4,355 results match your criteria Corpus Callosum Agenesis


Detectability of the choroid plexus of the third ventricle with magnetic resonance ventriculography.

Jpn J Radiol 2019 Apr 23. Epub 2019 Apr 23.

Department of Radiology and Radiation Oncology, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimati-dori, Chuo-ku, Niigata-shi, Niigata, 951-8510, Japan.

Purpose: To clarify the detectability of the choroid plexus of the third ventricle (ChPl3V) with magnetic resonance ventriculography (MRVn) employing a steady-state free precession (SSFP) sequence in comparison to surgical endoscopic movies as a golden standard, as we encountered some clinical cases of total agenesis of corpus callosum (ACC) where we could not recognize the choroid plexus of the third ventricle and found no previous article addressing this problem.

Materials And Methods: This retrospective study included consecutive patients from 2010 to 2016 for whom endoscopic evaluation of the third ventricle was conducted. The anterior portion of the right and left streaks of ChPl3V was evaluated in 8 patients on 16 sites, while the posterior portion of both streaks of ChPl3V was evaluated in 13 patients on 26 sites. Read More

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http://dx.doi.org/10.1007/s11604-019-00834-2DOI Listing

Whole-exome sequencing reveals novel variant in female fetus with isolated agenesis of the corpus callosum.

Clin Case Rep 2019 Apr 19;7(4):656-660. Epub 2019 Feb 19.

Division of Genetics, Department of Pediatrics University of California San Diego California.

Whole-exome sequencing in a female fetus detected a variant. This X-linked gene was recently associated with intellectual disability and distinct pattern of malformation in females. Isolated agenesis of the corpus callosum has not been reported in association with . Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ccr3.2051
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http://dx.doi.org/10.1002/ccr3.2051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452501PMC
April 2019
1 Read

Transsphenoidal encephalocele, colpocephaly and corpus callosum agenesis in a midline cleft lip and palate patient: A very rare case.

Indian J Plast Surg 2018 Sep-Dec;51(3):334-335

Department of Plastic Surgery, Shija Hospitals and Research Institute, Imphal West, Manipur, India.

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http://dx.doi.org/10.4103/ijps.IJPS_118_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440357PMC

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia.

Am J Hum Genet 2019 Mar 29. Epub 2019 Mar 29.

Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA. Electronic address:

Microglia are CNS-resident macrophages that scavenge debris and regulate immune responses. Proliferation and development of macrophages, including microglia, requires Colony Stimulating Factor 1 Receptor (CSF1R), a gene previously associated with a dominant adult-onset neurological condition (adult-onset leukoencephalopathy with axonal spheroids and pigmented glia). Here, we report two unrelated individuals with homozygous CSF1R mutations whose presentation was distinct from ALSP. Read More

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http://dx.doi.org/10.1016/j.ajhg.2019.03.010DOI Listing
March 2019
10.931 Impact Factor

Selective Emotional Dysregulation in Splenium Agenesis. A Case Report of a Patient With Normal Cognitive Profile.

Front Psychol 2019 22;10:631. Epub 2019 Mar 22.

Faculty of Communication Sciences, Università della Svizzera Italiana, Lugano, Switzerland.

Patients with lesions of the corpus callosum are rare and may present different symptoms of the disconnection syndrome. However, to-date studies on callosotomized patients have not been conclusive, likely because of the non-uniform nature of clinical features, the extent of resection, and methods used to investigate specific and related deficits. Agenesis of the corpus callosum (AgCC) may be asymptomatic and discovered incidentally or associated with very slight deficits diagnosed during neurological examinations. Read More

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http://dx.doi.org/10.3389/fpsyg.2019.00631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438861PMC
March 2019
1 Read

Successful management of absent sternum in an infant using porcine acellular dermal matrix.

Arch Plast Surg 2019 Apr 11. Epub 2019 Apr 11.

Seattle Children's and Mary Bridge Children's Regional Cardiac Surgery Program, Tacoma, WA, USA.

Congenital absent sternum is a rare birth defect that requires early intervention for optimal long-term outcomes. Descriptions of the repair of absent sternum are limited to case reports, and no preferred method for management has been described. Herein, we describe the use of porcine acellular dermal matrix to reconstruct the sternum of an infant with sternal infection following attempted repair using synthetic mesh. Read More

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http://dx.doi.org/10.5999/aps.2018.00829DOI Listing
April 2019
6 Reads

Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient.

BMC Pediatr 2019 Apr 5;19(1):92. Epub 2019 Apr 5.

Neonatology Department, Miguel Servet Children's Hospital, Isabel la Católica Avenue 1-3, 50009, Zaragoza, Spain.

Background: Rasopathies are a group of genetic malformative syndromes including neurofibromatosis 1, Noonan, LEOPARD, Costello, cardio-facio-cutaneous, Legius, and capillary malformation-arteriovenous malformation syndromes.

Case Presentation: We present a female newborn that consulted at the emergency department with refusal to eat and sleepiness. A shortened femur, thickened nucal fold and suspect for agenesis of the corpus callosum were observed in prenatal ultrasound. Read More

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http://dx.doi.org/10.1186/s12887-019-1463-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449997PMC
April 2019
1 Read

Corpus callosum metrics predict severity of visuospatial and neuromotor dysfuntions in ARID1B mutations with Coffin-Siris syndrome.

Psychiatr Genet 2019 Mar 28. Epub 2019 Mar 28.

Faculty of Medicine, University of Paris Descartes (SPC) INSERM UMR 1178/1018-CESP, University of Paris Sud-Paris Saclay, UVSQ Villejuif and Paris Descartes, SPC.

ARID1B mutations in Coffin-Siris syndrome are a cause of intellectual disability (0.5-1%), with various degrees of autism and agenesis of the corpus callosum (10%). Little is known regarding the cognitive and motor consequences of ARID1B mutations in humans and no link has been made between corpus callosum anomalies and visuospatial and neuromotor dysfunctions. Read More

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http://dx.doi.org/10.1097/YPG.0000000000000225DOI Listing
March 2019
2 Reads

A Parkinson's Disease Patient without Corpus Callosum.

J Parkinsons Dis 2019 Mar 21. Epub 2019 Mar 21.

Department of Neurology and Neurosurgery, Medisch Spectrum Twente, Enschede, The Netherlands.

The authors report of a patient with Parkinson's disease in whom imaging revealed a complete agenesis of the corpus callosum. Although this co-occurrence is probably coincidental, this finding suggests that the bilateral degenerative changes in Parkinson's disease may occur independent of the interhemispheric connections. Read More

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http://dx.doi.org/10.3233/JPD-191599DOI Listing
March 2019
5 Reads

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.

Am J Hum Genet 2019 Apr 21;104(4):709-720. Epub 2019 Mar 21.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK. Electronic address:

The Mediator is an evolutionarily conserved, multi-subunit complex that regulates multiple steps of transcription. Mediator activity is regulated by the reversible association of a four-subunit module comprising CDK8 or CDK19 kinases, together with cyclin C, MED12 or MED12L, and MED13 or MED13L. Mutations in MED12, MED13, and MED13L were previously identified in syndromic developmental disorders with overlapping phenotypes. Read More

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http://dx.doi.org/10.1016/j.ajhg.2019.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451695PMC
April 2019
1 Read

Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation.

Eur J Med Genet 2019 Mar 17. Epub 2019 Mar 17.

Clinical Genetics, UFCSPA and Santa Casa de Misericórdia de Porto Alegre (SCMPA), RS, Brazil; Graduate Program in Pathology, UFCSPA, RS, Brazil. Electronic address:

Holoprosencephaly is the most common brain malformation in humans and it is a complex genetic disorder. We report on a patient with holoprosencephaly caused by a rare ZIC2 mutation presenting a bifid nose associated with a nasal fistula and an epidermal cyst, besides hypernatremia. The patient was a 1 year and 4 months old girl that developed an important neuropsychomotor delay. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.03.005DOI Listing
March 2019
1 Read

First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene.

Am J Med Genet A 2019 Mar 13. Epub 2019 Mar 13.

Department of Pediatrics and Medical Genetics, Medical University, Plovdiv, Bulgaria.

Andermann syndrome (AS) is caused by mutation of SLC12A6 gene. It comprises severe progressive sensory and motor neuropathy with early onset, varying degree of agenesis of corpus callosum (ACC) and mental retardation. AS occurs occasionally among population outside the northeastern Quebec-Saguenay-Lac- St-Jean and Charlevoix regions, inhabited by French Canadians. Read More

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http://dx.doi.org/10.1002/ajmg.a.61110DOI Listing

Case report: a novel mutation in ZIC2 in an infant with microcephaly, holoprosencephaly, and arachnoid cyst.

Medicine (Baltimore) 2019 Mar;98(10):e14780

Experimental Medicine Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD.

Rationale: Holoprosencephaly (HPE) is a severe congenital brain malformation resulting from failed or incomplete forebrain division in early pregnancy.

Patient Concerns: In this study, we reported a 9-month old infant girl with mild microcephaly, semilobor HPE, and arachnoid cyst.

Diagnoses: Potential genetic defects were screened directly using trio-case whole exome sequencing (WES) rather than traditional karyotype, microarray, and Sanger sequencing of select genes. Read More

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http://dx.doi.org/10.1097/MD.0000000000014780DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417543PMC
March 2019
2 Reads

Utility of indirect sonographic signs (including cavum septum pellucidum ratio) in midgestational screening for partial agenesis of corpus callosum.

J Clin Ultrasound 2019 Mar 5. Epub 2019 Mar 5.

Department of Ultrasound, Shengjing Hospital of China Medical University, Shenyang, China.

Purpose: This study was undertaken to evaluate the performance of indirect sonographic signs in detecting partial agenesis of the corpus callosum (pACC) at midgestation, focusing on the cavum septum pellucidum (CSP) ratio.

Methods: A retrospective case-controlled study of singleton pregnancies was conducted, examining fetuses diagnosed with isolated pACC and normal controls. At midgestational age, fetal head volumes were imaged with 3D US and stored for the evaluation of indirect sonographic findings in axial planes. Read More

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http://dx.doi.org/10.1002/jcu.22722DOI Listing
March 2019
2 Reads

Hemi-ESES associated with agenesis of the corpus callosum and normal cognition.

Epilepsy Behav Case Rep 2019 10;11:96-98. Epub 2019 Feb 10.

Children's Medical Centre, Tehran University of Medical Sciences, Tehran, Iran.

•Corpus callosum plays the important role in bilateral synchronous expression of focal discharges of ESES.•Sparing dominant hemisphere form continuous spike and slow waves during sleep accounts for normal cognitive scores.•Early detection and treatment of ESES have a great impact on cognitive and language scores and final prognosis. Read More

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http://dx.doi.org/10.1016/j.ebcr.2019.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384300PMC
February 2019
2 Reads

Septo-optic Dysplasia Plus Syndrome.

Cureus 2018 Dec 13;10(12):e3727. Epub 2018 Dec 13.

Neurology, Hospital Civil De Guadalajara "Fray Antonio Alcalde", Guadalajara, MEX.

Septo-optic dysplasia plus is a rare congenital syndrome characterized by the classic triad of optic nerve hypoplasia, hypothalamic-hypophyseal dysfunction, and midline abnormalities, with associated malformations of cortical development. Clinical manifestations include optic nerve disease, epilepsy, intellectual delay, and endocrine dysfunction. We present the case of an 18-year-old man with a history of seizures, growth hormone deficiency, and optic nerve disease that was diagnosed with septo-optic dysplasia plus syndrome with characteristic imaging findings. Read More

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http://dx.doi.org/10.7759/cureus.3727DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384050PMC
December 2018
2 Reads

Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome.

Mol Syndromol 2019 Jan 14;9(6):312-318. Epub 2018 Dec 14.

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

Array CGH has led to the delineation of innumerable microdeletion syndromes. We present a patient with a 7-Mb deletion at 5q11.2 with previously unreported features, such as immunodeficiency, asymmetry of hands and feet, joint laxity, and agenesis of corpus callosum. Read More

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http://dx.doi.org/10.1159/000494995DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381899PMC
January 2019

Imaging features of complete agenesis of corpus callosum in a 3-year-old child.

Sudan J Paediatr 2018 ;18(2):69-71

Department of Radiology, Subharti Medical College, Meerut, India.

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http://dx.doi.org/10.24911/SJP.106-1523336915DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378579PMC
January 2018

Rapidly growing, multifocal, benign choroid plexus tumor in an infant: case report.

J Neurosurg Pediatr 2019 Feb 22:1-6. Epub 2019 Feb 22.

2Beacon Children's Hospital, Beacon Medical Group North Central Neurosurgery, South Bend.

Choroid plexus papillomas (CPPs) are rare, benign tumors that can arise in young children. Most pediatric patients present with signs of hydrocephalus and require immediate treatment. The natural history of choroid plexus tumors in children without hydrocephalus is poorly defined. Read More

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http://dx.doi.org/10.3171/2018.12.PEDS18453DOI Listing
February 2019
11 Reads

Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development.

J Neurol 2019 May 22;266(5):1167-1181. Epub 2019 Feb 22.

Pediatric Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Via Gaslini 5, 16147, Genoa, Italy.

Objectives: To describe the neurological phenotype of children with prenatal diagnosis of agenesis of corpus callosum (ACC) and interhemispheric cysts associated with malformations of cortical development (MCD).

Methods: We reviewed the neuroimaging, neurologic, EEG, and genetic data of 36 patients (21 males, mean age 7 years) with ACC and interhemispheric cysts. Associations were tested with Chi-squared and Fisher exact tests. Read More

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http://dx.doi.org/10.1007/s00415-019-09247-7DOI Listing
May 2019
2 Reads

Underdevelopment of the Human Hippocampus in Callosal Agenesis: An In Vivo Fetal MRI Study.

AJNR Am J Neuroradiol 2019 Mar 21;40(3):576-581. Epub 2019 Feb 21.

From the Croatian Institute for Brain Research (V.K., A.Š., M.V.), School of Medicine, University of Zagreb, Zagreb, Croatia.

Background And Purpose: In subjects with agenesis of the corpus callosum, a variety of structural brain alterations is already present during prenatal life. Quantification of these alterations in fetuses with associated brain or body malformations (corpus callosum agenesis and other related anomalies) and so-called isolated cases may help to optimize the challenging prognostic prenatal assessment of fetuses with corpus callosum agenesis. This fetal MR imaging study aimed to identify differences in the size of the prenatal hippocampus between subjects with isolated corpus callosum agenesis, corpus callosum agenesis and other related anomalies, and healthy controls. Read More

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http://dx.doi.org/10.3174/ajnr.A5986DOI Listing
March 2019
1 Read

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

Pediatr Neurol 2019 May 24;94:64-69. 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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https://linkinghub.elsevier.com/retrieve/pii/S08878994183115
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.12.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450714PMC
May 2019
15 Reads

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), Paris, 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
1 Read

Prenatal detection of right aortic arch.

Arch Gynecol Obstet 2019 Apr 31;299(4):933-938. 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435603PMC
April 2019
2 Reads

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 Mar;35(3):575-576

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
March 2019
1 Read

The Neuropsychological Syndrome of Agenesis of the Corpus Callosum.

J Int Neuropsychol Soc 2019 Mar 29;25(3):324-330. 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
March 2019
1 Read

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
11 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 Mar 10;266(3):631-635. 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
March 2019
2 Reads

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

Eur J Hum Genet 2019 Apr 8;27(4):525-534. 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
April 2019
8 Reads

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

Fetal Pediatr Pathol 2019 Feb 26;38(1):63-71. 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
February 2019
2 Reads
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
11 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
3 Reads

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 2019 Mar 11;35(3):569-574. 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
March 2019
2 Reads

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
19 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 01 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
3 Reads

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 a neurological syndrome.

J Med Genet 2019 Mar 21;56(3):139-148. 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
March 2019
12 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
15 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
22 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
15 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
14 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6428593PMC
December 2018
4 Reads