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*

PURPOSE: Horizontal visual field defects are generally caused by lesions before the optic chiasm, but we report a case with bilateral inferior altitudinal defects secondary to bilateral occipital lobe infarction. CASE SUMMARY: A 57-year-old male with a history of diabetes and hypertension presented with a month of blurring in the inferior visual field. His corrected visual acuity was 1.0 in the right eye and 0.63 in the left eye, and the intraocular pressure was normal in each eye. Pupillary response, ocular movement, and color vision tests were normal in both eyes. There was no specific finding of the optic disc and macula on fundus examination. Visual field examination revealed an inferior congruous homonymous hemianopia with horizontal meridian sparing and a left incongruous homonymous quadrantanopia. Optical coherence tomography for peripapillary retinal nerve fiber layer thickness revealed a mild decrease in the inferior disc of both eyes. Brain magnetic resonance imaging confirmed the presence of an acute infarction confined with upper medial calcarine fissures of bilateral occipital lobe and the right splenium of the corpus callosum, which were consistent with inferior altitudinal hemianopia and left superior incongruous quadrantanopia, respectively. Brain magnetic resonance angiography showed multiple stenosis of bilateral posterior cerebral arteries. CONCLUSIONS: The altitudinal visual field defects could be caused by the occipital lesion medial to the calcarine fissure, and unusual visual defects could be due to a combination of multiple lesions.
Brain ; Color Vision ; Constriction, Pathologic ; Corpus Callosum ; Hemianopsia ; Humans ; Hypertension ; Infarction ; Infarction, Posterior Cerebral Artery ; Intraocular Pressure ; Magnetic Resonance Angiography ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Nerve Fibers ; Occipital Lobe ; Optic Chiasm ; Posterior Cerebral Artery ; Retinaldehyde ; Tomography, Optical Coherence ; Visual Acuity ; Visual Fields

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

OBJECTIVE: This study examined the efficacy of the white matter (WM) to gray matter (GM) signal intensity ratio (SIR) in predicting the clinical prognosis of cardiac arrest patients. METHODS: Thirty-one patients who were resuscitated from cardiac arrest and underwent brain magnetic resonance imaging (MRI) were investigated retrospectively. Thirty one subjects with normal brain MRI findings served as the controls. The signal intensities (SI) were measured on T2-weighted image (T2WI). The circular regions of measurement (2–10 mm²) were placed over the regions of interest, and the average signals in GM and WM were recorded in the caudate nucleus (CN), putamen, anterior limb of the internal capsule, corpus callosum (CC), and in the cortex and WM of the frontal lobe. Cerebral performance category (CPC) 1–2 were classified as a good prognosis, and CPC 3–5 were classified as a poor prognosis. RESULTS: Most combinations of the SIR of WM to GM and most SIs of GM, except the frontal cortex, were significantly different between the two groups. On the other hand, the SI of WM was insignificant between both groups. In receiver operating characteristic (ROC) curve analysis, the SIR of the CC to CN had an area under the ROC curve (AUROC) of 1.00 for a cut-off value of 1.59 (sensitivity, 100%; specificity, 100%), the SIR of the CC to putamen had also an AUROC of 1.00 for a cut-off value of 1.43 (sensitivity, 100%; specificity, 100%). CONCLUSION: The SIR of WM to GM measured on a T2WI is related to the neurological outcome after a cardiac arrest.
Brain ; Caudate Nucleus ; Coma ; Corpus Callosum ; Extremities ; Frontal Lobe ; Gray Matter ; Hand ; Heart Arrest ; Humans ; Internal Capsule ; Magnetic Resonance Imaging ; Prognosis ; Putamen ; Retrospective Studies ; ROC Curve ; Sensitivity and Specificity ; 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

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: We utilized diffusion tensor imaging (DTI) to evaluate the cerebral white matter changes that are associated with phantom limb pain in patients with unilateral arm amputation. It was anticipated that this would complement previous research in which we had shown that changes in cerebral blood volume were associated with the cerebral pain network. METHODS: Ten patients with phantom limb pain due to unilateral arm amputation and sixteen healthy age-matched controls were enrolled. The intensity of phantom limb pain was measured by the visual analogue scale (VAS) and depressive mood was assessed by the Hamilton depression rating scale. Diffusion tensor-derived parameters, including fractional anisotropy, mean diffusivity, axial diffusivity (AD), and radial diffusivity (RD), were computed from the DTI. RESULTS: Compared with controls, the cases had alterations in the cerebral white matter as a consequence of phantom limb pain, manifesting a higher AD of white matter in both hemispheres symmetrically after adjusting for individual depressive moods. In addition, there were associations between the RD of white matter and VAS scores primarily in the hemispheres related to the missing hand and in the corpus callosum. CONCLUSIONS: The phantom limb pain after unilateral arm amputation induced plasticity in the white matter. We conclude that loss of white matter integrity, particularly in the hemisphere connected with the missing hand, is significantly correlated with phantom limb pain.
Amputation ; Anisotropy ; Arm ; Blood Volume ; Brain ; Chronic Pain ; Complement System Proteins ; Corpus Callosum ; Depression ; Diffusion ; Diffusion Tensor Imaging ; Hand ; Humans ; Magnetic Resonance Imaging ; Neuronal Plasticity ; Phantom Limb ; Plastics ; White Matter

PURPOSE: The purpose of this study was to determine the relation between quantitative magnetic resonance imaging biomarkers, and clinical performances in chronic phase of carbon monoxide intoxication. MATERIALS AND METHODS: Eighteen magnetic resonance scans and cognitive evaluations were performed, on patients with carbon monoxide intoxication in chronic phase. Apparent diffusion coefficient (ADC) ratios of affected versus unaffected centrum semiovale, and corpus callosum were obtained. Signal intensity (SI) ratios between affected centrum semiovale, and normal pons in T2-FLAIR (fluid-attenuated inversion recovery) images were obtained. The Mini-Mental State Exam, and clinical outcome scores were assessed. Correlation coefficients were calculated, between MRI and clinical markers. Patients were further classified into poor-outcome and good-outcome groups based on clinical performance, and imaging parameters were compared. T2-SI ratio of centrum semiovale was compared, with that of 18 sex-matched and age-matched controls. RESULTS: T2-SI ratio of centrum semiovale was significantly higher in the poor-outcome group, than that in the good-outcome group and was strongly inversely correlated, with results from the Mini-Mental State Exam. ADC ratios of centrum semiovale were significantly lower in the poor outcome group than in the good outcome group, and were moderately correlated with the Mini-Mental State Exam score. CONCLUSION: A higher T2-SI and a lower ratio of ADC values in the centrum semiovale, may indicate presence of more severe white matter injury and clinical impairment. T2-SI ratio and ADC values in the centrum semiovale, are useful quantitative imaging biomarkers for correlation with clinical performance in individuals with carbon monoxide intoxication.
Biomarkers ; Carbon Monoxide Poisoning ; Carbon Monoxide ; Carbon ; Corpus Callosum ; Diffusion ; Humans ; Magnetic Resonance Imaging ; Pons ; White Matter