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Agenesis of the corpus callosum

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https://www.readbyqxmd.com/read/28641168/aicardi-syndrome-and-cognitive-abilities-a-report-of-five-cases
#1
Mia Tuft, Ylva Østby, Karl O Nakken, Caroline Lund
Aicardi syndrome is a rare neurodevelopmental disorder with agenesis of corpus callosum, chorioretinal lacunae, and infantile spasms as the main features. The outcome is in general severe, with poor cognitive development and difficult-to-treat epilepsy. In this study, we assessed the level of cognitive function of five girls with Aicardi syndrome, using normed population based tests and questionnaires. Their cognitive abilities varied from mild to profound intellectual disabilities. The more severe the epilepsy, the poorer were the cognitive skills...
June 19, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28640803/brain-network-eigenmodes-provide-a-robust-and-compact-representation-of-the-structural-connectome-in-health-and-disease
#2
Maxwell B Wang, Julia P Owen, Pratik Mukherjee, Ashish Raj
Recent research has demonstrated the use of the structural connectome as a powerful tool to characterize the network architecture of the brain and potentially generate biomarkers for neurologic and psychiatric disorders. In particular, the anatomic embedding of the edges of the cerebral graph have been postulated to elucidate the relative importance of white matter tracts to the overall network connectivity, explaining the varying effects of localized white matter pathology on cognition and behavior. Here, we demonstrate the use of a linear diffusion model to quantify the impact of these perturbations on brain connectivity...
June 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28634705/how-does-pregnancy-affect-the-patients-with-pituitary-adenomas-a-study-on-113-pregnancies-from-turkey
#3
Z Karaca, S Yarman, I Ozbas, P Kadioglu, M Akturk, F Kilicli, H S Dokmetas, R Colak, H Atmaca, Z Canturk, Y Altuntas, N Ozbey, N Hatipoglu, F Tanriverdi, K Unluhizarci, F Kelestimur
OBJECTIVE: Data regarding pregnancies in relation to pituitary tumors are limited. The effects of pregnancy on pituitary adenomas and the effects of adenoma itself (hormonal activity, mass effects and pituitary insufficiency) and/or treatment on the ongoing gestation and developing fetus were evaluated. METHODS: The study was a retrospective study. A questionnaire involving questions regarding medical history before index gestation, history of related pregnancy, result of index gestation and postpartum follow-up of the patients was filled by the investigator in one of the eight Referral Endocrinology Centers from Turkey...
June 20, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28624465/muscle-pathology-in-vici-syndrome-a-case-study-with-a-novel-mutation-in-epg5-and-a-summary-of-the-literature
#4
Carola Hedberg-Oldfors, Niklas Darin, Anders Oldfors
Vici syndrome is a disorder characterized by myopathy, cardiomyopathy, agenesis of the corpus callosum, immunodeficiency, cataracts, hypopigmentation, microcephaly, gross developmental delay and failure to thrive. It is caused by mutations in EPG5, which encodes a protein involved in the autophagy pathway. Although myopathy is part of the syndrome, few publications have described the muscle pathology. We present a detailed morphological analysis in a boy with Vici syndrome due to a novel homozygous one-base deletion in EPG5 (c...
May 8, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28622125/early-onset-shapiro-syndrome-variant-treated-with-pizotifen-a-case-report
#5
Laura Denegri, Giulia Prato, Maria Margherita Mancardi, Cristina Schiaffino, Pasquale Striano, Maria Giuseppina Baglietto
Shapiro Syndrome is a rare entity defined by the triad of recurrent spontaneous hypothermia, hyperhidrosis, and agenesis of the corpus callosum. Fewer than 100 cases have been reported so far and there are only few cases without a complete agenesis of corpus callosum ("Shapiro Syndrome Variant"). In this article, we report the clinical, electroencephalographic, and neuroimaging data of a patient with early-onset Shapiro Syndrome Variant. The case study describes a 4-year-old patient with episodes characterized by generalized hyperhidrosis, hypotonia, impaired consciousness, and hypothermia with onset before the first year of age...
2017: Neurodiagnostic Journal
https://www.readbyqxmd.com/read/28615637/defects-in-autophagosome-lysosome-fusion-underlie-vici-syndrome-a-neurodevelopmental-disorder-with-multisystem-involvement
#6
Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Hideaki Shiraishi, Yutaka Nonoda, Shinichi Magara, Jun Tohyama, Nobuhiko Okamoto, Takeshi Kumagai, Konomi Shimoda, Yoshiya Yukitake, Daigo Kajikawa, Tomohiro Morio, Ayako Hattori, Motoo Nakagawa, Naoki Ando, Ichizo Nishino, Mitsuhiro Kato, Tatsuhiko Tsunoda, Hirotomo Saitsu, Yonehiro Kanemura, Mami Yamasaki, Kenjiro Kosaki, Naomichi Matsumoto, Tamotsu Yoshimori, Shinji Saitoh
Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, developmental delay, and hypopigmentation. Mutations in EPG5, a gene that encodes a key autophagy regulator, have been shown to cause VICIS, however, the precise pathomechanism underlying VICIS is yet to be clarified. Here, we describe detailed clinical (including brain MRI and muscle biopsy) and genetic features of nine Japanese patients with VICIS...
June 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28562508/biallelic-pms2-mutation-and-heterozygous-dicer1-mutation-presenting-as-constitutional-mismatch-repair-deficiency-with-corpus-callosum-agenesis-case-report-and-review-of-literature
#7
Cletus Cheyuo, Walid Radwan, Janice Ahn, Kymberly Gyure, Rabia Qaiser, Patrick Tomboc
Constitutional mismatch repair deficiency syndrome is a cancer predisposition syndrome caused by autosomal recessive biallelic (homozygous) germline mutations in the mismatch repair genes (MLH1, MSH2, MSH6, and PMS2). The clinical spectrum includes neoplastic and non-neoplastic manifestations. We present the case of a 7-year-old boy who presented with T-lymphoblastic lymphoma and glioblastoma, together with non-neoplastic manifestations including corpus callosum agenesis, arachnoid cyst, developmental venous anomaly, and hydrocephalus...
May 29, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28553390/a-neonate-with-x-linked-lissencephaly-with-ambiguous-genitalia
#8
Priyanka Minocha, Anita Choudhary, Shambhavi, Sadasivan Sitaraman
X-linked lissencephaly with ambiguous genitalia is a rare and recently described syndrome. We report a neonate presenting with the classical features of the syndrome which includes lissencephaly, agenesis of the corpus callosum, intractable epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. The baby was managed aggressively with antiepileptics. Early clinical suspicion of the syndrome can prevent future such occurrences in the family through genetic counseling.
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28509324/three-dimensional-neurosonography-a-novel-field-in-fetal-medicine
#9
Michał Lipa, Ritsuko Kimata Pooh, Mirosław Wielgoś
Neurosonography is a promising technique for prenatal diagnosis, combining features of ultrasound imaging with fetal neurology. The brain is a three-dimensional structure, therefore observing brain structure in the three basic planes (sagittal, coronal and axial) is mandatory. The anterior fontanelle and sagittal suture may serve as acoustic ultrasound windows in the transvaginal brain scan, allowing to obtain high-resolution neuroimages of the intracranial structures. Furthermore, three-dimensional (3D) ultrasound combined with the transvaginal brain approach provides detailed and sophisticated neuroimages...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28499675/growth-and-psychological-development-in-postoperative-patients-with-anterior-encephaloceles
#10
Hemonta Kumar Dutta, Chow Wachana Khangkeo, Kaberi Baruah, Debasish Borbora
PURPOSE: Anterior encephaloceles are rare malformations that are frequently associated with other brain anomalies. This study evaluates the growth and psychological development of children following encephalocele repair. MATERIALS & METHODS: Growth and psychological assessment was done in 24 children with only encephalocele (group I); nine children with encephalocele and hydrocephalus (group II); seven children with encephalocele, hydrocephalus, and secondary malformations (group III); and 40 apparently healthy control subjects...
February 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28492766/clinical-epidemiological-description-of-live-births-with-microcephaly-in-the-state-of-sergipe-brazil-2015
#11
Cibelle Mendes Cabral, Martha Elizabeth Brasil da Nóbrega, Priscila Leal E Leite, Mércia Simone Feitosa de Souza, Daniela Cabral Pizzi Teixeira, Taíse Ferreira Cavalcante, Raulinna Gomes de Souza Lima, Lúcia Maria Sayde de Azevedo Tavares, Priscila Bochi de Souza, Eduardo Saad
OBJECTIVE: to describe the clinical and epidemiological characteristics of microcephaly cases in live births in Sergipe, Brazil, and to calculate the prevalence in its municipalities. METHODS: this is a descriptive study on live births from September 1st to November 30th, 2015, with data from medical records and interviews with mothers. RESULTS: 83 cases of microcephaly were confirmed, with three deaths; prevalence in the 26 municipalities with confirmed cases ranged from 18 to 185/10,000 live births; the median of head circumference was 31 cm (range: 22...
April 2017: Epidemiologia e Servicos de Saude: Revista do Sistema Unico de Saude do Brasil
https://www.readbyqxmd.com/read/28439672/altered-intra-and-interregional-synchronization-in-the-absence-of-the-corpus-callosum-a-resting-state-fmri-study
#12
Long Zuo, Shuangkun Wang, Junliang Yuan, Hua Gu, Yang Zhou, Tao Jiang
Agenesis of the corpus callosum (AgCC) can result in subtle to severe cognitive deficits. Individuals with impaired cognition often show abnormalities on resting-state functional magnetic resonance imaging (rs-fMRI). This study used rs-fMRI to investigate changes in regional homogeneity (ReHo) and functional connectivity (FC) among individuals with AgCC. AgCC individuals (n = 10) and age-, sex-, and education-matched healthy control subjects (n = 19) were included in this study. The ReHo values were calculated to represent spontaneous brain activity...
April 24, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28436562/anatomical-subgroup-analysis-of-the-meridian-cohort-failed-commissuration
#13
Paul D Griffiths, Karen Brackley, Michael Bradburn, Daniel Ja Connolly, Mary L Gawne-Cain, Daniel I Griffiths, Mark D Kilby, Laura Mandefield, Cara Mooney, Stephen C Robson, Brigitte Vollmer, Gerald Mason
OBJECTIVE: To assess the contribution of in utero magnetic resonance (iuMR) imaging in fetuses diagnosed with either agenesis of the corpus callosum or hypogenesis of the corpus callosum (grouped as failed commissuration) on antenatal ultrasonography (USS) from the MERIDIAN cohort. METHODS: We report a sub-group analysis of fetuses with failed commissuration diagnosed on USS (with or without ventriculomegaly) from the MERIDIAN study who had iuMR imaging within 2 weeks of USS and outcome reference data were available...
April 24, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28431033/emotional-intelligence-in-agenesis-of-the-corpus-callosum
#14
Luke B Anderson, Lynn K Paul, Warren S Brown
People with agenesis of the corpus callosum (AgCC) with normal general intelligence have deficits in complex cognitive processing, as well as in social cognition. It is uncertain the extent to which impoverished processing of emotions may contribute to social processing deficiencies. We used the Mayer-Salovey-Caruso Emotional Intelligence Test to clarify the nature of emotional intelligence in 16 adults with AgCC. As hypothesized, persons with AgCC exhibited greater disparities from norms on tests involving more socially complex aspects of emotions...
May 1, 2017: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://www.readbyqxmd.com/read/28395085/partial-agenesis-and-hypoplasia-of-the-corpus-callosum-in-idiopathic-autism
#15
Jarek Wegiel, Michael Flory, Wojciech Kaczmarski, W Ted Brown, Kathryn Chadman, Thomas Wisniewski, Krzysztof Nowicki, Izabela Kuchna, Shuang Yong Ma, Jerzy Wegiel
To test the hypothesis that developmental anomalies of the corpus callosum (CC), contribute to the pathogenesis of autism, we characterized the type, topography, and severity of CC pathology corresponding to reduced CC areas that are detected by magnetic resonance imaging in the brains of 11 individuals with autism and 11 controls. In the brains of 3 autistic subjects, partial CC agenesis resulted in complete or partial lack of interhemispheric axonal connections in CC segments III-V. In these cases, a combination of focal agenesis and uniform axonal deficit caused reduction of CC areas by 37%, of axon numbers by 62%, and of the numerical density of axons by 39%...
March 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28386950/gastrointestinal-disorders-in-curry-jones-syndrome-clinical-and-molecular-insights-from-an-affected-newborn
#16
Kristen Wigby, Stephen R F Twigg, Ryan Broderick, Katherine P Davenport, Andrew O M Wilkie, Stephen W Bickler, Marilyn C Jones
Curry-Jones syndrome (CJS) is a pattern of malformation that includes craniosynostosis, pre-axial polysyndactyly, agenesis of the corpus callosum, cutaneous and gastrointestinal abnormalities. A recurrent, mosaic mutation of SMO (c.1234 C>T; p.Leu412Phe) causes CJS. This report describes the gastrointestinal and surgical findings in a baby with CJS who presented with abdominal obstruction and reviews the spectrum of gastrointestinal malformations in this rare disorder. A 41-week, 4,165 g, female presented with craniosynostosis, pre-axial polysyndactyly, and cutaneous findings consistent with a clinical diagnosis of CJS...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28361097/independent-variant-analysis-of-tead1-and-ocel1-in-38-aicardi-syndrome-patients
#17
Bibiana K Y Wong, Vernon R Sutton, Richard A Lewis, Ignatia B Van den Veyver
BACKGROUND: Aicardi syndrome is a severe neurodevelopmental disorder characterized by infantile spasms, typical chorioretinal lacunae, agenesis of the corpus callosum, and other neuronal migration defects. It has been reported recently that de novo variants in TEAD1 and OCEL1 each may cause Aicardi syndrome in a single individual of a small cohort of females with this clinical diagnosis. These data were interpreted to suggest that the clinical diagnosis of Aicardi syndrome may be genetically heterogeneous...
March 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28336463/identification-of-a-de-novo-microdeletion-1q44-in-a-patient-with-hypogenesis-of-the-corpus-callosum-seizures-and-microcephaly-a-case-report
#18
Dominik S Westphal, Stephanie Andres, Kirsten I Beitzel, Christine Makowski, Thomas Meitinger, Julia Hoefele
Microdeletion 1q44 on the long arm of chromosome 1 leads to a phenotype that includes microcephaly, seizure, agenesis or hypogenesis of the corpus callosum, polydactyly, congenital heart defects and severe developmental delay along with characteristic facial dysmorphic signs. Until today, the distinct genetic causes for the different symptoms remain unclear. We here report a 1.2Mb de novo microdeletion 1q44 identified by performing a SNP array analysis. The female patient presented with microcephaly, seizure, hypogenesis of corpus callosum, postaxial hexadactyly, an atrial septal defect, a ventricular septal defect, hypertelorism, a long and smooth philtrum, thin vermilion borders, and micrognathia, all common features of microdeletion 1q44...
June 15, 2017: Gene
https://www.readbyqxmd.com/read/28320840/k-channel-kv3-4-is-essential-for-axon-growth-by-limiting-the-influx-of-ca-2-into-growth-cones
#19
Chia-Yi Huang, Cheng-Chang Lien, Chau-Fu Cheng, Ting-Yun Yen, Chieh-Ju Chen, Meei-Ling Tsaur
Membrane excitability in the axonal growth cones of embryonic neurons influences axon growth. Voltage-gated K(+) (Kv) channels are key factors in controlling membrane excitability, but whether they regulate axon growth remains unclear. Here, we report that Kv3.4 is expressed in the axonal growth cones of embryonic spinal commissural neurons, motoneurons, dorsal root ganglion neurons, retinal ganglion cells and callosal projection neurons during axon growth. Our in vitro (cultured dorsal spinal neurons of chick embryos) and in vivo (developing chick spinal commissural axons and rat callosal axons) findings demonstrate that knockdown of Kv3...
March 20, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28299356/an-exome-sequencing-study-of-moebius-syndrome-including-atypical-cases-reveals-an-individual-with-cfeom3a-and-a-tubb3-mutation
#20
Ronak M Patel, David Liu, Claudia Gonzaga-Jauregui, Shalini Jhangiani, James T Lu, V Reid Sutton, Susan D Fernbach, Mahshid Azamian, Lisa White, Jane C Edmond, Evelyn A Paysse, John W Belmont, Donna Muzny, James R Lupski, Richard A Gibbs, Richard Alan Lewis, Brendan H Lee, Seema R Lalani, Philippe M Campeau
Moebius syndrome is characterized by congenital unilateral or bilateral facial and abducens nerve palsies (sixth and seventh cranial nerves) causing facial weakness, feeding difficulties, and restricted ocular movements. Abnormalities of the chest wall such as Poland anomaly and variable limb defects are frequently associated with this syndrome. Most cases are isolated; however, rare families with autosomal dominant transmission with incomplete penetrance and variable expressivity have been described. The genetic basis of this condition remains unknown...
March 2017: Cold Spring Harbor Molecular Case Studies
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