4,317 results match your criteria Corpus Callosum Agenesis


Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation.

Pediatr Neurol 2018 Dec 24. Epub 2018 Dec 24.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Background: Arrest of fetal brain development and the fetal brain disruption sequence describe a severe phenotype involving microcephaly, occipital bone prominence, and scalp rugae. Congenital disorders of glycosylation are a heterogeneous group of inherited disorders involved in glycoprotein and glycolipid biosynthesis, which can cause microcephaly and severe neurodevelopmental disability.

Methods: We report an example of fetal microcephaly diagnosed at 36 weeks' gestation with a history of normal fetal biometry at 20 weeks' gestation. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.12.009DOI Listing
December 2018

Fetal MRI findings in a retrospective cohort of 26 cases of prenatally diagnosed charge syndrome individuals.

Prenat Diagn 2019 Feb 4. Epub 2019 Feb 4.

Service de Radiologie, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), France.

"CHARGE syndrome" (CS) is a multifaceted syndrome associated with a poor prognosis. The prenatal diagnosis remains challenging especially as the fetal anomalies that may evoke suspicion of CS are not comprehensively described.

Objective: This study aims to identify the anomalies in MRI with suspected CHARGE syndrome and to propose a possible standardization in the image-based prenatal diagnosis of CS. Read More

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http://dx.doi.org/10.1002/pd.5429DOI Listing
February 2019

Prenatal detection of right aortic arch.

Arch Gynecol Obstet 2019 Jan 31. Epub 2019 Jan 31.

Department of Gynecology and Obstetrics, Division of Feto-Maternal Medicine, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.

Purpose: To examine an unselective population of fetuses with right aortic arch (RAA) and suggest perinatal management. Second, to evaluate the importance and possible implication of fetal MRI in those cases.

Methods: Retrospective study of 36 patients with RAA diagnosed prenatally between 2006 and 2017 in a tertiary referral center. Read More

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http://dx.doi.org/10.1007/s00404-019-05056-5DOI Listing
January 2019
1 Read

Lipoma with agenesis of the corpus callosum: about 02 cases with literature review.

World Neurosurg 2019 Jan 28. Epub 2019 Jan 28.

Departement of Radiology, Avicenne Military Hospital, Marrakech, Morocco.

Intra-cranial lipomas are extremely rare fat-containing lesion, comprising 0.1 to 0.5 of all primary brain tumours. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.01.088DOI Listing
January 2019

ORAL-FACIAL-DIGITAL SYNDROME TYPE I (CLINICAL CASE).

Georgian Med News 2018 Dec(285):47-51

Uzhhorod National University; Uzhgorod City Children's Clinical Hospital, Ukraine.

The oral-facial-digital syndrome belongs to a group of hereditary diseases, manifested by multiple birth defects (usually, the face and fingers). At the current stage, there are 14 genetic variations of the oral-facial-digital syndrome. The presence of various abnormalities of the oral cavity, face and fingers is common for all of them, but each syndrome has a specific phenotype or type of inheritance. Read More

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December 2018
1 Read

Correction to: Congenital pial AVF along the falx cerebri with complete agenesis of the corpus callosum and bilateral parasagittal pachygyria-polymicrogyria secondary to chronic ischemia.

Childs Nerv Syst 2019 Jan 29. Epub 2019 Jan 29.

Department of Diagnostic Imaging, National University Health System, 1E Kent Ridge Rd, Singapore, 119228, Singapore.

The article which was recently published contained error. Fig. 1 was incorrectly processed as Fig. Read More

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http://dx.doi.org/10.1007/s00381-019-04052-zDOI Listing
January 2019

The Neuropsychological Syndrome of Agenesis of the Corpus Callosum.

J Int Neuropsychol Soc 2019 Jan 29:1-7. Epub 2019 Jan 29.

2California Institute of Technology,Division of Humanities and Social Sciences,Pasadena,California.

Background: Agenesis of the corpus callosum (AgCC) involves congenital absence of all or part of the corpus callosum. Because the disorder can only be firmly diagnosed via neuroradiology, it has a short research history, and only recently has the cognitive syndrome become clear.

Purpose: Our purpose is to review the primary deficits in AgCC that constitute the core syndrome. Read More

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http://dx.doi.org/10.1017/S135561771800111XDOI Listing
January 2019

Awareness of consequences in agenesis of the corpus callosum: Semantic analysis of responses.

Neuropsychology 2019 Feb 21;33(2):275-284. Epub 2019 Jan 21.

Graduate School of Psychology, Travis Research Institute, Fuller Theological Seminary.

Objective: Agenesis of the corpus callosum (AgCC) in individuals with general intelligence within the normal range results in a syndrome of mild to moderate deficiencies in cognitive, emotional, and social functioning that are still being explored. Anecdotal accounts from families suggest that these cognitive and psychosocial deficiencies affect the ability of these individuals to anticipate the consequences of their decisions and behaviors. This research was designed to clarify the nature of social and emotional cognition in AgCC with respect to imagination of the consequences of decisions by assessing responses from the Awareness of Consequences Scale (AOCS). Read More

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http://doi.apa.org/getdoi.cfm?doi=10.1037/neu0000512
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http://dx.doi.org/10.1037/neu0000512DOI Listing
February 2019
3 Reads

Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly.

Am J Med Genet A 2019 Mar 13;179(3):494-497. Epub 2019 Jan 13.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

Biallelic variants in the NDE1 gene have been shown to occur in extreme microcephaly. Most of the patients displayed microlissencephaly but one with microhydranencephaly. We report on three sibs in which the brain MRI and CT scans demonstrated variable degree of reduced volume of cerebral hemispheres and ventriculomegaly. Read More

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http://dx.doi.org/10.1002/ajmg.a.61035DOI Listing
March 2019
1 Read

Long-lasting diagonistic dyspraxia suppressed by rTMS applied to the right motor cortex.

J Neurol 2019 Jan 10. Epub 2019 Jan 10.

Gerontology Pole, Hôpitaux Civils, Colmar, France.

We describe the case of a 58-year-old patient with complete callosal agenesis, who developed after a stroke a long lasting and distressing diagonistic dyspraxia. We found two original treatments to relieve the patient from his left limb conflicting movements. Reinforcing left arm sensory input minimized dyspraxic movements but was difficult to apply daily and was found unsatisfactory by the patient. Read More

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http://dx.doi.org/10.1007/s00415-018-09178-9DOI Listing
January 2019

Duplication of 10q24 locus: broadening the clinical and radiological spectrum.

Eur J Hum Genet 2019 Jan 8. Epub 2019 Jan 8.

RADEME, EA 7364, Lille University, Lille, France.

Split-hand-split-foot malformation (SHFM) is a rare condition that occurs in 1 in 8500-25,000 newborns and accounts for 15% of all limb reduction defects. SHFM is heterogeneous and can be isolated, associated with other malformations, or syndromic. The mode of inheritance is mostly autosomal dominant with incomplete penetrance, but can be X-linked or autosomal recessive. Read More

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http://www.nature.com/articles/s41431-018-0326-9
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http://dx.doi.org/10.1038/s41431-018-0326-9DOI Listing
January 2019
4 Reads

De Novo Mutated TUBB2B Associated Pachygyria Diagnosed by Medical Exome Sequencing and Long-Range PCR.

Fetal Pediatr Pathol 2018 Dec 26:1-9. Epub 2018 Dec 26.

b Prenatal Diagnosis Center , Shenzhen Maternity and Child Healthcare Hospital , Shenzhen , China.

Introduction: A range of cerebrocortical development malformations (MCD) ranging from simplified gyral patterns to the complete loss of gyri and sulci is associated with mutations in a cluster of highly homolog β-tublin genes, such as TUBB2A and TUBB2B.

Case Report: The fetus had pachygyria, asymmetrical perisylvian polymicrogyria, dysplasia of the lateral sulcus and insula, agenesis of the splenium and partial agenesis of the body corpus callosum, cerebellar superior vermian hypoplasia with agenesis of the inferior vermis. Karyotype and microarray were normal. Read More

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http://dx.doi.org/10.1080/15513815.2018.1538273DOI Listing
December 2018
1 Read
0.398 Impact Factor

Agenesis of the corpus callosum with interhemispheric cyst: clinical implications and outcome.

BMJ Case Rep 2018 Dec 3;11(1). Epub 2018 Dec 3.

Neonatology, KK Women's and Children's Hospital, Singapore.

We describe two cases of agenesis of the corpus callosum (ACC) with interhemispheric cyst (IHC). Case 1: a male infant was born at 36 weeks gestation with a history of second trimester fetal ultrasound (US) scan and MRI showing ACC with IHC. His head circumference at birth and 5 months was at 90th centile. Read More

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http://dx.doi.org/10.1136/bcr-2018-227366DOI Listing
December 2018
6 Reads

Analysis of novel domain-specific mutations in the zebrafish / gene generated using CRISPR-Cas9 RNPs.

J Genet 2018 Dec;97(5):1315-1325

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.

Nodal-related protein (ndr2) is amember of the transforming growth factor type β superfamily of factors and is required for ventral midline patterning of the embryonic central nervous system in zebrafish. In humans, mutations in the gene encoding nodal cause holoprosencephaly and heterotaxy. Mutations in the gene in the zebrafish () lead to similar phenotypes, including loss of the medial floor plate, severe deficits in ventral forebrain development and cyclopia. Read More

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December 2018
1 Read

Digynic triploidy in a fetus presenting with semilobar holoprosencephaly.

Taiwan J Obstet Gynecol 2018 Dec;57(6):881-884

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

Objective: We present digynic triploidy in a fetus with semilobar holoprosencephaly (HPE).

Case Report: A 32-year-old, gravid 1, para 0, woman underwent prenatal ultrasound examination at 12 weeks of gestation, and the ultrasound showed relative macrocephaly, a small non-cystic placenta, and a fetus with absent nasal bone and semilobar HPE. The pregnancy was terminated subsequently, and a 50-g fetus was delivered with a relatively enlarged head and premaxillary agenesis. Read More

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http://dx.doi.org/10.1016/j.tjog.2018.11.001DOI Listing
December 2018
1 Read

Congenital pial AVF along the falx cerebri with complete agenesis of the corpus callosum and bilateral parasagittal pachygyria-polymicrogyria secondary to chronic ischemia.

Childs Nerv Syst 2018 Dec 11. Epub 2018 Dec 11.

Department of Diagnostic Imaging, National University Health System, 1E Kent Ridge Rd, Singapore, 119228, Singapore.

Objective: Pial arteriovenous fistula (AVF) is an extremely rare entity due to direct arterial connection with the venous plexus without an intervening capillary network. The objective of this article is to describe a unique case of congenital pial AVF along the interhemispheric falx with complete callosal agenesis and malformation of cortical development within the bilateral anterior cerebral artery territories. We also demonstrated the distinctive feature of temporal stability of the extensive intracranial abnormalities without active intervention. Read More

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http://dx.doi.org/10.1007/s00381-018-4019-zDOI Listing
December 2018
1 Read

Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination.

Am J Med Genet C Semin Med Genet 2018 Dec 10;178(4):423-431. Epub 2018 Dec 10.

Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

Aicardi syndrome is a rare, severe neurodevelopmental disorder classically characterized by the triad of infantile spasms, central chorioretinal lacunae, and agenesis of the corpus callosum. Aicardi syndrome only affects females, with the exception of a few males with a 47, XXY chromosome constitution. All cases are de novo and the only cases of definitive recurrence in families are in identical twins. Read More

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http://dx.doi.org/10.1002/ajmg.c.31658DOI Listing
December 2018
2 Reads
3.906 Impact Factor

Double autosomal trisomy with mosaicism 47,XY(+8)∕47,XY(+21). Morphological and genetic changes of a rare case.

Rom J Morphol Embryol 2018 ;59(3):985-988

Department of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, Romania;

The co-occurrence in the same individual of two numerical chromosomal abnormalities (double aneuploidy) is a very rare condition, especially for autosomes. Clinical presentations are variable depending on the predominating aneuploidy. The authors present a rare case of a male infant with multiple congenital anomalies: craniofacial dysmorphism, short neck, agenesis of the corpus callosum, ventricular septal defect, bilateral broad hallux, large first interdigital space of the toes, plantar furrows, prominent calcaneus and right kidney agenesis. Read More

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January 2019
6 Reads

Schizencephaly: A Review of 734 Patients.

Pediatr Neurol 2018 Oct 8;87:23-29. Epub 2018 Aug 8.

Pediatric Oncology Institute/GRAACC, Department of Pediatrics, Universidade Federal de São Paulo, São Paulo, Brazil.

Background: Schizencephaly is a rare congenital cerebral malformation associated with serious neurological manifestations. The number of studies regarding schizencephaly is limited.

Methods: We conducted a literature review and extracted data from the case reports. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.08.001DOI Listing
October 2018
1 Read

Clinical outcomes following prenatal diagnosis of asymmetric ventriculomegaly, interhemispheric cyst, and callosal dysgenesis (AVID).

Prenat Diagn 2019 Jan 21;39(1):26-32. Epub 2018 Dec 21.

Department of Radiology, Oregon Health & Science University, Portland, Oregon.

Objectives: When identified prenatally, the imaging triad of asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum (AVID) can indicate a more serious congenital brain anomaly. In this follow-up series of 15 fetuses, we present the neurodevelopmental outcomes of a single institution cohort of children diagnosed prenatally with AVID.

Methods: Our fetal ultrasound database was queried for cases of AVID between 2000 and 2016. Read More

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http://dx.doi.org/10.1002/pd.5393DOI Listing
January 2019
1 Read

Corpus callosum agenesis and clinically isolated syndrome (CIS): A case report.

Mult Scler Relat Disord 2019 01 17;27:342-343. Epub 2018 Nov 17.

MS Research Center, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22110348183051
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http://dx.doi.org/10.1016/j.msard.2018.11.017DOI Listing
January 2019
1 Read

mutation affects ER homeostasis, causing neurological syndrome.

J Med Genet 2018 Nov 21. Epub 2018 Nov 21.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.

Background: Consanguineous kindred presented with an autosomal recessive syndrome of intrauterine growth retardation, marked developmental delay, spastic quadriplegia with profound contractures, pseudobulbar palsy with recurrent aspirations, epilepsy, dysmorphism, neurosensory deafness and optic nerve atrophy with no eye fixation. Affected individuals died by the age of 4. Brain MRI demonstrated microcephaly, semilobar holoprosencephaly and agenesis of corpus callosum. Read More

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http://dx.doi.org/10.1136/jmedgenet-2018-105503DOI Listing
November 2018
6 Reads

Congenital Hydrocephalus, Corpus Callosum Agenesis, and Prosencephalic Cyst with Supernumerary Nostril: A Neurocristopathy.

Asian J Neurosurg 2018 Oct-Dec;13(4):1239-1243

Department of Paediatrics, SMS Medical College, Jaipur, Rajasthan, India.

A 3-month-old-male infant presented with enlargement of head since birth. Clinical and radiological evaluation revealed congenital hydrocephalus, corpus callosum agenesis, prosencephalic cyst, and cranial vault deficiency with supernumerary nostril on the left side. Right ventriculoperitoneal shunt (Chhabra shunt) surgery was performed. Read More

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http://dx.doi.org/10.4103/ajns.AJNS_128_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208241PMC
November 2018
9 Reads

Fetal midline anomalies: Diagnosis and counselling Part 1: Corpus callosum anomalies.

Eur J Paediatr Neurol 2018 Nov 21;22(6):951-962. Epub 2018 Oct 21.

Womenś Health and Perinatology Research Group, Department of Clinical Medicine, Faculty of Health Sciences, UiT-The Arctic University of Norway, Tromsø, Norway; Department of Obstetrics and Gynaecology, University Hospital of Northern Norway, Tromsø, Norway. Electronic address:

Midline anomalies encompasses a heterogeneous group of conditions caused by an abnormal process of ventral induction after the end of primary neurulation. Advances in prenatal imaging techniques have led to an increase in the detection rate of such anomalies since the first trimester of pregnancy although a significant proportion of them remain undiagnosed until birth. Ultrasound is the primary technique in detecting such anomalies while fetal magnetic resonance imaging (MRI) is commonly performed to confirm the diagnosis and detect additional anomalies, especially those involving the cortical surface of the brain, which may potentially impact post-natal outcome. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10903798183020
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http://dx.doi.org/10.1016/j.ejpn.2018.08.007DOI Listing
November 2018
15 Reads

Altered GLI3 and FGF8 signaling underlies Acrocallosal syndrome phenotypes in Kif7 depleted mice.

Hum Mol Genet 2018 Nov 15. Epub 2018 Nov 15.

Université Claude Bernard Lyon 1,CNRS UMR-5310, INSERM U-1217, Institut NeuroMyoGène, Lyon, France.

Acrocallosal syndrome (ACLS) is a rare genetic disorder characterized by agenesis or hypoplasia of corpus callosum (CC), polydactyly, craniofacial dysmorphism and severe intellectual deficiency. We previously identified KIF7, a key ciliary component of the Sonic hedgehog pathway, as being a causative gene for this syndrome, thus including ACLS in the group of ciliopathies. In both humans and mice, KIF7 depletion leads to abnormal GLI3 processing and over-activation of SHH target genes. Read More

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http://fdslive.oup.com/www.oup.com/pdf/production_in_progres
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http://dx.doi.org/10.1093/hmg/ddy392DOI Listing
November 2018
8 Reads

Chronic Hyponatremia Due to the Syndrome of Inappropriate Antidiuresis (SIAD) in an Adult Woman with Corpus Callosum Agenesis (CCA).

Am J Case Rep 2018 Nov 12;19:1345-1349. Epub 2018 Nov 12.

Department of Nephrology, University of São Paulo, School of Medicine, São Paulo, SP, Brazil.

BACKGROUND Corpus callosum agenesis (CCA) is one of the most common congenital brain abnormalities, and is associated with neurodevelopmental and neuropsychiatric disorders. In CCA, defects in osmoregulation have been reported. This report presents a rare case of chronic hyponatremia associated with the syndrome of inappropriate antidiuresis (SIAD) in a woman with CCA. Read More

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http://dx.doi.org/10.12659/AJCR.911810DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240929PMC
November 2018
1 Read

[Time Perception in an Individual with Split Brain].

Authors:
Yuko Yotsumoto

Brain Nerve 2018 Nov;70(11):1165-1172

Department of Life Sciences, Graduate School of Arts and Sciences, The University of Tokyo.

Time information is processed and perceived consciously and unconsciously in our daily life. Since time information is based on multiple inputs from multiple sensory modalities, its processing involves various brain regions. In this study, we investigated the role of the corpus callosum in time perception of task-relevant visual stimuli, with inhibition of the task-irrelevant stimuli, in an individual with agenesis of the corpus callosum. Read More

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http://dx.doi.org/10.11477/mf.1416201161DOI Listing
November 2018
10 Reads

FOXG1 Orchestrates Neocortical Organization and Cortico-Cortical Connections.

Neuron 2018 Dec 1;100(5):1083-1096.e5. Epub 2018 Nov 1.

Papé Family Pediatric Research Institute, Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239, USA; Vollum Institute, Oregon Health & Science University, Portland, OR 97239, USA. Electronic address:

The hallmarks of FOXG1 syndrome, which results from mutations in a single FOXG1 allele, include cortical atrophy and corpus callosum agenesis. However, the etiology for these structural deficits and the role of FOXG1 in cortical projection neurons remain unclear. Here we demonstrate that Foxg1 in pyramidal neurons plays essential roles in establishing cortical layers and the identity and axon trajectory of callosal projection neurons. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S08966273183090
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http://dx.doi.org/10.1016/j.neuron.2018.10.016DOI Listing
December 2018
4 Reads

Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.

Eur J Med Genet 2018 Dec 31;61(12):783-789. Epub 2018 Oct 31.

Department Clinical Genetics, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands. Electronic address:

Heterozygous gain of function mutations in the ZIC1 gene have been described with syndromic craniosynostosis, variable cerebral or cerebellar abnormalities and mild to moderate developmental delay. Deletion of chromosome 3q25.1 including both adjacent ZIC1 and ZIC4 genes have been described as a cause of variable cerebellar abnormalities including Dandy-Walker malformation. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.10.018DOI Listing
December 2018
10 Reads

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Am J Hum Genet 2018 Nov;103(5):752-768

Queensland Brain Institute, The University of Queensland, Brisbane, QLD 4072, Australia; School of Biomedical Sciences, The Faculty of Medicine Brisbane, The University of Queensland, Brisbane, QLD 4072, Australia.

The nuclear factor I (NFI) family of transcription factors play an important role in normal development of multiple organs. Three NFI family members are highly expressed in the brain, and deletions or sequence variants in two of these, NFIA and NFIX, have been associated with intellectual disability (ID) and brain malformations. NFIB, however, has not previously been implicated in human disease. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183035
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http://dx.doi.org/10.1016/j.ajhg.2018.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218805PMC
November 2018
17 Reads

PRICKLE1-related early onset epileptic encephalopathy.

Am J Med Genet A 2018 Dec 22;176(12):2841-2845. Epub 2018 Oct 22.

Department of Human Neuroscience, "Sapienza, University of Rome", Rome, Italy.

The PRICKLE1 (Prickle Planar Cell Polarity Protein 1-MIM 608500) gene is involved in different phases of human development. The related diseases include autosomal recessive progressive myoclonus epilepsy - ataxia syndrome, neural tube defects associated with heterozygous mutations, agenesis of corpus callosum, polymicrogyria, and autistic spectrum disorder. Reported here is a young boy with a new variant (NM_153026. Read More

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http://doi.wiley.com/10.1002/ajmg.a.40625
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http://dx.doi.org/10.1002/ajmg.a.40625DOI Listing
December 2018
9 Reads

Neuroimaging Findings in a Child With SensorineuralHearing Loss.

Pediatr Neurol 2018 Nov 16;88:75-76. Epub 2018 Aug 16.

Division of Neuroradiology and Pediatric Radiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994183052
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.08.012DOI Listing
November 2018
7 Reads

Anesthetic Management in Corpus Callosum Agenesis.

Anesth Essays Res 2018 Jul-Sep;12(3):758-760

Department of Anesthesiology, Health Sciences University, Ümraniye Training and Research Hospital, Istanbul, Turkey.

Corpus callosum agenesis develops when the band which connects the two hemispheres of the brain does not occur in utero. It is associated with prenatal infections, genetic factors, toxic exposures, metabolic disorders, and chromosome errors. Mostly seen clinical features are macrocephaly, microcephaly, seizures, motor retardation, hypotonia, eye anomalies, and facial dysmorphisms. Read More

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http://www.aeronline.org/text.asp?2018/12/3/758/240883
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http://dx.doi.org/10.4103/aer.AER_91_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157239PMC
October 2018
3 Reads

Unbalanced 14;X Translocation and Pattern of X Inactivation in a Female Patient with Multiple Congenital Anomalies.

Cytogenet Genome Res 2018 Sep 29. Epub 2018 Sep 29.

We report on a female patient who was first evaluated at the age of 6 years with developmental delay, dysmorphic facial features, seizures, and autistic behavior. A brain CT showed complete agenesis of the corpus callosum, and EEG recorded bilateral epileptogenic foci. Karyotype analysis revealed 45,X,psu dic(14;X)(p11;p22). Read More

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http://dx.doi.org/10.1159/000492546DOI Listing
September 2018
1.561 Impact Factor

Phenotypic and molecular insights into PQBP1-related intellectual disability.

Am J Med Genet A 2018 Nov 23;176(11):2446-2450. Epub 2018 Sep 23.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

We report two discordant clinical and imaging features in four male patients from two unrelated families of Egyptian descent with hemizygous pathogenic variants in PQBP1. The three patients of the first family displayed the typical features underlying PQBP1 such as the long triangular face, bulbous nose, hypoplastic malar region, and micrognathia, which were subsequently confirmed using targeted sequence analysis that showed a previously reported nonsense mutation c.586C>T p. Read More

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http://dx.doi.org/10.1002/ajmg.a.40479DOI Listing
November 2018
4 Reads

Aicardi syndrome in a 20-year-old female.

Am J Ophthalmol Case Rep 2018 Dec 6;12:61-64. Epub 2018 Sep 6.

Department of Pathology, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA, 52242, USA.

Purpose: To describe an unusual case of Aicardi Syndrome that both affirms hallmark characteristics of the condition and introduces new observations.

Observations: We report the case of a 20-year-old woman with Aicardi Syndrome who presented in respiratory distress with bradycardia and died soon thereafter. She had a history of severe mental retardation, seizure disorder, advanced scoliosis and numerous contractures in addition to congenital ocular malformations resulting in bilateral blindness. Read More

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http://dx.doi.org/10.1016/j.ajoc.2018.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6143771PMC
December 2018
1 Read

Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome).

Eur J Paediatr Neurol 2018 Nov 29;22(6):1081-1086. Epub 2018 Aug 29.

Neurology Unit, S. Anna Hospital, Como, Italy. Electronic address:

Introduction: Shapiro syndrome (SS) is characterized by spontaneous recurrent episodes of hypothermia, hyperhidrosis and corpus callosum (CC) agenesis. Less than 60 cases have been reported to date and the pathogenic mechanism as well as the prognosis of this syndrome are still debated. We describe the clinical features and long-term follow-up of a pediatric cohort of SS patients. Read More

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http://dx.doi.org/10.1016/j.ejpn.2018.08.004DOI Listing
November 2018
14 Reads

Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability.

J Hum Genet 2018 Nov 4;63(11):1189-1193. Epub 2018 Sep 4.

Department of Paediatrics, University of Szeged, Szeged, Hungary.

Heterozygous disruptions in FOXP1 are responsible for developmental delay, intellectual disability and speech deficit. Heterozygous germline PTCH1 disease-causing variants cause Gorlin syndrome. We describe a girl with extreme megalencephaly, developmental delay and severe intellectual disability. Read More

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http://dx.doi.org/10.1038/s10038-018-0508-xDOI Listing
November 2018

Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome.

Am J Med Genet A 2018 Dec 27;176(12):2803-2807. Epub 2018 Aug 27.

Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.

Vici syndrome is a rare, autosomal recessive, multisystem disorder, characterized by agenesis of the corpus callosum, cataracts, psychomotor delay, cardiomyopathy, hypopigmentation, and recurrent infections. Mutations in the ectopic P-granules autophagy protein 5 homolog gene (EPG5), which encodes a key autophagy regulator, are responsible for this syndrome. A 3-year-old Japanese girl manifesting similar symptoms to those found in patients with Vici syndrome showed intractable diarrhea, rather than immunodeficiency. Read More

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http://dx.doi.org/10.1002/ajmg.a.40500DOI Listing
December 2018
2 Reads

Teaching NeuroImages: Imaging features of -mediated mirror movements and isolated agenesis of the corpus callosum.

Neurology 2018 Aug;91(9):e886-e887

From the Queensland Brain Institute (T.J.E., L.J.R.), Faculty of Medicine (T.J.E.), and School of Biomedical Sciences (L.J.R.), The University of Queensland, Brisbane; Bruce Lefroy Centre for Genetic Health Research (A.P.L.M., P.J.L.) and Neuroscience Research Group (R.J.L.), Murdoch Children's Research Institute, and Department of Neurology (R.J.L.), Royal Children's Hospital; and Department of Paediatrics (A.P.L.M., P.J.L., R.J.L.) University of Melbourne, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000006085DOI Listing

Disorganized Patterns of Sulcal Position in Fetal Brains with Agenesis of Corpus Callosum.

Cereb Cortex 2018 Sep;28(9):3192-3203

Fetal Neonatal Neuroimaging and Developmental Science Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Fetuses with isolated agenesis of the corpus callosum (ACC) are associated with a broad spectrum of neurodevelopmental disability that cannot be specifically predicted in prenatal neuroimaging. We hypothesized that ACC may be associated with aberrant cortical folding. In this study, we determined altered patterning of early primary sulci development in fetuses with isolated ACC using novel quantitative sulcal pattern analysis which measures deviations of regional sulcal features (position, depth, and area) and their intersulcal relationships in 7 fetuses with isolated ACC (27. Read More

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http://dx.doi.org/10.1093/cercor/bhx191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6095213PMC
September 2018
23 Reads

A large posterior encephalocele associated with severe ventriculomegaly, cerebellar atrophy and transposition of the great arteries.

J Clin Ultrasound 2018 Nov 14;46(9):588-590. Epub 2018 Aug 14.

Department of Obstetrics and Gynecology, Trakya University Faculty of Medicine, Edirne, Turkey.

Posterior encephalocele is a neural tube defect, which is a sac-like protrusion of the neural tissue and cerebrospinal fluid through a defect in the occipital bone. This embryonic anomaly may coexist with cortical dysplasia, agenesis of the corpus callosum, hydrocephalus, microcephaly, craniofacial abnormalities, ventricular and atrial septal defect. We report a case of a large posterior encephalocele in a fetus accompanied by unexpected major abnormalities including transposition of the great arteries, severe ventriculomegaly and cerebellar atrophy. Read More

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http://doi.wiley.com/10.1002/jcu.22625
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http://dx.doi.org/10.1002/jcu.22625DOI Listing
November 2018
14 Reads

Fetal pericallosal lipomas - Clues to diagnosis in the second trimester.

Eur J Paediatr Neurol 2018 Nov 2;22(6):929-934. Epub 2018 Aug 2.

Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

Introduction: Pericallosal lipomas (PCL) are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum (CC). The lipomas are usually diagnosed prenatally during the third trimester. The purpose of this study was to identify 2nd trimester ultrasound findings that may hint to a later diagnosis of PCL and to evaluate their MRI evolution. Read More

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http://dx.doi.org/10.1016/j.ejpn.2018.07.011DOI Listing
November 2018
2 Reads

A Patient with Schizencephaly and Agenesis of Corpus Callosum with No Neurological Deficits.

J Neurosci Rural Pract 2018 Jul-Sep;9(3):404-405

Department of Medicine - Division of Neurology, St. George Hospital University Medical Center, University of Balamand, Lebanon.

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http://dx.doi.org/10.4103/jnrp.jnrp_564_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050766PMC
August 2018
12 Reads

Morning glory syndrome with Moyamoya disease: A rare association with role of imaging.

Indian J Radiol Imaging 2018 Apr-Jun;28(2):165-168

Department of Radio-Diagnosis, Kempegowda Institute of Medical Sciences, Bengaluru, Karnataka, India.

Morning glory disc anomaly (MGDA) is a congenital optic nerve anomaly characterized by a funnel-shaped excavation of the posterior globe that incorporates the optic disc. Most cases are isolated and not associated with systemic anomalies. Systemic anomalies include midline cranial facial defects, hypertelorism, agenesis of the corpus callosum, cleft lip and palate, basal encephalocele, congenital forebrain abnormalities, and renal anomalies. Read More

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http://dx.doi.org/10.4103/ijri.IJRI_219_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6038211PMC
July 2018
1 Read

Alobar holoprosencephaly associated with a rare chromosomal abnormality: Case report and literature review.

Medicine (Baltimore) 2018 Jul;97(29):e11521

Department of Obstetrics, Gynecology and Neonatology, Carol Davila University of Medicine and Pharmacy, Sf Ioan Emergency Hospital, Bucharest, Romania.

Rationale: Holoprosencephaly is a structural malformation of the brain that results from the complete or incomplete noncleavage of the forebrain of the embryo into 2 hemispheres. We report a severe case of alobar holoprosencephaly diagnosed at 38 weeks, associated with cebocephaly, microcephaly, and craniosynostosis.

Patient Concern: The main knowledge added by this case is the late ultrasound diagnosis and chromosomal analysis that revealed a very rare abnormality (45X/46,XX/47,XX) with mosaicism at chromosome 18. Read More

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http://dx.doi.org/10.1097/MD.0000000000011521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6086508PMC
July 2018
60 Reads
5.723 Impact Factor

Tubulin genes and malformations of cortical development.

Eur J Med Genet 2018 Dec 17;61(12):744-754. Epub 2018 Jul 17.

Department of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK. Electronic address:

A large number of genes encoding for tubulin proteins are expressed in the developing brain. Each is subject to specific spatial and temporal expression patterns. However, most are highly expressed in post-mitotic neurons during stages of neuronal migration and differentiation. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.07.012DOI Listing
December 2018
10 Reads