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NeuroImage. Clinical 2021Infants born preterm are at increased risk of neurological complications resulting in significant morbidity and mortality. The exact mechanism and the impact of...
BACKGROUND
Infants born preterm are at increased risk of neurological complications resulting in significant morbidity and mortality. The exact mechanism and the impact of antenatal factors has not been fully elucidated, although antenatal infection/inflammation has been implicated in both the aetiology of preterm birth and subsequent neurological sequelae. It is therefore hypothesized that processes driving preterm birth are affecting brain development in utero. This study aims to compare MRI derived regional brain volumes in fetuses that deliver < 32 weeks with fetuses that subsequently deliver at term.
METHODS
Women at high risk of preterm birth, with gestation 19.4-32 weeks were recruited prospectively. A control group was obtained from existing study datasets. Fetal MRI was performed on a 1.5 T or 3 T MRI scanner: T2-weighted images were obtained of the fetal brain. 3D brain volumetric datsets were produced using slice to volume reconstruction and regional segmentations were produced using multi-atlas approaches for supratentorial brain tissue, lateral ventricles, cerebellum cerebral cortex and extra-cerebrospinal fluid (eCSF). Statistical comparison of control and high-risk for preterm delivery fetuses was performed by creating normal ranges for each parameter from the control datasets and then calculating gestation adjusted z scores. Groups were compared using t-tests.
RESULTS
Fetal image datasets from 24 pregnancies with delivery < 32 weeks and 87 control pregnancies that delivered > 37 weeks were included. Median gestation at MRI of the preterm group was 26.8 weeks (range 19.4-31.4) and control group 26.2 weeks (range 21.7-31.9). No difference was found in supra-tentorial brain volume, ventricular volume or cerebellar volume but the eCSF and cerebral cortex volumes were smaller in fetuses that delivered preterm (p < 0.001 in both cases).
CONCLUSION
Fetuses that deliver preterm have a reduction in cortical and eCSF volumes. This is a novel finding and needs further investigation. If alterations in brain development are commencing antenatally in fetuses that subsequently deliver preterm, this may present a window for in utero therapy in the future.
Topics: Brain; Female; Fetus; Gestational Age; Humans; Infant; Infant, Extremely Premature; Infant, Newborn; Magnetic Resonance Imaging; Pilot Projects; Pregnancy; Premature Birth
PubMed: 33838546
DOI: 10.1016/j.nicl.2021.102650 -
European Journal of Internal Medicine Oct 2020For nonneoplastic neurological diseases, no recommendation exists regarding the place or appropriate timing of brain biopsy. The aim of this study was to evaluate the...
BACKGROUND
For nonneoplastic neurological diseases, no recommendation exists regarding the place or appropriate timing of brain biopsy. The aim of this study was to evaluate the diagnostic yield and safety of brain biopsies from patients with neurological diseases of unknown etiology.
METHODS
We performed a retrospective cohort study from January 1, 2008 to December 31, 2018. We analyzed 1847 brain-biopsied patients, including 178 biopsies indicated for neurological diseases of unknown etiology. Specific histological and final diagnosis rates, positive diagnosis-associated factors, complication rate and complication-associated factors were assessed.
RESULTS
Specific histological diagnosis and final diagnosis rates were 71.3% and 83.1%, respectively, leading to therapeutic management change(s) for 75.3% of patients. Brain- biopsy-related mortality and permanent neurological morbidity occurred in 1.1% and 0.6% of the patients, respectively. The multivariable logistic-regression model retained (odds ratio [95% CI] only immunodepression (2.2 [1.1-4.7]; P=.04) as being independently associated with specific histological diagnosis, while supratentorial biopsy-targeted lesions (4.1 [1.1-15.2]; P=.04) were independently associated with a final diagnosis. Biopsies obtained from comatose patients were less contributive to the diagnosis (0.2 [0.05-0.7]; P=.01). Prebiopsy platelet count <100 G/L (28.5 [1.8-447]; P=.02), hydrocephalus (6.3 [1.2-15.3]; P=.02) and targeted lesions <1 cm (4.3 [1.2-15.3]; P=.03) were independently associated with brain biopsy-related complications.
CONCLUSION
For highly selected patients with neurological diseases of unknown etiology, brain biopsy has a high diagnostic yield and low frequency of severe complications. We advocate that this procedure be considered early in the diagnosis algorithm of these patients.
Topics: Biopsy; Brain; Humans; Odds Ratio; Retrospective Studies
PubMed: 32654880
DOI: 10.1016/j.ejim.2020.05.029 -
AJNR. American Journal of Neuroradiology Apr 2022Single intrauterine fetal death increases the risk of antenatal brain lesions in the surviving twin. We evaluated the prevalence of structural brain lesions, biometry,...
BACKGROUND AND PURPOSE
Single intrauterine fetal death increases the risk of antenatal brain lesions in the surviving twin. We evaluated the prevalence of structural brain lesions, biometry, and diffusivity on routine third trimester MR imaging performed following single intrauterine fetal death.
MATERIALS AND METHODS
In a retrospective MR imaging-based cohort study, we compared 29 monochorionic twins complicated with single intrauterine fetal death (14 following laser ablation treatment for twin-to-twin transfusion syndrome, 8 following selective fetal reduction, and 7 spontaneous) with 2 control cohorts (49 singleton fetuses and 28 uncomplicated twin fetuses). All fetuses in the single intrauterine fetal death group underwent fetal brain MR imaging as a routine third trimester evaluation. Structural brain lesions were analyzed. Cerebral biometry and diffusivity were measured and compared.
RESULTS
Brain lesions consistent with the evolution of prior ischemic injury were found in 1 of 29 fetuses, not detected by ultrasound. No acute brain infarction, hemorrhage, or cortical abnormalities were found. Supratentorial biometric measurements in the single intrauterine fetal death group were significantly smaller than those in the singleton group, but not significantly different from those in the uncomplicated twin group. There were no significant differences in ADC values of the cerebral hemispheres, basal ganglia, and pons between the single intrauterine fetal death group and either control group.
CONCLUSIONS
Although smaller brain biometry was found, normal diffusivity in surviving twins suggests normal parenchymal microstructure. The rate of cerebral structural injury was relatively low in our cohort, arguing against the routine use of fetal brain MR imaging in twin pregnancies complicated with single intrauterine fetal death. Larger prospective studies are necessary to guide appropriate surveillance protocol and parental counseling in twin pregnancies complicated by single intrauterine fetal death.
Topics: Brain; Brain Injuries; Cohort Studies; Female; Fetal Death; Fetofetal Transfusion; Humans; Magnetic Resonance Imaging; Neuroimaging; Pregnancy; Pregnancy Trimester, Third; Pregnancy, Twin; Prospective Studies; Retrospective Studies; Twins, Monozygotic; Ultrasonography, Prenatal
PubMed: 35332016
DOI: 10.3174/ajnr.A7475 -
Journal of Cardiothoracic Surgery May 2020Paragangliomas are rare endocrine tumors that arise from the extra-adrenal autonomic paraganglia and sympathetic paragangliomas usually secret catecholamines and are...
INTRODUCTION
Paragangliomas are rare endocrine tumors that arise from the extra-adrenal autonomic paraganglia and sympathetic paragangliomas usually secret catecholamines and are located in the sympathetic paravertebral ganglia of thorax, abdomen, and pelvis. In contrast, most parasympathetic paragangliomas are nonfunctional and located along the glossopharyngeal and vagal nerves in the neck and at the base of the skull. Such neoplasms, although rare, are clinically important because they may recur after surgical resection and 10% of them give rise to metastases causing death with the lymphatic nodes, bones, liver, and lungs being the most common locations.
CASE PRESENTATION
We present a case of a 26-year-old male patient that was diagnosed with paraganglioma of the right-frontal lobe infiltrating the falx and frontal bone which was diagnosed after suffering from a headache and abnormal vision. On initial work-up he was found to have right pulmonary nodules that increased in size after follow up and other nodules appeared in the contralateral lung. He underwent subtotal resection of the brain tumor and complete resection of the bilateral pulmonary nodules.
CONCLUSION
To our knowledge, paraganglioma is considered to be a rare entity in the central nervous system with very few cases being reported in the supratentorial region and no cases were reported of metastatic such paraganglioma to the lung.
Topics: Adult; Brain; Humans; Lung Neoplasms; Magnetic Resonance Imaging; Male; Multiple Pulmonary Nodules; Neoplasm Metastasis; Neoplasm Recurrence, Local; Paraganglioma; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 32393294
DOI: 10.1186/s13019-020-01113-2 -
Orphanet Journal of Rare Diseases Jul 2016Pontocerebellar hypoplasia type 2 (PCH2) is caused by a defect in the TSEN54-gene and leads to severe and early disruption of brain development, especially of cerebellum...
BACKGROUND
Pontocerebellar hypoplasia type 2 (PCH2) is caused by a defect in the TSEN54-gene and leads to severe and early disruption of brain development, especially of cerebellum and pons. The aim of this work was to quantify the infra- and supratentorial brain growth during postnatal brain development in children with PCH2.
METHODS
MRI data of 24 children with PCH2 (age 0.02-17 years., 13 females) were analysed volumetrically and compared to images of 24 typically developing age- and gender-matched children. All children with PCH2 had the homozygous p.A307S mutation in the TSEN54-gene. In 5 patients follow-up MRI investigations were available. Images of the children with PCH2 were available either on film (n = 12) or in digital format (n = 21). Images on film were digitalized. Brain structures were manually masked and further adjusted semi-automatically using intensity thresholding to exclude CSF. Volumes of cerebellum, brain stem, and pons were measured, as well as supratentorial brain and frontal lobe volume. For validation of the method part of the digital images were processed as images on film. In addition, intra- and inter-rater variabilities were tested.
RESULTS
Children with PCH2 showed reduced volumes of all measured brain structures compared to healthy controls. Severely hypoplastic cerebellum, pons and brain stem only slightly increased in size postnatally. Supratentorial brain volume also showed reduced growth compared to the healthy controls. Differences between patients and controls could already be seen at birth but became more significant during childhood. Validation of the method showed high precision and reproducibility.
CONCLUSIONS
In a genetically very homogenous group of children with PCH2 severely hypoplastic infratentorial structures, the hallmark of the disease, showed only slight increase in volume postnatally. Supratentorial brain structures, which are considered normal at birth, also showed smaller volumes neonatally and a lower growth rate compared to controls, leading to severe microcephaly. Volume loss, however, could not be observed during the first years of life. This argues for a severe disruption of the cerebellar-cerebral networks during pre- and postnatal development caused by a primary cerebellar dysfunction, rather than postnatal neurodegeneration. The developmental progress in these children, although little, further supports this.
Topics: Adolescent; Brain; Brain Stem; Case-Control Studies; Cerebellum; Child; Child, Preschool; Female; Frontal Lobe; Humans; Infant; Infant, Newborn; Intellectual Disability; Magnetic Resonance Imaging; Male; Microcephaly; Olivopontocerebellar Atrophies; Pons
PubMed: 27430971
DOI: 10.1186/s13023-016-0481-4 -
Behavioral and Brain Functions : BBF Apr 2022The cerebellum's anatomical and functional organization and network interactions between the cerebellum and the cerebral cortex and subcortical structures are dynamic... (Review)
Review
The cerebellum's anatomical and functional organization and network interactions between the cerebellum and the cerebral cortex and subcortical structures are dynamic across the lifespan. Executive, emotional and social (EES) functions have likewise evolved during human development from contributing to primitive behaviors during infancy and childhood to being able to modulate complex actions in adults. In this review, we address how the importance of the cerebellum in the processing of EES functions might change across development. This evolution is driven by the macroscopic and microscopic modifications of the cerebellum that are occurring during development including its increasing connectivity with distant supra-tentorial cortical and sub-cortical regions. As a result of anatomical and functional changes, neuroimaging and clinical data indicate that the importance of the role of the cerebellum in human EES-related networks shifts from being crucial in newborns and young children to being only supportive later in life. In early life, given the immaturity of cortically mediated EES functions, EES functions and motor control and perception are more closely interrelated. At that time, the cerebellum due to its important role in motor control and sequencing makes EES functions more reliant on these computational properties that compute spatial distance, motor intent, and assist in the execution of sequences of behavior related to their developing EES expression. As the cortical brain matures, EES functions and decisions become less dependent upon these aspects of motor behavior and more dependent upon high-order cognitive and social conceptual processes. At that time, the cerebellum assumes a supportive role in these EES-related behaviors by computing their motor and sequential features. We suspect that this evolving role of the cerebellum has complicated the interpretation of its contribution to EES computational demands.
Topics: Adult; Brain; Cerebellum; Cerebral Cortex; Child; Child, Preschool; Emotions; Humans; Infant, Newborn; Longevity
PubMed: 35484543
DOI: 10.1186/s12993-022-00193-5 -
American Journal of Obstetrics and... Aug 2022Congenital heart disease is associated with an increased risk of smaller brain volumes and structural brain damage, and impaired growth of supratentorial brain...
BACKGROUND
Congenital heart disease is associated with an increased risk of smaller brain volumes and structural brain damage, and impaired growth of supratentorial brain structures in utero has been linked to poor neurodevelopmental outcomes. However, little is known on brainstem and cerebellar volumes in fetuses with congenital heart disease. Moreover, it is not clear whether impaired infratentorial growth, if present, is associated with only certain types of fetal cardiac defects or with supratentorial brain growth, and whether altered biometry is already present before the third trimester.
OBJECTIVE
This study aimed to investigate brainstem and cerebellar volumes in fetuses with congenital heart disease and to compare them to infratentorial brain volumes in fetuses with normal hearts. Secondarily, the study aimed to identify associations between infratentorial brain biometry and the type of cardiac defects, supratentorial brain volumes, and gestational age.
STUDY DESIGN
In this retrospective case-control study, 141 magnetic resonance imaging studies of 135 fetuses with congenital heart disease and 141 magnetic resonance imaging studies of 125 controls with normal hearts at 20 to 37 gestational weeks (median, 25 weeks) were evaluated. All cases and controls had normal birthweight and no evidence of structural brain disease or genetic syndrome. Six types of congenital heart disease were included: tetralogy of Fallot (n=32); double-outlet right ventricle (n=22); transposition of the great arteries (n=27); aortic obstruction (n=24); hypoplastic left heart syndrome (n=22); and hypoplastic right heart syndrome (n=14). First, brainstem and cerebellar volumes of each fetus were segmented and compared between cases and controls. In addition, transverse cerebellar diameters, vermian areas, and supratentorial brain and cerebrospinal fluid volumes were quantified and differences assessed between cases and controls. Volumetric differences were further analyzed according to types of cardiac defects and supratentorial brain volumes. Finally, volume ratios were created for each brain structure ([volume in fetus with congenital heart disease/respective volume in control fetus] × 100) and correlated to gestational age.
RESULTS
Brainstem (cases, 2.1 cm vs controls, 2.4 cm; P<.001) and cerebellar (cases, 3.2 cm vs controls, 3.4 cm; P<.001) volumes were smaller in fetuses with congenital heart disease than in controls, whereas transverse cerebellar diameters (P=.681) and vermian areas (P=.947) did not differ between groups. Brainstem and cerebellar volumes differed between types of cardiac defects. Overall, the volume ratio of cases to controls was 80.8% for the brainstem, 90.5% for the cerebellum, and 90.1% for the supratentorial brain. Fetuses with tetralogy of Fallot and transposition of the great arteries were most severely affected by total brain volume reduction. Gestational age had no effect on volume ratios.
CONCLUSION
The volume of the infratentorial brain, which contains structures considered crucial to brain function, is significantly smaller in fetuses with congenital heart disease than in controls from midgestation onward. These findings suggest that impaired growth of both supra- and infratentorial brain structures in fetuses with congenital heart disease occurs in the second trimester. Further research is needed to elucidate associations between fetal brain volumes and neurodevelopmental outcomes in congenital heart disease.
Topics: Brain; Brain Stem; Case-Control Studies; Cerebellum; Female; Fetus; Gestational Age; Heart Defects, Congenital; Humans; Magnetic Resonance Imaging; Pregnancy; Retrospective Studies; Tetralogy of Fallot; Transposition of Great Vessels
PubMed: 35305961
DOI: 10.1016/j.ajog.2022.03.030 -
NeuroImage. Clinical 2022Crossed cerebellar diaschisis (CCD) has been widely investigated in patients with supratentorial hypometabolism, however, the available evidence about the metabolic...
Crossed cerebellar diaschisis (CCD) has been widely investigated in patients with supratentorial hypometabolism, however, the available evidence about the metabolic feature of CCD in patients with contralateral supratentorial hypermetabolism is lacking. This study aimed to assess the metabolic asymmetrical profile, network pattern and predisposing factors for the hypermetabolism-associated CCD, by using voxel-based asymmetry index (AI) and brain network analyses. Seventy CCD positive (CCD+) and 99 CCD negative (CCD-) patients with unilateral supratentorial hypermetabolism were introduced. Among different brain regions with AI or AI, striatum & thalamus was accompanied by the highest positive rate of CCD (85.7% or 70.1%, respectively). CCD+ group had significantly greater AI (median [IQR], 0.62 [0.44-0.84] vs. 0.47 [0.35-0.61]), supratentorial hypermetabolic volume (1183.5 [399.3-3026.8] vs. 386.0 [152.0-1193.0]) and hypometabolic volume (37796.5 [24741.8-53278.0] vs. 3337.0 [1020.0-17193.0]), and lower AI (-0.85 [-1.05--0.73] vs. -0.49 [-0.68--0.35]) compared with CCD- group (all P < 0.001). Logistic regression analysis manifested that patients with AI located at striatum & thalamus were 16.4 times more likely to present CCD than those at frontal lobe (OR = 16.393; 95% CI, 4.463-60.207; P < 0.001), and the occurrence of CCD was also associated with AI (OR = 49.594; 95% CI, 5.519-445.653; P < 0.001) and AI (OR = 3.133 × 10, 95% CI, 1.693 × 10-5.799 × 10, P < 0.001). Brain network analysis indicated that the relative hypermetabolism in the contralateral supplementary motor cortex (SMC) and precuneus gyrus were constant in the CCD related patterns. These results demonstrated that the greater AI, lower AI and AI located at striatum & thalamus should be predisposing factors for CCD in patients with unilateral supratentorial hypermetabolism. Relative increased activities in the contralateral SMC and precuneus gyrus might be attributed to a compensatory mechanism for the abnormal brain network related to CCD.
Topics: Brain; Cerebellar Diseases; Cerebellum; Cerebrovascular Circulation; Diaschisis; Frontal Lobe; Humans; Thalamus
PubMed: 35597028
DOI: 10.1016/j.nicl.2022.103032 -
Orphanet Journal of Rare Diseases Feb 2013Alström Syndrome (AS) is a rare ciliopathy characterized by cone-rod retinal dystrophy, sensorineural hearing loss, obesity, type 2 diabetes mellitus and...
BACKGROUND
Alström Syndrome (AS) is a rare ciliopathy characterized by cone-rod retinal dystrophy, sensorineural hearing loss, obesity, type 2 diabetes mellitus and cardiomyopathy. Most patients do not present with neurological issues and demonstrate normal intelligence, although delayed psychomotor development and psychiatric disorders have been reported. To date, brain Magnetic Resonance Imaging (MRI) abnormalities in AS have not been explored.
METHODS
We investigated structural brain changes in 12 genetically proven AS patients (mean-age 22 years; range: 6-45, 6 females) and 19 matched healthy and positive controls (mean-age 23 years; range: 6-43; 12 females) using conventional MRI, Voxel-Based Morphometry (VBM) and Diffusion Tensor Imaging (DTI).
RESULTS
6/12 AS patients presented with brain abnormalities such as ventricular enlargement (4/12), periventricular white matter abnormalities (3/12) and lacune-like lesions (1/12); all patients older than 30 years had vascular-like lesions. VBM detected grey and white matter volume reduction in AS patients, especially in the posterior regions. DTI revealed significant fractional anisotropy decrease and radial diffusivity increase in the supratentorial white matter, also diffusely involving those regions that appeared normal on conventional imaging. On the contrary, axial and mean diffusivity did not differ from controls except in the fornix.
CONCLUSIONS
Brain involvement in Alström syndrome is not uncommon. Early vascular-like lesions, gray and white matter atrophy, mostly involving the posterior regions, and diffuse supratentorial white matter derangement suggest a role of cilia in endothelial cell and oligodendrocyte function.
Topics: Adolescent; Adult; Aged; Alstrom Syndrome; Brain; Child; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Young Adult
PubMed: 23406482
DOI: 10.1186/1750-1172-8-24 -
Contrast Media & Molecular Imaging 2022Tumors in the pineal region are deep, with complex surrounding anatomy, adjacent to important blood vessels and nerve structures, and surgical resection is difficult and... (Review)
Review
Tumors in the pineal region are deep, with complex surrounding anatomy, adjacent to important blood vessels and nerve structures, and surgical resection is difficult and risky. In this paper, we reviewed the literature to understand the epidemiology and clinical manifestations of pineal region tumors in the country and study the clinical indications, related problems, and successful experiences of patients with pineal region tumors treated by the transtentorial-superior approach. The clinical data of 80 patients with pineal region tumors were selected as the retrospective research objects and divided into the control group and the treatment group, with 40 cases in each group, according to the random number table method. The control group was treated using the endoscopic transtentorial approach (Poppen approach), while the treatment group was treated with the endoscopic supratentorial approach (Krause approach). The inflammatory factors, inflammatory stress response, postoperative neurological dysfunction, clinical efficacy, and poor prognosis were observed and compared between the two groups. Tumor resection and recurrence were used to compare the clinical outcomes of tumors in the pineal region. The extent of surgical resection was 100% higher in both groups, and the treatment group was comparable to the control group. The prognosis of patients after the operation was poor. Nausea and vomiting, visual disturbance, upper vision paralysis, and ataxia in the treatment group were significantly lower than those in the control group, with no statistical significance ( > 0.05). At the same time, the bone window can be reduced to reduce trauma and provide a certain reference for patients to choose a safe and complete resection method.
Topics: Brain Neoplasms; Case-Control Studies; Cerebellum; Humans; Pineal Gland; Pinealoma; Retrospective Studies; Treatment Outcome
PubMed: 36017015
DOI: 10.1155/2022/5702309