Search Results (21)

Background: Cognitive impairment is a common and clinically significant complication in patients undergoing peritoneal dialysis, a vulnerable population with multiple comorbidities. However, its underlying determinants remain incompletely understood. Vascular calcification, as a marker of systemic vascular pathology, has been suggested to be associated with cognitive dysfunction. This study aimed to evaluate the relationship between intracranial and valvular calcification and cognitive dysfunction in peritoneal dialysis patients. Methods: This single-center cross-sectional study included patients receiving peritoneal dialysis. Cognitive function was assessed using the Montreal Cognitive Assessment (MoCA). Intracranial and valvular calcifications were determined based on imaging findings. Clinical, demographic, and laboratory parameters were analyzed. Logistic regression analysis was used to identify factors associated with cognitive dysfunction, and receiver operating characteristic (ROC) analysis was performed to assess discriminative performance. Results: A total of 95 patients were included. Patients with cognitive dysfunction were older and more frequently female. In univariate analysis, age, female sex, and mitral valve calcification were significantly associated with cognitive dysfunction. After multivariable adjustment, only age (OR: 1.06, p = 0.02) and female sex (OR: 3.4, p = 0.03) remained independently associated. ROC analysis showed limited discriminative performance (AUC: 0.63). Conclusions: Calcification parameters were associated with cognitive dysfunction in unadjusted analyses but did not remain independent predictors after adjustment. Age was the strongest factor associated with cognitive dysfunction, while female sex was also independently associated with increased risk. These findings suggest that calcification burden may reflect cumulative vascular aging and comorbidity rather than serving as a standalone predictor of cognitive impairment. Full article

Background and Clinical Significance: CTC1-related cerebroretinal microangiopathy with calcifications and cysts (CRMCC), or Coats-plus syndrome, is an extremely rare autosomal recessive telomere-dysfunction disorder. A total of 29 cases in 15 reports have been reported in the English literature. The primary imaging characteristics include leukoencephalopathy, intracranial calcifications, and parenchymal cysts. Case Presentation: We describe a patient with CRMCC, who presented with a large intracranial cystic mass and basal ganglia calcifications, with imaging findings strongly mimicking a primary CNS tumor. The patient underwent multiple surgeries with inconclusive biopsies. Ultimately, it took five years and the collaboration of several specialists to arrive at the final diagnosis. Furthermore, we present dedicated clinical 7T orbit MRI findings on the patient’s brother, who has the same disease. Conclusions: We present a rare case of CRMCC with lack of overt leukoencephalopathy at presentation and absence of characteristic extracranial/extraocular manifestations, significantly complicating diagnosis. Furthermore, to the best of our knowledge, we share the first reported clinical 7T orbital MRI in the pediatric population. Full article

Background and Clinical Significance: Juvenile nasopharyngeal angiofibroma (JNA) is a benign but locally aggressive vascular tumor, classically affecting adolescent males. Diagnosis in adulthood is exceptionally uncommon and may mimic other vascular or malignant nasopharyngeal lesions. This patient also had chronic hypocalcemia with Fahr-like intracranial calcifications secondary to long-standing postoperative hypoparathyroidism after thyroid carcinoma treatment. To our knowledge, this coexistence has not been previously reported. Case Presentation: A 34-year-old Caucasian male with papillary thyroid carcinoma treated with total thyroidectomy developed postoperative hypoparathyroidism with chronic hypocalcemia and Fahr-like intracranial calcifications. During admission for acute respiratory insufficiency due to tracheostomy dysfunction, imaging revealed a 37 × 33 × 32 mm heterogeneous, hypervascular nasopharyngeal mass extending into the right pterygopalatine fossa (PPF) with bone remodeling and focal bony dehiscence. Digital subtraction angiography demonstrated a markedly hypervascular tumor, predominantly supplied by branches of the right internal maxillary artery (via the sphenopalatine artery). Endoscopic resection was performed, and histopathology confirmed JNA. Most JNA cases occur between 7 and 19 years of age; presentations in men older than 30 years are rare and often generate diagnostic uncertainty, particularly when differentiating from nasopharyngeal carcinoma or other lesions. In adults, magnetic resonance imaging/computed tomography for assessment of local extent and angiography for vascular mapping are key to minimizing hemorrhagic risk. The concurrent endocrine disorder emphasizes the need for multidisciplinary perioperative metabolic optimization, without implying a pathophysiological link. Conclusions: This report illustrates JNA diagnosed in adulthood in a male with Fahr-like intracranial calcifications secondary to chronic hypoparathyroidism. It highlights the necessity of considering JNA in the differential diagnosis of hypervascular nasopharyngeal masses in adults, especially in patients with complex comorbidities. Full article

Purpose: This study proposes a novel magnetic resonance (MRI)-based classification of cortical tubers (CTs) in tuberous sclerosis complex (TSC) patients that incorporates intralesional calcifications. We evaluated prevalence, temporal evolution, and genotype correlation of intra-tuberal calcifications in pediatric TSC patients, emphasizing susceptibility-weighted imaging (SWI) for detection. Materials and Methods: We retrospectively analyzed MRI scans of 57 unrelated pediatric TSC patients followed between 2014 and 2024 at a tertiary care center. Inclusion criteria included longitudinal imaging on the same 1.5T scanner, with T1w, T2w/FLAIR, and SWI sequences. CTs were classified into four MRI-based categories (A–D), with calcified tubers subdivided into micro-calcified and macro-calcified. Descriptive statistics, binomial tests, and Chi-square analyses were performed. Results: Calcified CTs were more prevalent than cystic ones. At baseline MRI, 63% of patients had calcified tubers (19% of all CTs), increasing to 77% at follow-up MRI (24% of all CTs). Micro-calcifications predominated at baseline MRI evaluation, though a significant proportion progressed to macro-calcifications over time. Calcified CTs always progressed from lower-grade lesions. Cystic tubers were rare (<1%). Longitudinal analysis showed significant variation in CTs with inner calcification count (p = 0.0000023), but not in CTs with cystic components (p = 0.42072). No significant genotype–radiological phenotype association emerged. Conclusions: Intralesional calcifications in CTs are dynamic and detectable with SWI. The inclusion of calcification patterns in CT classification could offer insights that may prove useful for future prognostic and risk-stratification frameworks in pediatric TSC. Full article

Contrast-induced encephalopathy (CIE) is a rare complication after percutaneous coronary intervention (PCI) that mimics intracranial hemorrhage (ICH). Its computed tomography (CT) findings (cortical contrast enhancement, sulci effacement) overlap with cerebrovascular conditions (e.g., cerebral infarction, subarachnoid hemorrhage). Dual-energy CT (DECT) differentiates blood/calcification from iodinated contrast medium (CM) extravasation via material decomposition, contributing to the accurate diagnosis of CIE. We report a CIE case highlighting DECT’s value. A 74-year-old woman underwent PCI. 50 min post-PCI, she had moderate headache (Numeric Rating Scale 4), dizziness, non-projectile vomiting (no seizures); vital signs were stable, no focal deficits, mannitol ineffective. Non-contrast CT demonstrated a left parietal 75 Hounsfield unit (HU) high-attenuation lesion, indistinguishable from acute intracerebral hemorrhage. Conventional non-contrast CT revealed a high-attenuation lesion (75 HU) in the left parietal lobe—indistinguishable from ICH. DECT clarified the diagnosis: virtual non-contrast maps showed CM extravasation, iodine concentration maps confirmed focal CM accumulation, and effective atomic number maps improved lesion visualization. The patient’s headache resolved within 5 h; follow-up non-contrast CT at 24 h showed complete disappearance of the lesion. She resumed clopidogrel, discharged day 3 without sequelae. This case underscores DECT’s role in distinguishing CIE (transient CM, normal neuro exam) from ICH (persistent hemorrhage), guiding safe post-PCI antiplatelet therapy. Full article

Background: Intracranial artery calcification detected on CT imaging is a recognized risk factor for ischemic cerebrovascular diseases, but the underlying etiology of this association remains unclear. Differences in objective morphometric characteristics of these calcifications may partially explain this association, yet these measurements are largely absent in the literature. We investigated intracranial artery calcification morphometry in patients with recent anterior ischemic stroke or TIA, assessing potential differences between calcifications in both intracranial carotid arteries (ICAs) located ipsilateral and contralateral to the cerebral ischemia. Methods: Among 100 patients (mean age 69.6 (SD 8.8) years) presenting to academic neurology departments, 3D reconstructions of both ICAs were based on clinical CT-angiography images. On these reconstructions, a luminal centerline and cross-sections perpendicular to this centerline were created, facilitating the assessment of calcification morphometry, spatial orientation and stenosis severity. Differences in calcification characteristics between ICAs were assessed using two-sided Wilcoxon signed-rank and χ² tests. Results: Among 200 arteries, a median of four (IQR 2–6) individual calcifications were counted, with a mean area of 1.8 (IQR 1.2–2.7) mm², a mean arc width of 43.5 (IQR 32.3–53.2) degrees, and median longitudinal extent of 15.4 (IQR 5.9–27.0) mm. Calcifications were most often present in the anatomical C4 section (56.0%), with predominantly posterosuperior orientation (38.5%) and 42.0% had a local stenosis severity > 70%. None of these aspects significantly differed between ICAs, and this remained after restricting analyses to patients with undetermined etiology. Conclusions: We found no differences in morphometrical or spatial aspects of calcifications between ICAs ipsilateral and contralateral to the cerebral ischemia. Full article

Meningiomas arise from the meningeal layers covering the central nervous system structures. Although most are benign, meningiomas can still cause neurological morbidity due to the mass effect and compression of the surrounding parenchyma. The prognosis also depends on several factors such as growth pattern or location. Morphological imaging approaches, such as MRI and CT, that emphasize intracranial calcifications, vascular patterns, or invasion of major vessels act as the basis of the diagnosis; PET/CT imaging is a valuable diagnostic tool for assessing somatostatin receptor activity in tumors. It enables the visualization and quantification of somatostatin receptor expression, providing insights into tumor biology, receptor status, and potential therapeutic targets. Aside from radiosurgery and neurosurgical intervention, peptide receptor radionuclide therapy (PRRT) has also shown promising results. Somatostatin receptors 1 and 2 are nearly universally expressed in meningioma tissue. This characteristic is increasingly exploited to identify patients eligible for adjuvant therapy using DOTA-conjugated somatostatin receptor-targeting peptides PET. In the treatment of relapsed/refractory meningiomas, PRRT is increasingly considered a safe and effective therapeutic option. It is often supported by artificial intelligence strategies for dose optimization and side-effect monitoring. The objective of this study is to evaluate the safety and benefits of these strategies based on the latest findings. Full article

Thalassemia, once associated with limited survival, now sees extended life expectancy due to treatment advancements, but new complications such as pseudoxanthoma elasticum (PXE)-like syndrome are emerging. In fact, thalassemia patients develop PXE-like features more frequently than the general population. These features include skin lesions, ocular changes, and vascular issues like arterial calcifications, all linked to oxidative damage from iron overload. PXE-like syndrome in thalassemia mimics inherited PXE but is acquired. The underlying cause is thought to be oxidative stress due to iron overload, which induces free radicals and damages elastic tissues. Unlike inherited PXE, this form does not involve mutations in the ABCC6 gene, suggesting different pathogenic mechanisms, including abnormal fibroblast metabolism and oxidative processes. The vascular calcification seen in this syndrome often follows elastic fiber degeneration, with proteoglycans and glycoproteins acting as nucleation sites for mineralization. The condition can lead to severe cardiovascular and gastrointestinal complications. Studies have shown a significant incidence of PXE-like skin lesions in thalassemia patients, with some dying from cardiovascular complications. Research on ABCC6, a transporter protein involved in ectopic mineralization, has highlighted its role in various conditions, including PXE, beta-thalassemia, and generalized arterial calcification of infancy. ABCC6 mutations or reduced expression led to ectopic mineralization, affecting cardiovascular, ocular, and dermal tissues. The exact molecular mechanisms linking ABCC6 deficiency to ectopic mineralization remain unclear, though it is known to influence calcification-modulating proteins. This review focuses on the role of ABCC6 in the pathogenesis of calcifications, especially intracranial vascular calcifications in PXE and beta-thalassemia. Full article

This retrospective cohort study analyzed 7870 pregnant women, including 2269 with confirmed Zika virus (ZIKV) infection and 5601 without Zika infection, along with their fetuses and newborns. Data were sourced from multiple databases in the state of Rio de Janeiro, Brazil. A propensity score model was employed to control confounding factors and stratify outcomes by pregnancy trimester. Among ZIKV+ pregnant women, 49 cases of congenital microcephaly or congenital nervous system (CNS) abnormalities were identified (2.16%, or 193.9 cases in 10,000 live births), whereas 44 cases were identified among ZIKV− women (0.78%, or 71.4 cases in 10,000 live births). Multivariable analysis yielded an odds ratio of 2.46 (95% CI 1.30–4.64) overall, with 4.29 (95% CI 1.93–9.53) in the first trimester, 5.29 (95% CI 1.08–25.95) in the second trimester, and 0.68 (95% CI 0.21–2.14) in the third trimester. The most frequent findings among ZIKV+ cases included intracranial calcifications, ventriculomegaly, posterior fossa malformations, reduced brain volume, corpus callosum malformations, cortex dysplasia, lissencephaly, and pachygyria. Ophthalmologic abnormalities were detected in 55.5% of cases, and brainstem auditory evoked potential anomalies were reported in 33.3%. ZIKV infection can result in structural or functional anomalies. Given the absence of specific treatment for congenital Zika syndrome (CZS), clinical care should prioritize monitoring and managing neurological, motor, auditory, visual, and orthopedic disorders in all children with in utero ZIKV exposure, especially during the first and second trimesters of pregnancy. Full article

Intracranial calcifications, particularly within the falx cerebri, serve as crucial diagnostic markers ranging from benign accumulations to signs of severe pathologies. The falx cerebri, a dural fold that separates the cerebral hemispheres, presents challenges in visualization due to its low contrast in standard imaging techniques. Recent advancements in artificial intelligence (AI), particularly in machine learning and deep learning, have significantly transformed radiological diagnostics. This study aims to explore the application of AI in the segmentation and detection of falx cerebri calcifications using Cone-Beam Computed Tomography (CBCT) images through a comprehensive literature review and a detailed case report. The case report presents a 59-year-old patient diagnosed with falx cerebri calcifications whose CBCT images were analyzed using a cloud-based AI platform, demonstrating effectiveness in segmenting these calcifications, although challenges persist in distinguishing these from other cranial structures. A specific search strategy was employed to search electronic databases, yielding four studies exploring AI-based segmentation of the falx cerebri. The review detailed various AI models and their accuracy across different imaging modalities in identifying and segmenting falx cerebri calcifications, also highlighting the gap in publications in this area. In conclusion, further research is needed to improve AI-driven methods for accurately identifying and measuring intracranial calcifications. Advancing AI applications in radiology, particularly for detecting falx cerebri calcifications, could significantly enhance diagnostic precision, support disease monitoring, and inform treatment planning. Full article

(1) Background: Primary Familial Brain Calcification (PFBC) is a neurodegenerative disease characterized by bilateral calcifications of the basal ganglia and other intracranial areas. Many patients experience symptoms of motor dysfunction and cognitive disorders. The aim of this study was to investigate the association between the amount and location of intracranial calcifications with these symptoms. (2) Methods: Patients with suspected PFBC referred to our outpatient clinic underwent a clinical work-up. Intracranial calcifications were visualized on Computed Tomography (CT), and a Total Calcification Score (TCS) was constructed. Logistic and linear regression models were performed. (3) Results: Fifty patients with PFBC were included in this study (median age 64.0 years, 50% women). Of the forty-one symptomatic patients (82.0%), 78.8% showed motor dysfunction, and 70.7% showed cognitive disorders. In multivariate analysis, the TCS was associated with bradykinesia/hypokinesia (OR 1.07, 95%-CI 1.02–1.12, p < 0.01), gait ataxia (OR 1.06, 95%-CI 1.00–1.12, p = 0.04), increased fall risk (OR 1.04, 95%-CI 1.00–1.08, p = 0.03), and attention/processing speed disorders (OR 1.06, 95%-CI 1.01–1.12, p = 0.02). Calcifications of the lentiform nucleus and subcortical white matter were associated with motor and cognitive disorders. (4) Conclusions: cognitive and motor symptoms are common among patients with PFBC, and there is an association between intracranial calcifications and these symptoms. Full article

Background: Aicardi–Goutières syndrome (AGS) is a rare genetic disorder characterized by microcephaly, white matter lesions, numerous intracranial calcifications, chilblain skin lesions and high levels of interferon-α (IFN-α) in the cerebrospinal fluid (CSF). However, ocular involvement is reported significantly less frequently. Case presentation: We present a case of a neonate with hypotrophy, microcephaly, frostbite-like skin lesions, thrombocytopenia, elevated liver enzymes and hepatosplenomegaly. Magnetic resonance imaging (MRI) of the brain showed multiple foci of calcification, white matter changes, cerebral atrophy, and atrophic dilatation of the ventricular system. The inflammatory parameters were not elevated, and the infectious etiology was excluded. Instead, elevated levels of IFN-α in the serum were detected. Based on the related clinical symptoms, imaging and test findings, the diagnosis of AGS was suspected. Genetic testing revealed two pathogenic mutations, c.490C>T and c.222del (novel mutation), in the three prime repair exonuclease 1 (TREX1) gene, confirming AGS type 1 (AGS1). An ophthalmologic examination of the child at 10 months of age revealed an impaired pupillary response to light, a corneal haze with Haab lines in the right eye (RE), pale optic nerve discs and neuropathy in both eyes (OU). The intraocular pressure (IOP) was 51 mmHg in the RE and 49 in the left eye (LE). The flash visual evoked potential (FVEP) showed prolonged P2 latencies of up to 125% in the LE and reduced amplitudes of up to approximately 10% OU. This girl was diagnosed with congenital glaucoma, and it was managed with a trabeculectomy with a basal iridectomy of OU, resulting in a reduction and stabilization in the IOP to 12 mmHg in the RE and 10 mmHg in the LE without any hypotensive eyedrops. Conclusions: We present the clinical characteristics, electrophysiological and imaging findings, as well as the genetic test results of a patient with AGS1. Our case contributes to the extended ophthalmic involvement of the pathogenic c.490C>T and c.222del mutations in TREX1. Full article

Background and objectives: Vascular calcification is an integral part of atherosclerosis and has been reported to be an independent risk factor for cardiovascular diSsease. Intra Cranial Arterial Calcifications (ICAC) in maintenance hemodialysis (MHD) is highly prevalent. Materials and Methods: The aim of this retrospective study was to assess the predictors and outcomes of ICAC in MHD patients compared to a control group without kidney disease. A blinded neuroradiologist graded ICAC in brain imaging (computerized tomography) of MHD patients. Age- and sex-matched patients with normal kidney function served as the control group. Results: A total of 280 patients were included in the cohort; 140 of them were MHD patients with a mean ICAC score of 2.3 ± 0.2 versus a mean ICAC score of 1.4 ± 0.2 in the control group (p < 0.01). More than 90% of hemodialysis patients in our study had some degree of ICAC. Lower albumin and higher phosphorus and CRP levels were associated with increased ICACs. The multivariate analysis model for predictors of 1-year mortality demonstrated an increased odds ratio for mortality as the ICAC score increased. Conclusions: ICAC is very prevalent among MHD patients and results not simply from passive deposition of calcium and phosphate but rather from complex and active processes involving inflammation and structural changes in blood vessels. ICAC independently predicted all-cause mortality and may help with risk stratification of this high-risk population. Full article

(1) Background: bridging revascularization therapy is now the standard of care in patients with ischemic stroke due to large vessel occlusion. This study aimed to determine the frequency of symptomatic intracranial hemorrhage (sICH) related to this treatment, and to assess contributing factors and patients’ outcomes. (2) Methods: consecutive ischemic stroke patients treated with bridging therapy were prospectively enrolled. sICH (intracranial hemorrhage with an increase in NIHSS score of ≥4 points) was assessed on imaging at 24 h. The functional status of patients was measured at 6 months using the mRS score; (3) Results: 176 patients were included (mean age 68.7 ± 1.2 years, 52.3% women), among whom 15 (8.5%) had sICH. Patients with sICH had more frequent alcohol abuse (30.1% versus 9.7%, p = 0.023), prestroke use of dual antiplatelet therapy (14.3% versus 1.3%, p = 0.002), higher NIHSS scores at admission (median score 20.5 versus 15, p = 0.01), greater systolic blood pressure upon admission, more frequent vascular intracranial calcifications (p = 0.004), leukoaraiosis (p = 0.001), and intracranial atheroma (p = 0.02), and higher neutrophil-to-lymphocyte ratios (p = 0.02) and neutrophil-to-platelet ratios (p = 0.04). At 6-month follow-up, 9 (60%) patients with sICH died, versus 18% of patients without sICH (p < 0.001). Only 1 (7%) patient with sICH had a good functional outcome, defined as an mRS score of 0 to 2, versus 51% of patients without sICH. (4) Conclusions: one in twelve ischemic stroke patients treated with bridging therapy suffered sICH. Given the observed poor outcomes after sICH, further studies are required to better identify patients at risk to help clinicians in guiding therapeutic strategies. Full article

Meningioangiomatosis (MA) is a rare hamartomatous or meningovascular lesion involving the central nervous system, and is sometimes associated with intracranial meningiomas. Calcifying pseudoneoplasms of the neuraxis (CAPNON) are rare, slow-growing benign tumor-like lesions that can occur anywhere along the neuraxis. Here, we report a rare case of MA combined with CAPNON. A 31-year-old woman was admitted to our hospital because of a high-density mass in the left frontal lobe, detected by computed tomography (CT) during a physical examination. She had a 3-year history of obsessive–compulsive disorder. We describe the imaging, histopathological, and molecular characteristics of the patient. To our knowledge, this is the first report describing MA combined with CAPNON. We reviewed the literature on MA and CAPNON over the last decade and summarized the points for differential diagnosis and treatment. It is difficult to preoperatively distinguish between MA and CAPNON. However, this coexisting condition should be considered when intra-axial calcification lesions are observed on radiological imaging. Accurate diagnosis and appropriate treatment are likely to benefit this patient group. Full article