Hyperintense Foci Research Articles

Thymoma-associated paraneoplastic encephalitis resolved by robotic-assisted radical thymectomy: a case report

BackgroundWe present a rare case of autoimmune encephalitis associated with an incidentally discovered thymoma. Limited case reports exist of thymoma-associated paraneoplastic encephalitis. The unique clinical presentation and subsequent surgical intervention offer valuable insights into the management of similar cases.Case presentationA 41-year-old female presented with irritability, personality changes, fatigue, and seizures. Physical examination and bloodwork on first encounter were unremarkable. Neurological evaluation was done, and a brain magnetic resonance imaging (MRI) with and without contrast demonstrated numerous hyperintensity foci within bilateral cerebral cortices on T2-/FLAIR-weighted images affecting only the supratentorial brain, findings highly suggestive of encephalitis. A chest computed tomography (CT) revealed an anterior mediastinal mass compatible with a thymoma. Cerebrospinal fluid from a lumbar puncture was unremarkable. Paraneoplastic autoantibody evaluation was positive, and the patient was diagnosed with autoimmune encephalitis believed to be associated with an incidentally discovered thymoma. Given her rapid neurological deterioration, the thoracic surgery team was urgently consulted.Patient underwent robotic-assisted radical thymectomy with prompt resolution of symptoms. During her 2-week postoperative visit, she was neurologically intact with no residual deficits. Follow-up MRI at 6 months demonstrated resolution of abnormal signal intensities, with continued improvement noted 1-year post-operation. Chest CT scans at 6 and 12 months revealed no residual or recurrent thymic tissue.ConclusionsThis case illustrates the connection between thymoma and autoimmune neurological disorders like encephalitis. It emphasizes the significance of comprehensive neurological and oncological assessments for patients with unexplained neurological symptoms. Prompt diagnosis and treatment led to positive outcomes in this case, underscoring the potential for full recovery in similar cases.

Assessment of Post-COVID-19 Changes in Brain-Clinical and Imaging Evaluation Using MRI Vessel Wall Imaging and Complementary MRI Methods.

Background/Objectives: The aim of the study was to evaluate the usefulness of vessel wall imaging and MRI in assessment of the post-COVID-19 changes in the brain. VWI is a progressive MRI technique that provides precise imaging of the pathological process in the wall of the vessel. It might help us to better understand the pathophysiology of COVID-19-related neurological lesions and may have an impact on management protocols. Methods: A total of 43 patients were included in the study; the post-COVID-19 group included 23 patients hospitalized for COVID-19 (mean age of the group: 53.52 years; 26% male, 74% female). The control group consisted of 20 patients from the general population who did not suffer from COVID-19 (mean age: 52.15 years; 35% male, 65% female). MRI examinations were performed on a 3T scanner (Biograph mMR, Siemens). The VW-MRI protocol included T1-weighted SPACE FS black-blood images, FLAIR images, SWI, and MRA. Results: Several radiological changes in post-COVID-19 patients were described: hyperintense foci in the white matter of the brain hemispheres, in the lower parts of the temporal lobes, and in the structures of the posterior cranial fossa; presence of engorgement of deep medullary veins or perivascular enhancement; presence of inflammatory vessel thickening in VWI images; changes in hippocampus size; presence of cortical atrophy; and thickening of the mucous membrane of the paranasal sinuses. The presence of atherosclerotic vessel thickening in VWI and the width of the third ventricle depended on the age of the patient. Conclusions: VWI and MRI may be useful in the assessment of post-COVID-19 lesions in the brain.

Dynamic Expansion and Contraction of Multiple Sclerosis T2-weighted Hyperintense Lesions are Present Below the Threshold of Visual Perception.

The study of T2-weighted hyperintense lesions resulting from autoimmune inflammatory injury and associated volumes within the CNS remains fundamental to the diagnosis and disease surveillance of multiple sclerosis (MS). We investigated the dynamic changes of individual T2-weighted hyperintense MS lesions on MRI and hypothesized that variations may be present below the threshold of visual perception when evaluating longitudinal data. A retrospective study was performed of people with MS, incorporating data from three consecutive MRI time points acquired within a single academic center. All included MRI studies lacked formal imaging interpretations of newly enlarging or contracting T2-weighted hyperintensities. Well defined, non-coalescing, individual T2-weighted hyperintense lesions were targeted. A total of 8-12 lesions were randomly selected in a blinded fashion at MRI time point 1 and 3-dimensional lesion volumes followed over MRI time points 2 and 3. The impact of treatment on lesion expansion and relationship to brain MRI advancement, patient-reported progression of disease, and physician-identified progression was also studied. The study cohort was comprised of 115 people (81 (70.4%) female; mean disease duration of 6.62 years(y) (standard deviation: 6.68y)) who were primarily White (79.1%). A total of 1,426 focal T2-weighted hyperintense MS lesions were identified on MRI time point 1 and longitudinally followed over MRI time points 2 and 3. In the evaluation of raw changes in individual T2-weighted hyperintense lesion volumes from MRI time point 1 to MRI time point 2, a similar number of individuals were observed with predominantly expanding (49/115; 42.6%) or contracting (51/115; 44.3%) lesions. However, the majority of lesions expanded in volume (48/115; 41.7%) versus those that contracted (45/115; 39.1%) when evaluating MRI time point 3 to time point 1. Those individuals not on active treatment had a 67.15% reduction in the odds of more individual lesions predominantly contracting in volume relative to those on low-efficacy disease modifying therapy treatment (95% CI=[-83.89, -33.01], p=0.0008) and 74.02% reduction for those on high-efficacy treatment (95% CI=[-87.37%,-46.56%], p<0.0001). Dynamic changes in T2-weighted hyperintense lesions are abundant, occurring below the threshold of visual perception and are present more frequently in untreated individuals. MS = multiple sclerosis; DMT = disease modifying therapy; 2D = 2-dimensional; 3D = 3-dimensional; LMS = Lambda, Mu, and Sigma.

Retrospective Study of Multimodality Imaging Features of Chondroblastoma

PurposeTo evaluate the multimodality imaging features of chondroblastoma.Materials and MethodsRetrospective analysis of imaging features of 52 cases of histopathologically proven chondroblastoma from 2010 to 2022 was performed. Radiographs were evaluated for lesion site, location, morphology, margins, matrix mineralization, cortical breach, periosteal reaction, eccentricity, and subarticular extension. Appearance on T1, T2 weighted and post-contrast T1 was evaluated on MRI, with analysis of peritumoral edema and joint effusion.ResultsMean patient age was 18 years (10–57 years) with male preponderance (M = 39; F = 13). 75% (n = 39) cases involved an unfused skeleton and 25% (n = 13) affected a mature skeleton. Appendicular skeleton was involved in 88.5% (n = 46) cases and axial skeleton was involved in 11.5% (n = 6) cases with all cases involving epiphysis/epiphyseal equivalent. Radiographically, all cases were well-defined geographic osteolytic lesions with a narrow zone of transition, thin sclerotic rim and lobulated [56% (n = 29)] or smooth [44% (n = 23)] margins. Matrix calcification appreciable in 62% (n = 32) cases was ‘fluffy/smudgy’. Chondroblastoma appeared isointense (83%, n = 43) on T1 MRI with characteristically low signal and hyperintense foci within (67%, n = 35) on T2-weighted images and post-contrast enhancement [heterogeneous lobular (88%, n = 46) or septal pattern (12%, n = 6)] with all barring three lesions showing perilesional edema. None of the cases of chondroblastoma in our study developed metastasis till last follow-up (mean: 71 months).ConclusionChondroblastoma has distinctive imaging appearance and is often unlike majority other cartilaginous benign lesions due to characteristic low T2 signal on MRI and associated exuberant perilesional edema.

Ablation of Small Liver Metastases Presenting as Foci of Diffusion Restriction on MRI-Results from the Prospective Minimally Invasive Thermal Ablation (MITA) Study.

Liver metastases presenting as small hyperintense foci on diffusion-weighted imaging (DWI) pose a therapeutic challenge. Ablation is generally not possible since these lesions are often occult on ultrasound and CT. The purpose of this prospective study was to assess if small liver metastases (≤10 mm) detected on DWI can be successfully localized and ablated with the Hepatic Arteriography and C-Arm CT-Guided Ablation technique (HepACAGA). All consecutive patients with small liver metastases (≤10 mm), as measured on DWI, referred for ablation with HepACAGA between 1 January 2021, and 31 October 2023, were included. Re-ablations and ablations concomitant with another local treatment were excluded. The primary outcome was the technical success rate, defined as the intraprocedural detection and subsequent successful ablation of small liver metastases using HepACAGA. Secondary outcomes included the primary and secondary local tumor progression (LTP) rates and the complication rate. A total of 15 patients (26 tumors) were included, with liver metastases from colorectal cancer (73%), neuro-endocrine tumors (15%), breast cancer (8%) and esophageal cancer (4%). All 26 tumors were successfully identified, punctured and ablated (a technical success rate of 100%). After a median follow-up of 9 months, primary and secondary LTP were 4% and 0%, respectively. No complications occurred. In this proof-of-concept study, the HepACAGA technique was successfully used to detect and ablate 100% of small liver metastases identified on DWI with a low recurrence rate and no complications. This technique enables the ablation of subcentimeter liver metastases detected on MRI.

Central Vein Sign and Paramagnetic Rim Lesions: Susceptibility Changes in Brain Tissues and Their Implications for the Study of Multiple Sclerosis Pathology.

Multiple sclerosis (MS) is the most common acquired inflammatory and demyelinating disease in adults. The conventional diagnostic of MS and the follow-up of inflammatory activity is based on the detection of hyperintense foci in T2 and fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging (MRI) and lesions with brain-blood barrier (BBB) disruption in the central nervous system (CNS) parenchyma. However, T2/FLAIR hyperintense lesions are not specific to MS and the MS pathology and inflammatory processes go far beyond focal lesions and can be independent of BBB disruption. MRI techniques based on the magnetic susceptibility properties of the tissue, such as T2*, susceptibility-weighted images (SWI), and quantitative susceptibility mapping (QSM) offer tools for advanced MS diagnostic, follow-up, and the assessment of more detailed features of MS dynamic pathology. Susceptibility-weighted techniques are sensitive to the paramagnetic components of biological tissues, such as deoxyhemoglobin. This capability enables the visualization of brain parenchymal veins. Consequently, it presents an opportunity to identify veins within the core of multiple sclerosis (MS) lesions, thereby affirming their venocentric characteristics. This advancement significantly enhances the accuracy of the differential diagnostic process. Another important paramagnetic component in biological tissues is iron. In MS, the dynamic trafficking of iron between different cells, such as oligodendrocytes, astrocytes, and microglia, enables the study of different stages of demyelination and remyelination. Furthermore, the accumulation of iron in activated microglia serves as an indicator of latent inflammatory activity in chronic MS lesions, termed paramagnetic rim lesions (PRLs). PRLs have been correlated with disease progression and degenerative processes, underscoring their significance in MS pathology. This review will elucidate the underlying physical principles of magnetic susceptibility and their implications for the formation and interpretation of T2*, SWI, and QSM sequences. Additionally, it will explore their applications in multiple sclerosis (MS), particularly in detecting the central vein sign (CVS) and PRLs, and assessing iron metabolism. Furthermore, the review will discuss their role in advancing early and precise MS diagnosis and prognostic evaluation, as well as their utility in studying chronic active inflammation and degenerative processes.

Herpes simplex (HSV1) encephalitis in an infant: a case report study

Introduction and importance: The herpes simplex virus (HSV) is the most common cause of acute sporadic encephalitis, a severe and often fatal disease in humans. It is associated with high mortality and morbidity rates in untreated patients. Case presentation: An 11-month-old child was admitted to the hospital presenting with acute fever and seizures characterized by staring episodes and spastic movements affecting the left side of the body. Diagnostic workup revealed abnormal T2 flair hyperintense foci in bi-temporoparietal lobes and right thalamus, and bilateral otomastoiditis were detected. A positive result for HSV-1 was obtained through HSV type 1/2 PCR testing, leading to a diagnosis of herpes encephalitis. Clinical discussion: While acyclovir has proven to be an effective therapeutic option, mortality and neurological sequelae continue to be reported in a notable fraction of patients. HSV encephalitis is mainly caused by two strains of the herpes simplex virus: HSV-1, more frequently observed in children and adults, and HSV-2, commonly seen in neonates and those with compromised immune systems. MRI scans often reveal that the brain lesions are localized to certain areas, although temporal involvement may not always be evident. The symptoms of herpetic encephalitis can greatly vary, making early diagnosis and treatment vital for improving patient outcomes. Conclusion: this case report highlights the clinical presentation, diagnostic challenges, and treatment strategies for HSV-1 encephalitis and underscores the importance of early recognition and prompt initiation of antiviral therapy in suspected cases of HSV-1 encephalitis.

Brain MRI in infants exposed to the Zika virus, with one-year follow-up: expanding the phenotype.

To analyze longitudinal changes between two brain magnetic resonance imaging (MRI) exams performed one year apart in symptomatic infants with congenital Zika syndrome (CZS) and normocephalic infants exposed to the Zika virus (ZIKV) prenatally. This was a prospective observational study. Infants born to women who tested positive for ZIKV on reverse transcription-quantitative polymerase chain reaction during pregnancy were classified into two groups: symptomatic infants with CZS and asymptomatic infants. All of the infants underwent brain MRI at presentation and after one year of follow-up. All MRI scans were evaluated independently by a pediatric radiologist and a pediatric neuroradiologist, and the infants underwent clinical monitoring by a pediatric neurologist. The sample included 36 infants exposed to ZIKV perinatally. Therefore, a total of 72 MRI scans were evaluated. Among the 36 infants included a diagnosis of CZS was made in 25 (69.4%), of whom 18 presented with a combination of classic findings (including reduced brain volume, subcortical calcifications, brainstem hypoplasia, malformations of the corpus callosum, malformations of cortical development, and ventriculomegaly), as well as atypical findings such as hyperintense foci in the white matter on T2-weighted sequences. Of those same 25 infants, seven presented with mild lesions. Of the 11 normocephalic patients, five (13.9%) had atypical findings such as hyperintense foci in the white matter on T2-weighted sequences and no other manifestations of CZS, although there was mild neurological involvement. Six (16.6%) of the 36 patients had completely normal MRI scans with no neurological changes. No disease progression was observed during follow-up. In infants exposed to ZIKV perinatally, the frequency of classic and atypical findings on brain MRI seems to be associated with the neurological status. Brain MRI is an important diagnostic tool in the evaluation and monitoring of patients with congenital infection, because intracranial changes other than microcephaly can occur.

Presence and size of synovial masses within the navicular bursa correlate well between magnetic resonance imaging and bursoscopy and have a guarded prognosis.

Focal hyperintense lesions within the navicular bursa emanating from the dorsal border of the deep digital flexor tendon (DDFT) can be recognised on T1-weighted magnetic resonance images (MRI) and have been attributed to lameness in horses. Removal of these lesions, also referred to as synovial masses, by navicular bursoscopy is currently recommended. To investigate the correlation between MRI and navicular bursoscopic findings. It is hypothesised that the prognosis following surgery is proportional to the size of the DDFT lesion. Retrospective analysis of clinical records. Horses undergoing standing low-field MRI and navicular bursoscopy with >1 year follow-up were included. A grading system was developed to classify the size of synovial mass(es) and lesion(s) of the DDFT on MRI and at surgery. Generalised estimating equations were used to evaluate the association between MRI findings and surgery and between outcome and severity of the tendon injury. Fifty-nine horses presenting over a 15-year period (2006-2021) fulfilled inclusion criteria. Ninety navicular bursae were examined both on MRI and endoscopically. There was strong correlation between the size of synovial masses and tendon lesions on MRI and bursoscopy (p < 0.001, OR: 25.61, 95% CI 8.71-75.29 and p < 0.001, OR: 7.34, 95% CI 2.70-19.92, respectively). Size of tendon lesion and synovial mass had no impact on prognosis (p = 0.3, OR: 1, 95% CI 1-1 and p = 0.1, OR: 1, 95% CI 1-1, respectively), which was guarded (30.5% return to previous level of exercise). Performance data for conservatively treated horses with MRI-detected synovial masses was not considered, nor was the effect of navicular bursal effusion. Horses were not randomly assigned to treatment protocols. There is good correlation between MRI and bursoscopic findings of DDFT lesions and synovial masses within the navicular bursa, with no false positives. Size of the synovial masses and DDFT lesions does not influence prognosis following navicular bursoscopy.

Analysis of gene variation and long-term follow-up in children with phenylalanine hydroxylase deficiency diagnosed by newborn screening.

To retrospectively analyze the variation and characteristics of phenylalanine hydroxylase (PAH) gene, and to observe the long-term treatment effect and follow-up of newborns with PAH deficiency. Clinical data, treatment and follow-up results of 198 patients with PAH deficiency diagnosed by newborn screening in Jinan from 1996 to 2021 were collected. The genetic analysis of 55 patients with PAH deficiency diagnosed by newborn screening in Jinan and 213 patients referred from the surrounding areas of Jinan were summarized. Gene variations were checked by a customized Panel gene detection method. Blood phenylalanine-concentration and physical development indicators including height and weight were regularly monitored. Intellectual development was assessed using a neuropsychological development scale for patients aged 0-6 years and academic performance, and brain injury in patients was assessed using brain magnetic resonance imaging. c.728G>A, c.158G>A, c.721C>T, c.1068C>A, c.611A>G variations were common in PAH gene. The genotype of c.158G>A variation is compound heterozygous variation, with mainly a mild hyperpheny-lalaninemia. 168 patients with PAH deficiency who were followed-up regularly had normal physical development without dwarfism or malnutrition. Among the 33 preschool patients who underwent mental development assessment, 2 were mentally retarded and the initial treatment age was older than 6 months. Nine patients with an average age of (17.13±2.42) years completed brain magnetic resonance imaging, one case was normal, and 8 cases were abnormal. There were patchy or patchy hyperintense foci near the bilateral lateral ventricles on T2WI, and the intellectual development was normal. Compared with the other eight patients, the blood phenylalanine concentration of the normal child was better and stably controlled within the ideal range. c.728G>A, c.158G>A, c.721C>T, c.1068C>A, c.611A>G variations were common in PAH gene. After standardized treatment, most patients with PAH deficiency diagnosed by screening can obtain normal growth and intellectual development in adolescence, but there are different degrees of organic lesions in the cerebral white matter.

A Rare and Novel Pathogenic Variant of the PINK1 Gene Associated with Early-onset of Parkinson’s Disease - A Case Study

We reported a case of rare and novel PINK 1 gene variant associated with Early-onset Parkinson’s Disease (EOPD) in 40-year-old male patient. Patient was presented with clinical indications of dystonia (left&gt;right), hemidystonia and dystonic tremors. Patient has family history (elder sister) of parkinsonism diagnosed with PD at the age of 38 years, and the condition slowly deteriorated and died. Patient was subjected to MRI investigations of brain two years before on clinical condition of right upper limb involuntary movement since from past one year. MRI findings revealed few small non- specific foci of T2 hyperintensity seen scattered in the bilateral frontal white matter (R&gt;L)’ incidental findings of doubtful significance. Patient was referred for whole exome sequencing. The exome data analysis identified a “homozygous autosomal recessive variant” of PINK1 gene with variant nomenclature “c.823_825delATC; p.Ile275del (Chr1:20644531 ACAT&gt;A)” could be associated with EOPD with characterized rare clinical phenotypic manifestations in the form of hemidystonia.

The MR Imaging of Primary Intrahepatic Lymphoepithelioma-like Cholangiocarcinoma: A Diagnostic Challenge.

To characterize the magnetic resonance imaging features of primary intrahepatic lymphoepithelioma-like cholangiocarcinoma (LELCC). Thirty-four patients with 38 histologically confirmed LELCCs were enrolled retrospectively from January 2014 to August 2022. We evaluated the clinical features, histologic findings, and imaging manifestations on dynamic enhanced MRI. 74% (25/34) of the cases were associated with EBV infection. Moreover, patients infected with EBV exhibited a lower level of Ki-67 proliferation. The serum CA199 level was elevated in 10 patients. The median tumor diameter was 2.8 cm (range, 1.1-8.7 cm). Most tumors were well-defined with a smooth or lobulated margin and showed peripheral hyperintensity and central hypointensity on T2-weighted imaging (T2WI). T2 hyperintense foci were recognized in 8 patients. In the dynamic enhanced MRI, 21 tumors demonstrated Type A enhancement pattern (rim enhancement), 10 demonstrated Type B (rapid wash-in and wash-out), and seven demonstrated Type C (rapid wash-in without wash-out). Capsular enhancement in PVP or DP was found in 22 tumors. A few patients had satellite lesions, portal vein thrombosis, bile duct dilatation, and distal metastasis. Lymph node metastases were discovered pathologically in 11 patients. MRI findings of LELCC vary and are non-specific. While a majority of LELCCs exhibit typical features of intrahepatic cholangiocarcinoma (iCCA), unique findings like T2 hyperintense foci or capsular enhancement could suggest LELCC. EBV infection and elevated tumor markers can aid in differentiation. However, given the mimics of some cases of liver hypervascular lesions, histological examination remains essential for definitive diagnosis.

QUALITY OF LIFE OF A PATIENT AFTER ENDARTERECTOMY OF THE INTERNAL CAROTID ARTERY (ICA) FOLLOWINGAN ACUTE ISCHEMIC STROKE (AIS) DURING COVID-19

The aim of the study was to evaluate the quality of life of a patient af- terendarterectomy (CEA) of the Internal Carotid Artery (ICA) following an Acute ischemic stroke (AIS) during COVID-19.A right-handed, 51-year-old patient, a visual artist, single, in good health and no chronic illnesses to date, became infected with SARS-CoV-2 and contracted COVID-19. The presence of SARS-CoV-2 virus was confirmed by a RT PCR antigen test. The patient was hospitalized, and required mechanical ventilation at an Intensive Care Unit (ICU) before an acute ischemic stroke (AIS) onset. Except for untreated hypertension, her medical history was unremarkable. Her blood pressure was 180/100 mm Hg; her pulse was 76 beats per minute and was regular. AIS from the left middle cerebral artery (MCA) has resulted primarily in damage to the left hemisphere, and secondary effects on the right side resulting in body weakness and mild anomic aphasia. Magnetic resonance imaging (MRI) confirmed stroke and detected brain tissue damaged by an AIS. It revealed hyperintense foci in the T2 and FLAIR sequences, 21 mm in size in the left hemisphere of the brain. In search of the cause of AIS, CT angiography was performed. It revealed a large (90%) ICA occlusion. The patient was admitted to the emergency room at the Vascular Surgery Clinic with an Endovascular Subunit. The revascularization procedure (CEA) was performed under general endotracheal anesthesia with the use of the protocol and techniques (elaborated at the Department of Vascular Surgery and Endovascular Procedures, The John Paul II Hospital in Krakow). The CEA procedure improved her general health: she regained the ability to name objects and her HRQOL also improved in her perception. The improvement achieved was statistically significant. She returned to painting and functions well in society.The patient’s perception of HRQoL measured by the SF-36 domains was better after the CEA: a significant improvement in self-reported overall health has occured. The HRQoL outcome measures may be valuable in future clinical trials of comparing different methods of treatment offered after AIS.

Neurologic involvement in seronegative primary Sjögren's syndrome with positive minor salivary gland biopsy: a single-center experience.

To assess the demographics, neurologic manifestations, comorbidities, and treatment of patients with seronegative primary Sjögren's syndrome (pSS). We conducted a retrospective chart review on patients with seronegative pSS evaluated by a neurologist at the University of Utah Health between January 2010 and October 2018. The diagnosis was based on characteristic symptoms, positive minor salivary gland biopsy according to the American-European Consensus Group 2002 criteria, and seronegative antibody status. Of 45 patients who met the study criteria, 42 (93.3%) were Caucasian, and 38 (84.4%) were female. The patients' mean age at diagnosis was 47.8 ± 12.6 (range 13-71) years. Paresthesia, numbness and dizziness, and headache were noted in 40 (88.9%), 39 (86.7%), and 36 patients (80.0%), respectively. Thirty-four patients underwent brain magnetic resonance imaging. Of these, 18 (52.9%) showed scattered nonspecific periventricular and subcortical cerebral white matter T2/fluid-attenuated inversion recovery hyperintense foci. Twenty-nine patients (64.4%) presented to the neurology clinic prior to pSS diagnosis, and the median delay in diagnosis from the first neurology clinic visit was 5 (interquartile ranges 2.0-20.5) months. Migraine and depression were the most common comorbidities in 31 patients (68.9%). Thirty-six patients received at least one immunotherapy, and 39 were on at least one medication for neuropathic pain. Patients often display various nonspecific neurological symptoms. Clinicians should express a high degree of skepticism regarding seronegative pSS and consider minor salivary gland biopsy to avoid delaying diagnosis, as undertreatment can affect patients' quality of life.

Multi-modality imaging assessment of microbubbles and cerebral emboli in left ventricular pulsed field ablation.

Pulsed field ablation (PFA) may have a superior safety profile compared to other technologies, but it has the potential to cause gaseous microbubbles (MB), which may be associated with cerebral emboli. Limited relative safety data has been published regarding PFA in the left ventricle (LV). Healthy and chronic myocardial infarction (MI) swine underwent PFA (monopolar, biphasic, 25 Amps) in the LV using an irrigated focal catheter under intra-cardiac echocardiography (ICE) guidance for MB monitoring. Two control swine received air MBs through the lumen of the ablation catheter. Swine underwent brain MRI before and after PFA (or control air MB injection). Gross pathology and histology of brains with abnormal MRI findings were performed. Four healthy and 5 chronic MI swine underwent 124 left ventricular PFA applications. No PFA-related MB formation was noted on ICE. Both control swine developed multiple acute emboli in the thalamus and caudate on DWI, ADC, and FLAIR brain MRI images in response to air MB injection. Of the 9 PFA swine, there were no abnormalities on ADC or FLAIR images. There was one hyperintense focus in the left putamen on the DWI trace image, but the absence of ADC or FLAIR affirmation suggested it was artifact. Gross pathology and histopathology of this region did not detect any abnormalities. Focal monopolar biphasic PFA of both healthy and chronically infarcted left ventricular myocardium does not generate any MB or cerebral emboli observable on ICE and brain MRI.

Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.

Leukodystrophy with vanishing white matter (LVWM) is an autosomal recessive disease with typical pediatric-onset caused by mutations in one of the five EIF2B genes. Adult-onset (AO) cases are rare. In this observational study, we reviewed clinical and laboratory information of the patients with AO-LVWM assessed at two referral centers in Italy and Portugal from Jan-2007 to Dec-2019. We identified 18 patients (13 females) with AO-LVWM caused by EIF2B5 or EIF2B3 mutations. Age of neurological onset ranged from 16 to 60years, with follow-ups occurring from 2 to 37years. Crucial symptoms were cognitive and motor decline. In three patients, stroke-like events were the first manifestation; in another, bladder dysfunction remained the main complaint across decades. Brain MRI showed white matter (WM) rarefaction in all cases, except two. Diffusion-weighted imaging documented focal hyperintensity in the acute stage of stroke-like events. 1H-spectroscopy primarily showed N-acetyl-aspartate reduction; 18fluorodeoxyglucose-PET revealed predominant frontoparietal hypometabolism; evoked potential studies demonstrated normal-to-reduced amplitudes; neuro-ophthalmological assessment showed neuroretinal thinning, and b-wave reduction on full-field electroretinogram. Interestingly, we found an additional patient with LVWM-compatible phenotype and monoallelic variants in two distinct eIF2B genes, EIF2B1 and EIF2B2. AO-LVWM presents varying clinical manifestations at onset, including stroke-like events. WM rarefaction is the most consistent diagnostic clue even in the latest onset cases. Spectroscopy and electrophysiological features are compatible with axon, rather than myelin, damage. Cerebral glucose metabolic abnormalities and retinal alterations can be present. LVWM might also be caused by a digenic inheritance affecting the eIF2B complex.

Clinical and radiological description of 120 pediatric stroke-like episodes.

Stroke-like episodes (SLEs) are defined as acute onset of neurological symptoms mimicking a stroke and radiological lesions non-congruent to vascular territory. We aimed to analyze the acute clinical and radiological features of SLEs to determine their pathophysiology. We performed a monocenter retrospective analysis of 120 SLEs in 60 children over a 20-year period. Inclusion criteria were compatible clinical symptoms and stroke-like lesions on brain magnetic resonance imaging (MRI; performed for all 120 events) with focal hyperintensity on diffusion-weighted imaging in a non-vascular territory. Three groups were identified: children with mitochondrial diseases (n = 22) involving mitochondrial DNA mutations (55%) or nuclear DNA mutations (45%); those with other metabolic diseases or epilepsy disorders (n = 22); and those in whom no etiology was found despite extensive investigations (n = 16). Age at first SLE was younger in the group with metabolic or epilepsy disorders (18 months vs. 128 months; p < 0.0001) and an infectious trigger was more frequent (69% vs. 20%; p = 0.0001). Seizures occurred in 75% of episodes, revealing 50% episodes of SLEs and mainly leading to status epilepticus (90%). Of the 120 MRI scans confirming the diagnosis, 28 were performed within a short and strict 48-h period and were further analyzed to better understand the underlying mechanisms. The scans showed primary cortical hyperintensity (n = 28/28) with decreased apparent diffusion coefficient in 52% of cases. Systematic hyperperfusion was found on spin labeling sequences when available (n = 18/18). Clinical and radiological results support the existence of a vicious circle based on two main mechanisms: energy deficit and neuronal hyperexcitability at the origin of SLE.

Cardiovascular magnetic resonance findings in Danon disease: a case series of a family.

Cardiac involvement constitutes the primary cause of mortality in patients with Danon disease (DD). This study aimed to explore the cardiac magnetic resonance (CMR) features and progressions of DD cardiomyopathies in a family with long-term follow-up. Seven patients (five females and two males), belonging to the same family and afflicted with DD, were enrolled in this study between 2017 and 2022. The cardiac structure, function, strain, tissue characteristics on CMR and their evolutions during follow-up were analyzed. Three young female patients (3/7, 42.86%) exhibited normal cardiac morphology. Four patients (4/7, 57.14%) displayed left ventricle hypertrophy (LVH), and mostly with septal thickening (3/4, 75%). A single male case (1/7, 14.3%) showed decreased LV ejection fraction (LVEF). Nonetheless, the global LV strain of the four adult patients decreased in different degree. The global strain of adolescent male patients was decreased compared to the age-appropriate female patients. Five patients (5/7, 71.43%) exhibited late gadolinium enhancement (LGE), with proportion ranging from 31.6% to 59.7% (median value 42.7%). The most common LGE location was the LV free wall (5/5, 100%), followed by right ventricle insertion points (4/5, 80%) and intraventricular septum (2/5, 40%). Segmental radial strain (rs = -0.586), circumferential strain (r = 0.589), and longitudinal strain (r = 0.514) were all moderately correlated with the LGE proportions of corresponding segments (P < 0.001). T2 hyperintense and perfusion defect foci were identified, overlapping with the LGE areas. During follow-up, both the young male patients exhibited notable deterioration of their cardiac symptoms and CMR. The LVEF and strain decreased, and the extent of LGE increased year by year. One patient underwent T1 mapping examination. The native T1 value was sensitively elevated even in regions without LGE. Left ventricular hypertrophy, LGE with sparing or relatively less involved IVS, and LV dysfunction are prominent CMR features of Danon cardiomyopathy. Strain and T1 mapping may have advantages in detecting early-stage dysfunction and myocardial abnormalities in DD patients, respectively. Multi-parametric CMR can serve as an optimal instrument for detecting DD cardiomyopathies.

Magnetic Resonance Imaging Brain Findings in Chikungunya Virus (CHIKV) Infection with Neurological Complication during Epidemic Outbreak.

The Chikungunya virus is an alphavirus RNA of the family Togaviridae transmitted by the Aedes mosquito. We aim to report magnetic resonance imaging (MRI) brain findings for neurological complications at our institute during epidemic outbreak. A total of 43 seropositive cases of Chikungunya infection underwent MRI brain. Out of 43 patients, 27 (63%) had discrete and confluent supra-tentorial T2-weighted (T2W) and fluid-attenuated inversion recovery (FLAIR) hyper-intense white matter foci. A total of 14 patients (33%) showed multiple foci/areas of diffusion restriction, and four of these patients had infra-tentorial T2 & FLAIR hyper-intense foci with restricted diffusion. In three pediatric age group patients including two neonates, the pattern of involvement was diffuse white matter changes with restricted diffusion. In 30% cases, MRI was normal. Detection of focal or confluent white matter hyper-intense foci with restricted diffusion on MRI in patients presenting with fever and neurological symptoms has potential to conclude the diagnosis of Chikungunya encephalitis, especially in epidemic settings.

Dots and spots: A retrospective review of T2-hyperintense white matter lesions in pediatric patients with and without headache.

We aimed to determine if T2-weighted hyperintense white matter lesions (WMLs) on brain magnetic resonance imaging (MRI) occur more frequently in pediatric patients with migraine and other primary headache disorders compared to the general pediatric population. Small foci of T2 hyperintensity in the white matter are frequently identified on brain MRI during the workup of pediatric headache. Such lesions have been reported to be more common among adults with migraine versus adults without migraine; however, this association has not been well established in the pediatric population. We performed a retrospective cross-sectional single-center study of electronic medical records and radiologic studies, examining pediatric patients from 3 to 18 years old who underwent brain MRI between 2016 and 2021. Patients with existing intracranial disease or abnormalities were excluded. Patients with reports of headache were categorized. Imaging was reviewed to determine the number and location of WMLs. Headache-associated disability scores (Pediatric Migraine Disability Assessment) were noted, when available. Brain MRI of 248 patients with a diagnosis of headache (144 with migraine, 42 with non-migraine primary headache, and 62 with headache that could not be further classified) and 490 controls were reviewed. WMLs were encountered commonly among all study participants, with a prevalence of 40.5% (17/42) to 54.1% (265/490). There was no statistically significant difference comparing the number of lesions between each of the headache groups and the control group: migraine group versus control group median [interquartile range (IQR)], 0 [0-3] versus 1 [0-4], incidence rate ratio [95% confidence interval (CI)], 0.99 [0.69-1.44], p = 0.989, non-migraine headache group versus control group median [IQR], 0 [0-3] versus 1 [0-4], 0.71 [0.46-1.31], p = 0.156, headache not otherwise specified group versus control group median [IQR], 0 [0-4] versus 1 [0-4], 0.77 [0.45-1.31], p = 0.291. There was no significant correlation between headache-associated disability and the number of WMLs (0.07 [-0.30 to 0.17], rho [95% CI]). T2 hyperintense WMLs are common within the pediatric population and are not encountered more frequently in pediatric patients with migraine or other primary headache disorders. Thus, such lesions are presumably incidental and unlikely related to headache history.