNS anomalies fetuses which include: 1) obstructive severe ventriculomegaly (SVM; atrial width ≥ 15 mm); 2) moderate ventriculomegaly (10-14.9 mm); 3) corpus callosum agenesis (ACC)...
June 1, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29843537/antenatal-diagnosis-of-fetal-retinoid-syndrome-at-20-weeks-of-gestation-a-case-report
#6
Hakan Erenel, Aysegul Ozel, Funda Oztunc, Osman Kizilkilic, Nil Comunoglu, Seyfettin Uludag, Riza Madazli
INTRODUCTION: Isotretinoin, a synthetic derivative of vitamin A, is one of the most potent human teratogens, and is mainly utilized for the treatment of severe recalcitrant nodular acne. Retinoic acid embryopathy is well defined in the literature. CASE REPORT: The mother was referred for a fetal posterior fossa abnormality, first detected at 20 weeks of gestation. The mother used isotretinoin until 18 weeks gestation. Ultrasound examination revealed hypertelorism, cerebellar hypoplasia, vermian agenesis, truncus arteriosus, anotia, thymic aplasia, corpus callosum hypoplasia...
May 29, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29808240/-fetal-magnetic-resonance-imaging
#7
REVIEW
W Reith, A Haussmann, U Yilmaz
CLINICAL ISSUE: The most important prenatal screening method for the detailed assessment of the fetus is ultrasound, which is often combined with colour-coded Doppler sonography. In case of sonographically diagnosed fetal pathologies or technical limitations of the ultrasound, supplementary diagnostics may be necessary. STANDARD RADIOLOGICAL METHODS: With fast MRI sequences, fetal MRI screening provides important additional information especially with regard to the most common congenital pathologies-central nervous system (CNS) pathologies (agenesis of the corpus callosum, ventriculomegaly, arachnoid cyst, pathologies of the posterior cranial fossa, dysfunction of the gyrification)...
May 28, 2018: Der Radiologe
https://www.readbyqxmd.com/read/29801921/neurodevelopmental-outcomes-in-children-with-prenatally-diagnosed-corpus-callosal-abnormalities
#8
Hye-Ryun Yeh, Hyo-Kyoung Park, Hyun-Jin Kim, Tae-Sung Ko, Hye-Sung Won, Mi-Young Lee, Jae-Yoon Shim, Mi-Sun Yum
OBJECTIVE: Although corpus callosal abnormalities are among the most common brain malformations detected prenatally, few previous studies have described the neurodevelopmental outcomes of children with this condition. The aim of our study was to evaluate the neurodevelopmental outcomes and associated clinical features of children with corpus callosal abnormalities diagnosed by prenatal ultrasonography. METHODS: Between July 2011 and July 2016, forty-nine children with corpus callosal abnormalities were born in Asan Medical Center Children's Hospital...
May 22, 2018: Brain & Development
https://www.readbyqxmd.com/read/29797040/-dandy-walker-malformation
#9
REVIEW
W Reith, A Haussmann
The Dandy-Walker malformation is the most frequent cerebral malformation. It is defined by hypoplasia and upward rotation of the vermis cerebelli, a cystic enlargement of the fourth ventricle and in total an enlarged posterior fossa with cranially shifted position of the lateral sinus, tentorium and torcula herophili. This malformation was first described by Dandy and Blackfan in 1914 then supplemented again by Taggart and Walker in 1942. The current description as Dandy-Walker malformation was introduced in 1954 by Bender...
May 24, 2018: Der Radiologe
https://www.readbyqxmd.com/read/29789951/sleep-in-children-with-congenital-malformations-of-the-central-nervous-system
#10
REVIEW
Jacqueline F Yates, Matthew M Troester, David G Ingram
PURPOSE OF REVIEW: Congenital malformations of the central nervous system may be seen in isolation or in association with syndromes that have multiorgan involvement. Among the potential health challenges these children may face, sleep concerns are frequent and may include chronic insomnia, sleep-related breathing disorders, and circadian rhythm disorders. RECENT FINDINGS: In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome...
May 23, 2018: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/29774379/-agenesis-of-the-corpus-callosum
#11
REVIEW
J M Lieb, F J Ahlhelm
CLINICAL ISSUE: Agenesis of the corpus callosum is reported to have an incidence of about 1:4000 live births. In 30-45% of cases, genetic etiologies can be identified, e. g., 10% chromosomal anomalies and 20-35% genetic syndromes. Environmental factors like fetal alcohol syndrome are also known to be prone to callosal agenesis. Callosal agenesis can be complete or partial and can be isolated or associated with other central nervous system (CNS) anomalies (e. g., cortical developmental disorders, callosal lipoma, intracranial cysts) or extra-CNS anomalies (e...
May 17, 2018: Der Radiologe
https://www.readbyqxmd.com/read/29726726/diagnostic-value-of-omniview-technique-on-the-agenesis-of-corpus-callosum
#12
Yin Hong, L I Yang
OBJECTIVE: This study aimed to discuss the diagnostic value of Omniview technique on the agenesis of corpus callosum. METHODS: A total of 43 pregnant women with no obvious structural abnormality and eight pregnant women who diagnosed with agenesis of corpus callosum (ACC) were included in this study. The 2D ultrasonography and 3D ultrasonography Omniview technique were used to carry out ultrasonic examination on 43 normal fetuses and eight fetuses with agenesis of corpus callosum (as verified through magnetic resonance) respectively...
May 4, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29687282/early-asymmetric-inter-hemispheric-transfer-in-the-auditory-network-insights-from-infants-with-corpus-callosum-agenesis
#13
Parvaneh Adibpour, Jessica Dubois, Marie-Laure Moutard, Ghislaine Dehaene-Lambertz
The left hemisphere specialization for language is a well-established asymmetry in the human brain. Structural and functional asymmetries are observed as early as the prenatal period suggesting genetically determined differences between both hemispheres. The corpus callosum is a large tract connecting mostly homologous areas; some have proposed that it might participate in an enhancement of the left-hemispheric advantage to process speech. To investigate its role in early development, we compared 13 3-4-month-old infants with an agenesis of the corpus callosum ("AgCC") with 18 typical infants using high-density electroencephalography in an auditory task...
July 2018: Brain Structure & Function
https://www.readbyqxmd.com/read/29681093/low-level-expression-of-epg5-leads-to-an-attenuated-vici-syndrome-phenotype
#14
Megan A Waldrop, Felecia Gumienny, Daniel Boue, Emily de Los Reyes, Richard Shell, Robert B Weiss, Kevin M Flanigan
Vici syndrome is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous hypopigmentation, cataracts, cardiomyopathy, combined immunodeficiency, failure to thrive, profound developmental delay, and acquired microcephaly. Most individuals are severely affected and have a markedly reduced life span. Here we describe an 8-year-old boy with a history of developmental delay, agenesis of the corpus callosum, failure to thrive, myopathy, and well-controlled epilepsy. He was initially diagnosed with a mitochondrial disorder, based in part upon nonspecific muscle biopsy findings, but mitochondrial DNA mutation analysis revealed no mutations...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29676349/partial-corpus-callosal-agenesis-with-ventriculomegaly-and-sulcal-anomaly-in-a-10-year-old-child
#15
Austine Abebe Osawe, Saleh M Kabir, Anas Ismail
Agenesis of the corpus callosum is a heterogeneous, congenital neurodevelopmental condition that can be observed either in isolation or in combination with other brain abnormalities. Patients often present early with characteristic neurologic and physical manifestations. This case discusses a 10-year-old boy who presented to a tertiary health facility in Northern Nigeria with 6-month history of seizure disorder, cognitive impairment and urinary incontinence and had classical magnetic resonance imaging (MRI) findings consistent with partial corpus callosum agenesis in combination with other brain abnormalities...
January 2018: Nigerian Postgraduate Medical Journal
https://www.readbyqxmd.com/read/29648665/homozygous-taf8-mutation-in-a-patient-with-intellectual-disability-results-in-undetectable-taf8-protein-but-preserved-rna-polymerase-ii-transcription
#16
Farrah El-Saafin, Cynthia Curry, Tao Ye, Jean-Marie Garnier, Isabelle Kolb-Cheynel, Matthieu Stierle, Natalie L Downer, Mathew P Dixon, Luc Negroni, Imre Berger, Tim Thomas, Anne K Voss, William Dobyns, Didier Devys, Laszlo Tora
The human general transcription factor TFIID is composed of the TATA-binding protein (TBP) and 13 TBP-associated factors (TAFs). In eukaryotic cells, TFIID is thought to nucleate RNA polymerase II (Pol II) preinitiation complex formation on all protein coding gene promoters and thus, be crucial for Pol II transcription. In a child with intellectual disability, mild microcephaly, corpus callosum agenesis and poor growth, we identified a homozygous splice-site mutation in TAF8 (NM_138572.2: c.781-1G > A)...
June 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29601953/sulcal-pits-and-patterns-in-developing-human-brains
#17
REVIEW
Kiho Im, P Ellen Grant
Spatial distribution and specific geometric and topological patterning of early sulcal folds have been hypothesized to be under stronger genetic control and are more associated with optimal organization of cortical functional areas and their white matter connections, compared to later developing sulci. Several previous studies of sulcal pit (putative first sulcal fold) distribution and sulcal pattern analyses using graph structures have provided evidence of the importance of sulcal pits and patterns as remarkable anatomical features closely related to human brain function, suggesting additional insights concerning the anatomical and functional development of the human brain...
March 27, 2018: NeuroImage
https://www.readbyqxmd.com/read/29510770/a-neuropsychological-profile-for-agenesis-of-the-corpus-callosum-cognitive-academic-executive-social-and-behavioral-functioning-in-school-age-children
#18
Vanessa Siffredi, Vicki Anderson, Alissandra McIlroy, Amanda G Wood, Richard J Leventer, Megan M Spencer-Smith
OBJECTIVES: Agenesis of the corpus callosum (AgCC), characterized by developmental absence of the corpus callosum, is one of the most common congenital brain malformations. To date, there are limited data on the neuropsychological consequences of AgCC and factors that modulate different outcomes, especially in children. This study aimed to describe general intellectual, academic, executive, social and behavioral functioning in a cohort of school-aged children presenting for clinical services to a hospital and diagnosed with AgCC...
May 2018: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/29483251/grip-and-slip-of-l1-cam-on-adhesive-substrates-direct-growth-cone-haptotaxis
#19
Kouki Abe, Hiroko Katsuno, Michinori Toriyama, Kentarou Baba, Tomoyuki Mori, Toshio Hakoshima, Yonehiro Kanemura, Rikiya Watanabe, Naoyuki Inagaki
Chemical cues presented on the adhesive substrate direct cell migration, a process termed haptotaxis. To migrate, cells must generate traction forces upon the substrate. However, how cells probe substrate-bound cues and generate directional forces for migration remains unclear. Here, we show that the cell adhesion molecule (CAM) L1-CAM is involved in laminin-induced haptotaxis of axonal growth cones. L1-CAM underwent grip and slip on the substrate. The ratio of the grip state was higher on laminin than on the control substrate polylysine; this was accompanied by an increase in the traction force upon laminin...
March 13, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29463858/clinical-and-genetic-spectrum-of-ampd2-related-pontocerebellar-hypoplasia-type-9
#20
Fanny Kortüm, Rami Abou Jamra, Malik Alawi, Susan A Berry, Guntram Borck, Katherine L Helbig, Sha Tang, Dagmar Huhle, Georg Christoph Korenke, Malavika Hebbar, Anju Shukla, Katta M Girisha, Maja Steinlin, Sandra Waldmeier-Wilhelm, Martino Montomoli, Renzo Guerrini, Johannes R Lemke, Kerstin Kutsche
Pontocerebellar hypoplasia (PCH) represents a group of autosomal-recessive progressive neurodegenerative disorders of prenatal onset. Eleven PCH subtypes are classified according to clinical, neuroimaging and genetic findings. Individuals with PCH type 9 (PCH9) have a unique combination of postnatal microcephaly, hypoplastic cerebellum and pons, and hypoplastic or absent corpus callosum. PCH9 is caused by biallelic variants in AMPD2 encoding adenosine monophosphate deaminase 2; however, a homozygous AMPD2 frameshift variant has recently been reported in two family members with spastic paraplegia type 63 (SPG63)...
February 20, 2018: European Journal of Human Genetics: EJHG
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