Cerebral Magnetic Resonance Research Articles

Deep sedation in lateral position for preterm infants during cerebral magnetic resonance imaging: a pilot study

IntroductionRespiratory adverse events are common during the sedation of preterm babies, often needing active airway support. During magnetic resonance imaging, this occurrence could extend the acquisition time, with a negative impact on the thermic and metabolic homeostasis. The aim of the study is to verify if lying in a lateral position instead of supine could improve the safe quality of sedation, without worsening the quality of imaging.MethodsThis study was performed as a single-center, prospective study at a university-affiliated tertiary care center. A consultant provided deep sedation with sevoflurane 3–4% delivered by an external mask, in the lateral decubitus position. All patients were evaluated for the incidence of apnea and desaturation, quality of imaging obtained, the timing of imaging acquisition, and thermic and metabolic homeostasis.ResultsWe enrolled 23 consecutive preterm babies born < 37 weeks gestational age, candidates for sedation for elective brain magnetic resonance imaging. All patients completed the radiological procedure in 30 min (SD ± 6.39 min) without complications requiring exam interruption. Only one patient (4%) experienced a transient desaturation, while 2 neonates (9%) showed apnea lasting > 20 s. On average, there was a 1 °C decrease in body temperature and full enteral feeding was resumed within 1.5 h. Neuroradiologists rated the quality of the images obtained as high.ConclusionsLateral lying seems to be a viable option for sedated preterm babies during magnetic resonance imaging with a low risk of intervention for apnea and a reduced impact on thermic and metabolic homeostasis. Quality of imaging would be preserved maintaining correct scheduling of standard care.Trial registrationThe study was registered at www.ClinicalTrials.gov before enrollment (NCT05776238 on December, 21th 2023).

Plesiomonas shigelloides infection in newborn: case report and literature review.

Plesiomonas shigelloides is a gram-negative bacillus causing foodborne infection due to contaminated seafood leading to gastroenteritis and dysentery. Instances of neonatal infection attributed to Plesiomonas shigelloides are exceedingly rare, and available literature is sparse, with only 15 reported cases to our knowledge. Central nervous system (CNS) involvement is reported, presenting severe meningoencephalitis in some cases. In this study, we report the case of a newborn with a clinical presentation of neonatal sepsis and central nervous system (CNS) involvement with meningoencephalitis caused by Plesiomonas shigelloides. Moreover, we review literature about this rare form of neonatal infection. During recovery, the baby underwent various laboratory tests and neurological diagnostic images (cerebral ultrasound, computer tomography and brain magnetic resonance), and received oxygen support, antibiotics, and anti-seizure treatment. Cerebral involvement in our patient was complicated by an extended abscess, cerebral arteritis, obstructive hydrocephalus, and a stroke which required multiple surgical interventions including drainage and a neurosurgical lobectomy. Gradual improvement in the general clinical condition of the child was observed, and he was discharged with a comprehensive follow-up program of clinical assessments, neurosurgical evaluations, neuroimaging monitoring, and physiotherapeutic care. We present a case of neonatal sepsis and neurological involvement caused by Plesiomonas shigelloides which resulted in a positive outcome despite severe neurological complications. This case contributes valuable additional data on the clinical course and radiological features of neonatal CNS involvement caused by this pathogen which is exceedingly rare and poorly described in the literature. This study also underscores the importance of targeted interventions and proposes specific recommendations for these unique cases.

Subtle signs of atrial cardiomyopathy and left ventricular diastolic dysfunction are associated with reduced cognitive function: results from the Hamburg City Health Study.

Atrial fibrillation is associated with cognitive dysfunction. Atrial cardiomyopathy has been correlated with both entities. We aimed to characterize the association of echocardiographic parameters of atrial cardiomyopathy with cognitive function and cerebral changes. Participants of the population-based Hamburg City Health Study underwent in-depth transthoracic echocardiography and cognitive function testing, the Animal Naming Test (ANT), the Trail Making Test A (TMT-A) and B (TMT-B), 10-word learning test and cerebral magnetic resonance imaging. After excluding individuals with stroke or depression, data from 7852 individuals were available. In multi-variable-adjusted regression analyses, the E/e'-ratio was associated with the level of impairment in the ANT (-0.19 per one standard deviation [SD] increase, 95% confidence interval [CI] -0.36-[-0.01]) and the TMT-A (0.01 per one SD increase, 95% CI 0.003-0.020). Left atrial global peak strain was associated with positive performance in the TMT-A and B (-0.01 per one SD increase [95% CI -0.02-(-0.002)] and -0.02 per one SD increase [95% CI -0.03-(-0.01)], respectively) and the immediate recall of the 10-word learning test (0.11 per one SD increase, 95% CI 0.02-0.20). The E/e'-ratio was positively associated with the total and periventricular white matter hyperintensity load in age- and sex-adjusted regression analyses though statistical significance was lost after multi-variable adjustment. Subclinical echocardiographic signs of atrial cardiomyopathy and left ventricular diastolic dysfunction are associated with impaired performance in cognitive tests in the population. Our data provide evidence of the clinically important cardio-cerebral axis, relating cardiac dysfunction with cognitive performance.

Plasma p-tau181 and GFAP reflect 7T MR-derived changes in Alzheimer's disease: A longitudinal study of structural and functional MRI and MRS.

Associations between longitudinal changes of plasma biomarkers and cerebral magnetic resonance (MR)-derived measurements in Alzheimer's disease (AD) remain unclear. In a study population (n=127) of healthy older adults and patients within the AD continuum, we examined associations between longitudinal plasma amyloid beta 42/40 ratio, tau phosphorylated at threonine 181 (p-tau181), glial fibrillary acidic protein (GFAP), neurofilament light chain (NfL), and 7T structural and functional MR imaging and spectroscopy using linear mixed models. Increases in both p-tau181 and GFAP showed the strongest associations to 7T MR-derived measurements, particularly with decreasing parietal cortical thickness, decreasing connectivity of the salience network, and increasing neuroinflammation as determined by MR spectroscopy (MRS) myo-inositol. Both plasma p-tau181 and GFAP appear to reflect disease progression, as indicated by 7T MR-derived brain changes which are not limited to areas known to be affected by tau pathology and neuroinflammation measured by MRS myo-inositol, respectively. This study leverages high-resolution 7T magnetic resonance (MR) imaging and MR spectroscopy (MRS) for Alzheimer's disease (AD) plasma biomarker insights. Tau phosphorylated at threonine 181 (p-tau181) and glial fibrillary acidic protein (GFAP) showed the largest changes over time, particularly in the AD group. p-tau181 and GFAP are robust in reflecting 7T MR-based changes in AD. The strongest associations were for frontal/parietal MR changes and MRS neuroinflammation.

Neurometabolic Profile in Obese Patients: A Cerebral Multi-Voxel Magnetic Resonance Spectroscopy Study.

Background and Objectives: Obesity-related chronic inflammation may lead to neuroinflammation and neurodegeneration. This study aimed to evaluate the neurometabolic profile of obese patients using cerebral multivoxel magnetic resonance spectroscopy (mvMRS) and assess correlations between brain metabolites and obesity markers, including body mass index (BMI), waist circumference, waist-hip ratio, body fat percentage, and indicators of metabolic syndrome (e.g., triglycerides, HDL cholesterol, fasting blood glucose, insulin, and insulin resistance index (HOMA-IR)). Materials and Methods: This prospective study involved 100 participants, stratified into two groups: 50 obese individuals (BMI ≥ 30 kg/m2) and 50 controls (18.5 ≤ BMI < 25 kg/m2). Anthropometric measurements, body fat percentage, and biochemical markers were evaluated. All subjects underwent long- and short-echo mvMRS analysis of the frontal and parietal supracallosal subcortical and deep white matter, as well as the cingulate gyrus, analyzing NAA/Cr, Cho/Cr, and mI/Cr ratios, along with absolute concentrations of NAA and Cho. Results: Obese participants exhibited significantly decreased NAA/Cr and Cho/Cr ratios in the deep white matter of the right cerebral hemisphere (p < 0.001), while absolute concentrations of NAA and Cho did not differ significantly between groups (p > 0.05). NAA levels showed negative correlations with more reliable obesity parameters (waist circumference and waist-to-hip ratio) but not with BMI, particularly in the deep frontal white matter and dorsal anterior cingulate gyrus of the left cerebral hemisphere. Notably, insulin demonstrated a significant negative impact on NAA (ρ = -0.409 and ρ = -0.410; p < 0.01) and Cho levels (ρ = -0.403 and ρ = -0.392; p < 0.01) at these locations in obese individuals. Conclusions: Central obesity and hyperinsulinemia negatively affect specific brain regions associated with cognitive and emotional processing, while BMI is not a reliable parameter for assessing brain metabolism.

Microglial activation without peripheral immune cell infiltration characterises mouse and human cerebral small vessel disease.

Cerebral small vessel diseases (SVDs) involve diverse pathologies of the brain's small blood vessels, leading to cognitive deficits. Cerebral magnetic resonance imaging (MRI) reveals white matter hyperintensities (WMHs), lacunes, microbleeds and enlarged perivascular spaces in SVD patients. Although correlations of MRI and histopathology help to understand the pathogenesis of SVD, they do not explain disease progression. Mouse models, both genetic and sporadic, are valuable for studying SVD, but their resemblance to clinical SVD is unclear. The study examined similarities and differences between mouse models of SVDs and human nonamyloid SVD specimens. We analysed four mouse models of SVD (hypertensive BPH mice, Col4a1 mutants, Notch3 mutants and Htra1-/- mice) at different stages for changes in myelin, blood-brain barrier (BBB) markers, immune cell populations and immune activation. The observations from mouse models were compared with human SVD specimens from different regions, including the periventricular, frontal, central and occipital white matter. Postmortem MRI followed by MBP immunostaining was used to identify white matter lesions (WMLs). Only Notch3 mutant and hypertensive BPH mice showed significant changes in myelin basic protein (MBP) immunostaining, correlating with MRI patterns. These changes were linked to altered microglial morphology and focal plasma protein staining around blood vessels, without peripheral immune cell infiltration. In human specimens, both normal-appearing white matter (NAWM) and WMLs lacked peripheral cell infiltration. However, WMLs displayed altered microglial morphology, reduced myelin staining and occasional fibrinogen staining around arterioles and venules. Our data show that Notch3 mutants and hypertensive BPH/2J mice recapitulate several features of human SVD, including microglial activation, focal sites of demyelination and perivascular plasma protein leakage without peripheral immune cell infiltration.

Association of inflammatory cytokines with magnetic resonance imaging features of the brain in patients with depression.

There is growing evidence that the imbalance of inflammatory cytokines plays an important role in the pathophysiological mechanism of depression. However, the effects of inflammatory cytokines on the whole brain in patients with depression are still not fully elucidated. The present study aimed to investigate the relationship between inflammatory cytokines and cerebral magnetic resonance imaging (MRI) features using voxel-based whole-brain analysis in patients with depression. A total of 60 patients with depression and 60 healthy controls (HCs) were included. Interleukin-1 was positively correlated with gray matter volume (GMV) in the left putamen and negatively correlated with regional homogeneity (ReHo) and degree centrality (DC) in the left anterior cingulate cortex. Interleukin-6 was positively correlated with GMV in the right superior parietal lobule and ReHo in the left pallidum and putamen. Interferon-α was negatively correlated with DC in the left postcentral gyrus. The ReHo in the left pallidum in depressed patients was lower than that in HCs. The FCs based on the left pallidum as the seed in depressed patients were significantly reduced. The imaging features of the left pallidum had good performance (area under the curve: 0.891) for identifying depressed patients. Inflammatory cytokines are associated with cerebral imaging features in patients with depression and in particular, the abnormal imaging features of the left pallidum may be a potential neuroimaging biomarker of depression.

Direct synchronized cardioversion not independently associated with infarcts on cerebral magnetic resonance imaging and clinical outcomes in patients with atrial fibrillation

Abstract Background Direct synchronized cardioversion (DCV) is frequently performed in atrial fibrillation (AF). In general, DCV is considered a safe procedure. A rare, but feared complication following DCV is an overt ischemic stroke resulting from embolization of a left atrial clot to the cerebral circulation. Purpose The aim of the present study was to assess the association of DCV with infarcts on brain magnetic resonance imaging (bMRI) and clinical outcomes. Methods 2386 patients of the Swiss AF cohort were included. 1731 patients were evaluated by bMRI. DCVs were recorded by questionnaire. Patients were categorized by number of DCVs performed before enrollment (0,1,≥2). BMRI were conducted at baseline and after 2 years (n=1227) and analyzed for large noncortical or cortical infarcts (LNCCI) and small noncortical infarcts (SNCI). Clinical outcomes were recorded during follow-up. Associations of DCV and outcome-measures were assessed by multivariate analyses. Results There was no independent association between the number of DCV and infarct prevalence (LNCCI + SNCI) on baseline bMRI (DCV 1 vs. 0: OR 0.95 [95% CI 0.73-1.26]; DCV ≥2 vs. 0: OR 1.04 [0.73-1.51]) or between DCV performed during follow-up and new infarcts on bMRI at 2 years (OR 1.46 [0.54-3.31]). DCVs were not associated with overt stroke or transient ischemic attack (DCV 1 vs. 0: HR 1.35 [0.87-2.03]; DCV ≥2 vs. 0: HR 1.54 [0.95-2.49]), hospitalization for heart failure (DCV 1 vs. 0: HR 1.03 [0.80-1.33]; DCV ≥2 vs. 0: HR 1.03 [0.77-1.37]), or death (DCV 1 vs. 0: HR 0.85 [0.67-1.09]; DCV ≥2 vs. 0: HR 0.92 [0.70-1.22]). Conclusions There was no association between DCV performed before enrollment and cerebral infarcts on baseline bMRI or between DCV performed during follow-up and new infarcts at 2 years. Moreover, DCV were not associated with clinical events.

The prevalence of subdural blood products in extremely premature infants with no history of abusive head trauma, studied by magnetic resonance imaging around term-equivalent age

BackgroundPrematurity and enlarged subarachnoid spaces are both hypothesised to represent an increased risk of subdural haemorrhages (SDHs) in infancy, both with and without a history of abuse.ObjectiveTo examine the prevalence of a previous haemorrhage, particularly SDHs, in infants born extremely prematurely around term-equivalent age; to examine intra- and inter-observer agreement for identification of haemorrhages; and to examine the width of the subarachnoid spaces.Materials and methodsA total of 121 extremely premature infants had cerebral magnetic resonance imaging (MRI) performed around term-equivalent age (mean chronological age 14.7 weeks, range 10.3–24.0 weeks). There were no infants investigated for abuse in our cohort. Intracranial haemorrhages were classified as isolated germinal matrix-haemorrhages, parenchymal haemorrhages (cerebellar- and cerebral haemorrhages), or extra-axial haemorrhages (subarachnoid haemorrhages, SDHs, or epidural haemorrhages). Sinocortical width and interhemispheric distance were measured.ResultsNo appreciable SDH was detected with the performed sequences. Haemorrhage/blood products related to prematurity were seen in 60 (49.5%) of the neonates. Agreement was good to very good for identification of haemorrhage. The mean sinocortical width was 3.5 mm with a standard deviation (SD) of 1.4 mm on the right side and 3.3 mm (SD 1.2 mm) on the left side. The mean interhemispheric distance was 3.1 mm (SD 1.1 mm). 61.1% of the infants had a sinocortical width > 3 mm on one or both sides.ConclusionOur study does not support the hypothesis that premature infants are more prone to SDH unrelated to abusive head trauma during the first 3–4 months of life. A large percentage of the ex-premature infants had prominent subarachnoid spaces.Graphical

Hemorrhagic Moyamoya Angiopathy in European Patients.

Moyamoya angiopathy (MMA) is an important cause of juvenile stroke but an overall rare disease among European populations compared with East Asian cohorts. Consecutively, hemorrhagic MMA is described well in East Asian cohorts, but knowledge in non-Asian patients is limited. Literature suggests that disease presentation may vary between those cohorts, also including hemorrhage frequencies. Hence, this article aims to analyze hemorrhagic MMA in European patients. We screened for patients of European origin with MMA from a single-center consecutive database of a German hospital specialized on MMA. Those who had a record of intracranial hemorrhage were analyzed individually regarding the type of hemorrhage and use of antiplatelet therapy before and after bleeding onset. To identify associated factors of intracranial hemorrhage, an age- and sex-matched control group was identified from the pool of patients without a history of hemorrhage. Both groups had a comparable follow-up time and were compared in terms of disease presentation, therapeutic interventions, and imaging characteristics, using both univariate tests and multivariate logistic regression analysis. From a pool of 332 patients with MMA we identified 288 of European ancestry. From those, 36 had a record of intracranial hemorrhage (12.5%). Thirty-three patients presenting with 37 events were included for further analysis and case-control-comparison. Most events were intracerebral hemorrhage (n=20; 54%) and subarachnoid hemorrhage (n=11; 30%). 78% developed hemorrhage although no antiplatelet therapy was in use (n=29). Seven patients developed intracranial hemorrhage ipsilateral to prior bypass surgery (21%), while 29 of the control patients had a bypass surgery (88%; P=0.0001). There was no significant difference in terms of unilateral or bilateral disease type, history of hypertension, as well as imaging characteristics (high Suzuki stage and the presence of collateral pathways in conventional angiography, as well as ischemic defects and the presence of microbleeds on cerebral magnetic resonance imaging; P>0.05 in multivariate analysis, respectively). Bypass surgery was negatively associated with the development of intracranial hemorrhage in MMA in European patients. There was no difference in terms of a history of hypertension between groups, indicating that blood pressure is not the major contributor for rupture of fragile collateral vessels. The investigated imaging characteristics were not associated to hemorrhage onset and, therefore, are not suitable as a tool of screening for patients at risk.

Two Patients With Ipsilateral Cerebellar Hemorrhage After Superficial Temporal Artery-Middle Cerebral Artery Bypass Grafting.

To summarize the clinical experience of ipsilateral cerebellar hemorrhage after superficial temporal artery-middle cerebral artery bypass surgery. The clinical data of 2 patients with cerebellar hemorrhage after superficial temporal artery-middle cerebral artery bypass grafting were retrospectively collected, including 1 case with left cerebellar hemorrhage after left cerebral artery bypass grafting and 1 case with right cerebellar hemorrhage after right cerebral artery bypass grafting. The perioperative blood pressure, laboratory, and imaging data were analyzed. All patients had a history of hypertension, and their perioperative blood pressure was stable. Low-density lipoprotein cholesterol and high-density lipoprotein cholesterol were normal before the operation. Cerebral magnetic resonance imaging showed cerebral atherosclerosis and multiple ischemic cerebral infarcts. At 24 hours after surgery, the patients' continuous epidural low drainage was 260 mL and 160 mL, respectively. The amount of cerebellar bleeding was small, and no new sequelae were left after conservative treatment with drugs. Cerebellar hemorrhage after superficial temporal artery-middle cerebral artery bypass grafting is related to perioperative blood pressure fluctuation, hemodynamic changes, hemorrhagic transformation of ischemic lesions, and excessive cerebrospinal fluid drainage. Maintaining stable blood pressure during the perioperative period and avoiding excessive and rapid loss of cerebrospinal fluid after operation can reduce the occurrence of this complication.

A Simple MRI Score Predicts Pathological General Movements in Very Preterm Infants with Brain Injury-Retrospective Cohort Study.

Very preterm infants are at increased risk of brain injury and impaired brain development. The Total Abnormality Score and biometric parameters, such as biparietal width, interhemispheric distance and transcerebellar diameter, are simple measures to evaluate brain injury, development and growth using cerebral magnetic resonance imaging data at term-equivalent age. The aim of this study was to evaluate the association between the Total Abnormality Score and biometric parameters with general movements in very preterm infants with brain injury. This single-center retrospective cohort study included 70 very preterm infants (≤32 weeks' gestation and/or <1500 g birth weight) born between January 2017 and June 2021 in a level-three neonatal intensive care unit with brain injury-identified using cerebral magnetic resonance imaging data at term-equivalent age. General movements analysis was carried out at corrected age of 8-16 weeks. Binary logistic regression and Spearman correlation were used to examine the associations between the Total Abnormality Score and biometric parameters with general movements. There was a significant association between the Total Abnormality Score and the absence of fidgety movements [OR: 1.19, 95% CI = 1.38-1.03] as well as a significant association between the transcerebellar diameter and fidgety movements (Spearman ρ = -0.269, p < 0.05). Among very preterm infants with brain injury, the Total Abnormality Score can be used to predict the absence of fidgety movements and may be an easily accessible tool for identifying high-risk very preterm infants and planning early interventions accordingly.

Identification of biallelic mutations in MCM3AP and comprehensive literature analysis.

Minichromosome maintenance complex component 3 associated protein (MCM3AP) is a gene in which mutations can result in autosomal recessive peripheral neuropathy with or without impaired intellectual development. The MCM3AP genotype-phenotype correlation and prognosis remain unclear. The aim of this study was to explore the genotype-phenotype correlations pertaining to MCM3AP. Whole-exome sequencing (WES) combined with copy number variation sequencing (CNV-seq) were performed on the genomic DNA isolated from a Chinese family, and Sanger sequencing, quantitative PCR and cDNA analyses were performed to examine the mutations. The retrospective study was conducted on 28 individuals with biallelic MCM3AP mutation-related diseases, including features such as mutations, motor development impairment, intellectual disability, weakness/atrophy, and cerebral magnetic resonance imaging abnormalities. Sequencing identified novel compound heterozygous mutations in MCM3AP, namely, a paternal variant c.1_5426del (loss of exons 1-25) and a maternal splicing variant c.1858 + 3A>G. Functional studies revealed that the variant c.1858 + 3A>G resulted in the heterozygous deletion of exon 5, thereby affecting splicing functionality. Furthermore, the compound heterozygous mutation may affect the functionality of the protein domain. Retrospective analysis revealed different genotype-phenotype correlations for the pathogenic variants in biallelic MCM3AP: all individuals (100%) with mutations outside the Sac3 domain exhibited early-onset symptoms, motor developmental delays, and cognitive abnormalities, conversely, the proportions of individuals carrying mutations within the domain were 26.7% (motor delays) and 46.7% (cognitive abnormalities). Our findings further expand the genetic mutation spectrum of biallelic MCM3AP and highlight the genotype-phenotype associations. Additionally, we elaborate on the importance of rehabilitation intervention.

Carotid artery stenosis is related to cerebral small vessel disease magnetic resonance imaging burden

BackgroundCerebral small vessel disease (CSVD) encompasses conditions that affect small blood vessels of the brain, the most common being atherosclerosis. Magnetic resonance imaging (MRI) CSVD markers include lacunar strokes (LS), white matter hyperintensities (WMH), microbleeds, enlarged perivascular spaces (EPVS), and brain atrophy. Large and small cerebral arteries share an anatomical and functional connection, but the role of large vessel atherosclerosis in atherosclerotic CSVD hasn't been established. The aim of this study was to evaluate the involvement of large vessel pathology in atherosclerotic CSVD. MethodsThis cross-sectional study included 98 patients treated at the Neurology Clinic of the University Clinical Center of Serbia in Belgrade, from February 2018 to December 2023, who had atherosclerotic CSVD confirmed by neuroimaging and underwent extracranial color duplex sonography. Data on patients’ gender, age, cerebrovascular risk factors (dyslipidemia, hypertension, diabetes mellitus, smoking status), ultrasonography findings (intima-media thickness - IMT, carotid and vertebral artery stenosis, and hemodynamics), and CSVD imaging markers were collected, and the CSVD MRI burden score was calculated. ResultsAge correlated with LS and WMH (p < 0.05 for both). Hypertension correlated with WMH (p = 0.016), and smoking with LS (p = 0.043). Brain atrophy was more common in women (p = 0.016). The majority of patients had low-grade (<50 %) carotid stenosis. There was a strong correlation between all morphological parameters of internal carotid artery stenosis and the CSVD burden score (p < 0.05 for all). The hemodynamic parameters of internal carotid artery stenosis and morphological and hemodynamic parameters of vertebral artery stenosis didn't correlate with the CSVD burden score. ConclusionsThis study shows a strong correlation between cerebral large and small vessel pathology. We recommend the use of extracranial color duplex sonography in the evaluation of patients with CSVD as a supplementary method for follow-up, as this would allow the identification of patients whose condition might progress.

Novel mutation identified in CONT3 causes IDDSADF: a case report and literature review.

The carbon catabolite repression 4-negative on TATA-less transcription complex subunit 3 gene (CONT3) plays a key role in regulating the mRNA transcription and protein translation of other genes. Mutations in CONT3 have also recently been implicated as a causative factor of intellectual developmental disorder with speech delay, autism, and dysmorphic facies (IDDSADF). However, to date, only a few CONT3 mutations have been reported to be associated with IDDSADF-related diseases. In the present case, we report a Chinese patient with developmental delay, verbal regression, and facial dysmorphism, in whom cerebral magnetic resonance imaging showed an expansion of the lateral ventricle. The patient was diagnosed with an IDDSADF-related disease caused by a de novo c.1616_1623del mutation in exon 14 of CONT3, which was confirmed by whole-exome sequencing and direct Sanger sequencing. This case report is the first known documentation of a pathogenic mutation at the c.1616_1623del locus of CONT3 in the worldwide population. It provides a critical theoretical basis for the specific gene-based diagnosis of IDDSADF-related diseases and expands the mutation profile of CONT3.

Cerebrovascular Involvement in Transthyretin Amyloid Cardiomyopathy.

Background: Intracardiac thrombosis is common in transthyretin amyloid cardiomyopathy (ATTR-CM), and patients are at risk for thromboembolic events. However, silent cerebral infarcts and the extent of cerebral small vessel disease in patients with cardiac amyloidosis are unknown. Methods: Thirty-two consecutively selected ATTR-CM patients were prospectively studied by cerebral magnetic resonance imaging (cMRI) and compared with 43 CHA2DS2-VASc-matched controls (Co). Structural clinical standard cMRI sequences and features of cerebral vessel involvement were included and quantified by two board certified neuroradiologists in consensus blinded to clinical status. Group differences were estimated using generalized (logistic) linear regression models adjusting for vascular risk factors based on the CHA2DS2-VASc score. Results: The median CHA2DS2-VASc score was 4 for ATTR-CM and Co (p = 0.905). There were no differences between groups in the frequency of current or former smokers (p = 0.755), body-mass-index > 30 (p = 0.106), and hyperlipidemia (p = 0.869). The number of territorial infarcts (4 vs. 0, p = 0.018) was higher in ATTR-CM compared to Co, as was the mean number of cerebral microbleeds (1.4 vs. 0.3, p ≤ 0.001) and the number of Virchow-Robin spaces (43.8 vs. 20.6, p ≤ 0.001). Lacunar lesion presence was higher in ATTR-CM (6 vs. 2, p = 0.054). CHA2DS2-VASc score, atrial fibrillation, anticoagulation, and the interaction term of CHA2DS2-VASc score and atrial fibrillation did not affect the probability of a territorial ischemic lesion or lacunar lesion in logistic regression modeling. Conclusions: In patients with ATTR-CM free from clinically apparent neurological symptoms, cMRI revealed unreported significant small cerebral vessel disease and territorial ischemia. Our findings may support low thresholds for anticoagulation and cMRI in patients with ATTR-CM.

Risk factors for nonidiopathic and idiopathic facial nerve palsies: findings of a retrospective study

BackgroundIdiopathic (IF) and nonidiopathic facial (NIF) nerve palsies are the most common forms of peripheral facial nerve palsies. Various risk factors for IF palsies, such as weather, have been explored, but such associations are sparse for NIF palsies, and it remains unclear whether certain diagnostic procedures, such as contrast agent-enhanced cerebral magnetic resonance imaging (cMRI), are helpful in the differential diagnosis of NIF vs. IF.MethodsIn this retrospective, monocentric study over a five-year period, the medical reports of 343 patients with peripheral facial nerve palsy were analysed based on aetiology, sociodemographic factors, cardiovascular risk factors, consultation time, diagnostic procedures such as cMRI, and laboratory results. We also investigated whether weather conditions and German Google Trends data were associated with the occurrence of NIF. To assess the importance of doctors’ clinical opinions, the documented anamneses and clinical examination reports were presented and rated in a blinded fashion by five neurology residents to assess the likelihood of NIF.ResultsA total of 254 patients (74%) had IF, and 89 patients (26%) had NIF. The most common aetiology among the NIF patients was the varicella zoster virus (VZV, 45%). Among the factors analysed, efflorescence (odds ratio (OR) 17.3) and rater agreement (OR 5.3) had the highest associations with NIF. The day of consultation (Friday, OR 3.6) and the cMRI findings of contrast enhancement of the facial nerve (OR 2.3) were also risk factors associated with NIF. In contrast, the local weather, Google Trends data, and cardiovascular risk factors were not associated with NIF.ConclusionThe findings of this retrospective study highlight the importance of patient history and careful inspections to identify skin lesions for the differential diagnosis of acute facial nerve palsy. Special caution is advised for hospital physicians during the tick season, as a surge in NIF cases can lead to a concomitant increase in IF cases, making it challenging to choose adequate diagnostic methods.

Idiopathic Intracranial Hypertension in a Breast Cancer Patient Receiving Adjuvant Paclitaxel: A Case Report and a Review of the Liter

Background: Paclitaxel is a cytotoxic drug belonging to the taxane family, widely used in medical oncology, such as in breast cancer, in which it has demonstrated great efficacy, whether as metastatic or adjuvant treatment. Paclitaxel's main toxicities are immediate anaphylactic reactions and peripheral neuropathy. The occurrence of idiopathic intracranial hypertension is an unusual event.  The Clinical Case: This is a 53-year-old Moroccan woman, treated for breast cancer; she was put on sequential adjuvant chemotherapy after surgery. She received 3 courses of Doxorubicin and Cyclophosphamide without incident and then we started weekly Paclitaxel. From the very first courses, the patient presented with continuous but moderate headaches, and a cerebral Magnetic Resonance Imaging (MRI) showed signs of idiopathic intracranial hypertension, which was confirmed and treated in the neurology department. The patient progressed well, allowing the 12 courses of paclitaxel to be continued.  Conclusion: Idiopathic intracranial hypertension is an unusual complication of paclitaxel. The occurrence of headache or other neurological symptoms in a patient being treated for breast cancer requires an urgent brain MRI, particularly to look for brain metastases.

Optic nerve infiltration as a significant feature in the treatment of a rare secondary intraocular lymphoma derived from a primary breast B-cell lymphoma: A case report

Intraocular lymphoma (IOL) is a rare form of lymphocytic malignancy which may pose a significant diagnostic challenge as it may masquerade various uveitis entities, with secondary IOL being less common than primary IOL. A 47-year-old woman presented with blurring of the right eye and floaters since 5 months before admission. She had a history of complete remission from primary breast diffuse large B cell lymphoma for five consecutive years. Both eyes had vitreous haziness and several yellowish, thickened retinal lesions with edematous and infiltrated optic nerves. The best-corrected visual acuity was hand movement for the right eye and 6/45 for the left eye. Cytopathologic exam of the vitreous showed a B cell origin lymphoma. Cerebral magnetic resonance imaging revealed new parenchymal lesions suggestive of metastatic lesions. The patient was given multiple rituximab intravitreal injections and systemic chemotherapy. Treatment options for IOL might be influenced by the central nervous system (CNS) involvement, which is signified by infiltration of the optic nerve in this case.

Inflammation-Triggered Enlargement of Choroid Plexus in Subacute COVID-19 Patients with Neurological Symptoms.

To investigate whether choroid plexus volumes in subacute coronavirus disease 2019 (COVID-19) patients with neurological symptoms could indicate inflammatory activation or barrier dysfunction and assess their association with clinical data. Choroid plexus volumes were measured in 28 subacute COVID-19 patients via cerebral magnetic resonance imaging (MRI), compared with those in infection-triggered non-COVID-19 encephalopathy patients (n = 25), asymptomatic individuals after COVID-19 (n = 21), and healthy controls (n = 21). Associations with inflammatory serum markers (peak counts of leukocytes, C-reactive protein [CRP], interleukin 6), an MRI-based marker of barrier dysfunction (CSF volume fraction [V-CSF]), and clinical parameters like olfactory performance and cognitive scores (Montreal Cognitive Assessment) were investigated. COVID-19 patients showed significantly larger choroid plexus volumes than control groups (p < 0.001, η2 = 0.172). These volumes correlated significantly with peak leukocyte levels (p = 0.001, Pearson's r = 0.621) and V-CSF (p = 0.009, Spearman's rho = 0.534), but neither with CRP nor interleukin 6. No significant correlations were found with clinical parameters. In patients with subacute COVID-19, choroid plexus volume is a marker of central nervous system inflammation and barrier dysfunction in the presence of neurologic symptoms. The absence of plexus enlargement in infection-triggered non-COVID-19 encephalopathy suggests a specific severe acute respiratory syndrome coronavirus 2 effect. This study also documents an increase in choroid plexus volume for the first time as a parainfectious event. ANN NEUROL 2024;96:715-725.