Magnetic Resonance Imaging Characteristics of Autoimmune Glial Fibrillary Acidic Protein (GFAP) Astrocytopathy: A Pediatric Series in Southwest China.

Objective: To investigate and summarize the magnetic resonance imaging (MRI) manifestations of autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy in children. Methods: We retrospectively analyzed data from 17 pediatric patients with autoimmune GFAP astrocytopathy confirmed by the detection of GFAP autoantibodies in cerebrospinal fluid in our single-center. Furthermore, we reviewed current literature and summarized previous findings on the MRI characteristics of this disease in children. Results: In these 17 patients, the clinical manifestations and results of CSF analysis were suggestive of autoimmune disorder, with a good improvement. The lesions on MRI were most commonly located in the bilateral basal ganglia (70.6%), thalamus (64.7%), cerebral white matter (29.4%). 93.3% of the cerebral lesions were relatively scattered and small, 80% of the spinal lesions presented as longitudinally extensive ones. Both periventricular radial linear (PVRL) (53.8%) and punctate or linear enhancement in basal ganglia and thalamus (53.8%) were commonly observed, followed by the leptomeningeal enhancement (46.2% in the brain and 62.5% in the spinal cord). We then included 55 pediatric patients with MRI data from current literature in our analysis (n = 72, 44 males). Our results revealed similar MRI findings but the enhancement pattern between our series and previously published cases, that is, leptomeningeal enhancement in the brain 46.2% vs 31.4%, in spinal cord 62.5% vs 18.4%, and PVRL enhancement 53.8% vs 11.2%. There were no detailed reports on punctate or linear enhancement. Conclusion: The MRI characteristics of autoimmune GFAP astrocytopathy in children could be suggestive. Scattered and small lesions (especially punctate or linear) in the bilateral thalamus, basal ganglia, and white matter, as well as longitudinally extensive spinal cord lesions (if present), with punctate, PVRL and leptomeningeal enhancement might be a distinct indication for the early diagnosis of this disorder.

The value of cardiac magnetic resonance imaging in endocardial fibroelastosis.

Introduction: Endocardial fibroelastosis (EFE), an uncommon congenital heart disorder often occurring in infants, has a poor prognosis. It is of great significance to perform early diagnosis and accurately analyze cardiac function to enable further clinical treatment and prognosis decisions. This study aimed to explore the findings of cardiac magnetic resonance (CMR) in patients with EFE, including morphological changes and cardiac function analyses. Additionally, we compared the difference in the evaluation of the cardiac function between CMR and echocardiography (Echo). Methods: Eleven patients with EFE (nine females and two males, aged between 0.3 and 1.9 years), treated in our hospital, were analyzed retrospectively. Left ventricular posterior wall thickness (LVPW), anterior wall thickness (LVAW), fractional shortening (FS), ejection fraction (EF), end-systolic diameter (ESD), end-diastolic diameter (EDD), end-systolic volume (ESV), and end-diastolic volume (EDV) were assessed using both Echo and CMR. The Original Ross classification and the New York Heart Association functional classification were used to grade the patients' cardiac function. The correlations between clinical cardiac function classification and MRI- and Echo-derived imaging data were determined. Results: All patients showed a thickened endocardium and left ventricle globular dilatation on CMR. We observed significant systolic dysfunction and whole or segmental abnormal ventricular movement. Compared with those measured by Echo, the EF, FS, and EDV values were significantly lower when measured using CMR. Compared with Echo measurements, the ESV, ESD, LVAW, and LVPW values were significantly higher when measured using CMR. CMR-measured EF and FS correlated better with the clinical cardiac functional score than those derived from Echo (EF, r = 0.646 > 0.224; FS, r = 0.627 > 0.245, respectively). Conclusion: In patients with EFE, the characteristic morphological changes of the heart could be displayed accurately using CMR. The parameters measured by CMR were more accurate than those of Echo and correlated well with clinical cardiac function scores, mainly because it does not make invalid geometrical assumptions.

MRI Features of Stroke-Like Episodes in Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes.

Mitochondrial myopathy encephalopathy lactic acidosis and stroke-like episodes (MELAS) is an important cause of stroke-mimicking diseases that predominantly affect patients before 40 years of age. MELAS results from gene mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) responsible for the wide spectrum of clinical symptoms and imaging findings. Neurological manifestations can present with stroke-like episodes (the cardinal features of MELAS), epilepsy, cognitive and mental disorders, or recurrent headaches. Magnetic resonance imaging (MRI) is an important tool for detecting stroke-like lesions, accurate recognition of imaging findings is important in guiding clinical decision making in MELAS patients. With the development of neuroimaging technologies, MRI plays an increasingly important role in course monitoring and efficacy assessment of the disease. In this article, we provide an overview of the neuroimaging features and the application of novel MRI techniques in MELAS syndrome.

Diffuse leptomeningeal glioneuronal tumor without KIAA1549-BRAF fusion and 1p detection: a case report and review of literature.

BACKGROUND: Diffuse leptomeningeal glioneuronal tumor (DLGNT) is a rare mixed neuronal-glial tumor of central nervous system. Chromosome microarray usually identifies co-deletion of the short arm of chromosome 1 and the long arm of chromosome 19 as well as fusion of the KIAA1549 and BRAF genes. METHODS: We describe a case of a 3-year-old boy with typical imaging and histopathological features, but without KIAA1549-BRAF fusion and 1p deletion. Additionally, a literature review is performed summarizing the clinical features, management, and prognosis of this rare entity. RESULTS: A 3-year-old boy presented with chronic headache and vomiting. On initial MRI scanning, diffuse thickening with enhancement of the cerebral and spinal leptomeninges could be detected after contrast injection. Multiple cystic lesions were found located on infratentorial leptomeninges, with progressive thickening of leptomeninges and increasing cysts on follow-up MRI after 9 months. Meningeal biopsy was carried out, showing that most of tumor cells were composed of oligodendroglioma-like cells. The tumor cells were immunopositive for GFAP, Olig-2, and synaptophysin but negative for IDH-1 and H3k27M. Molecular genetic testing did not detect KIAA1549-BRAF fusion, 1p deletion, or 1p/19q co-deletion. The patient was finally diagnosed as DLGNT after multidisciplinary team consultation. CONCLUSIONS: Given that the clinical and pathological mechanism of DLGNTs remains unclear, our case gives supplement about the diversity of molecular genetic characteristics. Combination of clinical, neuroradiological, and histopathological data is particularly important for the diagnosis of DLGNTs, till now.

The diagnostic value of intravoxel incoherent motion imaging in differentiating high-grade from low-grade gliomas: a systematic review and meta-analysis.

OBJECTIVE: This meta-analysis was carried out for assessing the accuracy of intravoxel incoherent motion (IVIM) parameters true diffusion coefficient (D), pseudo-diffusion coefficient (D*), and perfusion fraction (f) in differentiating low-grade gliomas (LGGs) from high-grade gliomas (HGGs). METHODS: Literatures concerning IVIM in the grading of brain gliomas published prior to October 20, 2020, searched in the Embase, PubMed, and Cochrane library. Use the quality assessment of diagnostic accuracy studies 2 (QUADAS 2) to evaluate the quality of studies. We estimated the pooled sensitivity, specificity, and the area under the summary ROC (SROC) curve to identification the accuracy of IVIM parameters D, D*, and f evaluation in grading gliomas. RESULTS: Totally, 6 articles including 252 brain gliomas conform to the inclusion criteria. The pooled sensitivity of parameters D, D*, and f derived from IVIM were 0.85 (95%Cl, 0.76-0.91), 0.78 (95%Cl, 0.71-0.85), and 0.89 (95%Cl, 0.76-0.96), respectively. The pooled specificity were 0.78 (95%Cl, 0.60-0.90), 0.68 (95%Cl, 0.56-0.79), and 0.88 (95%Cl, 0.76-0.94), respectively. Meanwhile, the AUC of SROC curve were 0.89 (95%Cl, 0.86-0.92) , 0.81 (95%Cl, 0.77-0.84), and 0.94 (95%Cl, 0.92-0.96), respectively. CONCLUSION: This meta-analysis suggested that IVIM parameters D, D*, and f have moderate or high diagnosis value accuracy in differentiating HGGs from LGGs, and the parameter f has greater sensitivity and specificity. Standardized methodology is warranted to guide the use of this method for clinical decision-making. However, more clinical studies are needed to prove our view. ADVANCES IN KNOWLEDGE: IVIM parameter f showed greater sensitivity and specificity, as well as excellent performance than parameter D* and D.