OBJECTIVE: To explore the genetic etiology of Vici syndrome in a Chinese family. METHODS: Whole exome sequencing (WES) technology was used to detect gene variants in a fetus of abnormal ultrasonic structure without abnormalities in routine chromosome karyotype analysis and SNP-array. Sanger sequencing and bioinformatics prediction were performed for the suspected variants of the fetus and parents. RESULTS: The fetus and the elder sister have carried c. 2427delC (p.T809fs) and c.1886A>T (p.E629V) compound heterozygous variants of the EPG5 gene, which were respectively inherited from their mother and father. Neither variant was reported previously. According to ACMG guidelines, the c.2427delC variant was predicted as pathogenic, while the c.1886A>T variant was of uncertain significance. PolyPhen-2 and PROVEAN software indicated that c.1886A>T variant was probably damaging. CONCLUSION The c.2427delC and c.1886A>T variants of the EPG5 gene probably underlie the pathogenesis of the Vici syndrome in this family. Above finding has enriched the variational spectrum of EPG5 gene and provided a basis for genetic counseling and prenatal diagnosis for the family.
Aged ; Agenesis of Corpus Callosum ; Autophagy-Related Proteins ; Cataract ; Female ; Humans ; Mutation ; Pregnancy ; Vesicular Transport Proteins/genetics* ; Whole Exome Sequencing

This study aimed to define the most consistent white matter microarchitecture pattern in Parkinson's disease (PD) reflected by fractional anisotropy (FA), addressing clinical profiles and methodology-related heterogeneity. Web-based publication databases were searched to conduct a meta-analysis of whole-brain diffusion tensor imaging studies comparing PD with healthy controls (HC) using the anisotropic effect size-signed differential mapping. A total of 808 patients with PD and 760 HC coming from 27 databases were finally included. Subgroup analyses were conducted considering heterogeneity with respect to medication status, disease stage, analysis methods, and the number of diffusion directions in acquisition. Compared with HC, patients with PD had decreased FA in the left middle cerebellar peduncle, corpus callosum (CC), left inferior fronto-occipital fasciculus, and right inferior longitudinal fasciculus. Most of the main results remained unchanged in subgroup meta-analyses of medicated patients, early stage patients, voxel-based analysis, and acquisition with 30 diffusion directions. The subgroup meta-analysis of medication-free patients showed FA decrease in the right olfactory cortex. The cerebellum and CC, associated with typical motor impairment, showed the most consistent FA decreases in PD. Medication status, analysis approaches, and the number of diffusion directions have an important impact on the findings, needing careful evaluation in future meta-analyses.
Anisotropy ; Brain/diagnostic imaging* ; Corpus Callosum ; Diffusion Tensor Imaging ; Humans ; Parkinson Disease/diagnostic imaging* ; White Matter/diagnostic imaging*

The magnetic resonance imaging findings of multicystic encephalomalacia are featured by bilateral frontal large cystic lesion with corpus callosum involvement,evident heterogeneous enhancement of the lesion margin,ring hyperintensity on diffusion weighted imaging,and high choline peak and low N-acetylaspartate peak of the enhanced lesion margin on magnetic resonance spectroscopy.This article reports a case of multicystic encephalomalacia.
Corpus Callosum ; Encephalomalacia ; Humans ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy

BACKGROUND: Patients with persistent vegetative state (PVS) show no evidence of awareness of self or their environment, and those with minimally conscious state (MCS) have severely impaired consciousness with minimal but definite behavioral evidence of self or environmental awareness after stroke. Neuroimaging and clinical characteristics separating these two close consciousness states after stroke were insufficiently studied. METHODS: We conducted a hospital-based cohort study of all patients with stroke (2011 to 2017) who underwent 3T magnetic resonance imaging and consciousness assessment after 3 months of inclusion. Univariate and multivariate regression analyses were used to estimate the relative risk of neuroimaging markers for differentiation of PVS and MCS. RESULTS: Of 3,600 eligible subjects, 323 patients (0.09%) had PVS and 93 (0.02%) had MCS (mean age, 62.25±13.4 years). Higher stroke volume was strongly associated with PVS compared to MCS (odds ratio [OR], 0.99; 95% confidence interval [CI], 0.98 to 1.00; P=0.001). On univariate analysis, cingulate gyrus (OR, 2.7; 95% CI, 1.62 to 4.36; P=0.001) and corpus callosum (OR, 2.1; 95% CI, 1.28 to 3.44; P=0.003) involvement was significantly associated with PVS. However, on multivariate analysis, only cingulate gyrus involvement was independently associated with PVS (OR, 2.2; 95% CI, 1.33 to 3.72; P=0.002). CONCLUSION: Our results indicate that PVS and MCS are different consciousness states according to clinical and neuroimaging findings. To predict outcome, cognitive performance of these patients should be well questioned after stroke.
Cognition Disorders ; Cohort Studies ; Consciousness ; Corpus Callosum ; Gyrus Cinguli ; Humans ; Magnetic Resonance Imaging ; Multivariate Analysis ; Neuroimaging ; Persistent Vegetative State ; Stroke Volume ; Stroke

No abstract available.
Corpus Callosum ; Hemorrhage ; Vasoconstriction

No abstract available.
Cerebral Infarction ; Corpus Callosum ; Endocarditis ; Humans ; Infarction

No abstract available.
Ammonium Compounds ; Corpus Callosum

Crossed aphasia (CA) is defined as language impairment following right-hemispheric brain lesion in right-handed person. Exact mechanism responsible for CA is ambiguous, and recently several brain lesions have been proposed to be associated with aphasia using lesion mapping method. Corpus callosum has dual bloody supply which makes it less vulnerable to infarction. Speech difficulties such as stuttering after corpus callosum infarction have been reported in the past, but aphasia is rare, which makes CA more unique. We report an extraordinary case of CA after right corpus callosum infarction. A 74-year-old female patient with a previous history of right thalamus infarction with no neurologic sequela has developed language disturbance without apraxia 1 month ago and a diffusion-weighted magnetic resonance imaging showed newly developed infarction at right corpus callosum. The aphasia quotient of the Korean version of the Western Aphasia Battery was 2.5, implying severe global aphasia. Positron emission tomography-computed tomography showed decreased metabolism in right corpus callosum and left frontal and temporal cortex, suggesting that interhemispheric diaschisis may be responsible for the CA. This is an extraordinary case report of an isolated manifestation of CA secondary to right corpus callosum infarction.
Aged ; Aphasia ; Apraxias ; Brain ; Brain Infarction ; Corpus Callosum ; Electrons ; Female ; Humans ; Infarction ; Magnetic Resonance Imaging ; Metabolism ; Methods ; Stuttering ; Temporal Lobe ; Thalamus

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a progressive degenerative white matter disorder caused by mutations in the tyrosine kinase domain of the CSF1R gene. ALSP is often misdiagnosed as other diseases due to its rarity and various clinical presentations such as Parkinsonism, pyramidal signs, cognitive impairment and/or psychiatric symptoms. We describe an autopsy case of ALSP with a CSF1R mutation. A 61-year-old woman presented insidious-onset gait difficulty for 12 years since her age of 49, and premature ovarian failure since her age of 35. At initial hospital visit, brain magnetic resonance imaging revealed hydrocephalus. Initially, Parkinson's syndrome was diagnosed, and she was prescribed L-dopa/carbidopa because of spasticity and rigidity of extremities, which had worsened. Subsequently, severe neuropsychiatric symptoms and cognitive impairment developed and radiologically, features of leukoencephalopathy or leukodystrophy were detected. She showed a down-hill course and died, 12 years after initial diagnosis. At autopsy, the brain showed severe symmetric atrophy of bilateral white matter, paper-thin corpus callosum, thin internal capsule, and marked hydrocephalus. Microscopically, diffuse loss of white matter, relatively preserved subcortical U-fibers, and many eosinophilic bulbous neuroaxonal spheroids were noted, but there was no calcification. Pigmented glia with brown cytoplasmic pigmentation were readily found in the white matter, which were positive for Periodic acid-Schiff, p62, and CD163 stains, but almost negative for CD68. Whole-exome and Sanger sequencing revealed a CSF1R mutation (c.2539G>A, p.Glu847Lys) which was reported in prior one ALSP case. This example demonstrates that ALSP could be associated with premature ovarian failure.
Atrophy ; Autopsy ; Axons ; Brain ; Cognition Disorders ; Coloring Agents ; Corpus Callosum ; Cytoplasm ; Diagnosis ; Eosinophils ; Extremities ; Female ; Gait ; Humans ; Hydrocephalus ; Internal Capsule ; Leukoencephalopathies ; Magnetic Resonance Imaging ; Middle Aged ; Muscle Spasticity ; Neuroglia ; Parkinsonian Disorders ; Pigmentation ; Primary Ovarian Insufficiency ; Protein-Tyrosine Kinases ; White Matter

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. The patient was a full-term male with trisomy 21, agenesis of corpus callosum, ventricular septal defect, patent ductus arteriosus, right-sided aortic arch, and congenital absence of sternum with no sternal bars. Following removal of the infected synthetic mesh, negative pressure wound therapy with instillation was used to manage the open wound and provide direct antibiotic therapy. When blood C-reactive protein levels declined to ≤2 mg/L, the sternum was reconstructed using porcine acellular dermal matrix. At 21 months postoperative, the patient demonstrated no respiratory issues. Physical examination and computed tomography imaging identified good approximation of the clavicular heads and sternal cleft and forward curvature of the ribs. This case illustrates the benefits of negative pressure wound therapy and acellular dermal matrix for the reconstruction of absent sternum in the context of infected sternal surgical site previously repaired with synthetic mesh.
Acellular Dermis ; Agenesis of Corpus Callosum ; Aorta, Thoracic ; C-Reactive Protein ; Congenital Abnormalities ; Down Syndrome ; Ductus Arteriosus, Patent ; Early Intervention (Education) ; Head ; Heart Septal Defects, Ventricular ; Humans ; Infant ; Male ; Methods ; Negative-Pressure Wound Therapy ; Physical Examination ; Ribs ; Sternum ; Surgical Mesh ; Thoracic Surgery ; Wounds and Injuries