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

No abstract available.
Corpus Callosum ; Hemorrhage ; Vasoconstriction

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

No abstract available.
Ammonium Compounds ; Corpus Callosum

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

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