Background/Objectives: Assessing structural damage in pediatric sacroiliitis is challenging, necessitating radiation-free alternatives to computed tomography (CT). This study evaluated the diagnostic performance of advanced MRI sequences-3D-MENSA (Multi-Echo in Steady-State Acquisition), 3D-MERGE (Multiple-Echo Recombined Gradient Echo), and Zero Echo Time (ZTE)-against conventional T1-weighted sequences for detecting structural lesions. Low-dose computed tomography (LDCT) served as the reference standard. A secondary objective was to qualitatively assess the visibility of active inflammatory lesions and fat metaplasia. Methods: In this cross-sectional study, 23 pediatric patients with enthesitis-related arthritis (ERA) were included. To adhere strictly to radiation safety principles, the study used pre-existing ldCT datasets from a clinical cohort as the reference standard. No new CT scans were performed for this study. Structural lesions (erosions, sclerosis, and joint-space changes) were independently scored by two blinded radiologists. Interobserver agreement was assessed using intraclass correlation coefficients (ICC). Results: Advanced sequences (ZTE, 3D-MENSA, 3D-MERGE) demonstrated high agreement with ldCT for erosion detection (ICC range: 0.924-0.998) and significantly outperformed conventional T1-weighted MRI (ICC: 0.707). 3D-MENSA provided distinct contrast, effectively differentiating the ligamentous component of the sacroiliac joint from both the synovial component and the adjacent bone cortex. Qualitatively, 3D-MENSA also identified bone marrow edema and fat metaplasia, which cannot be visualized by ZTE or ldCT. Conclusions: 3D-MENSA and 3D-MERGE enable comprehensive evaluation of structural sacroiliitis lesions in pediatric patients with diagnostic accuracy comparable to ldCT. Specifically, 3D-MENSA demonstrates the potential to detect both active and chronic lesions in a single, rapid, radiation-free acquisition. These findings suggest that it should be considered for routine pediatric imaging protocols.

Preoperative differentiation of Wilms tumor and neuroblastoma on pediatric abdominal computed tomography (CT) images may be challenging because of overlapping imaging features. We aimed to develop an artificial intelligence-assisted lesion-localization model for exploratory diagnostic support in this differential setting. In this single-center, retrospective, image-level study, a YOLO26s detector was trained on preoperative contrast-enhanced CT PNG images with histopathology-anchored labels. The dataset comprised 3553 images, including 2103 lesion-positive images and 1450 background-negative images, partitioned into training, validation, and test subsets. On the held-out test set, the model achieved a precision of 0.954, a recall of 0.951, an mAP@0.5 of 0.977, and an mAP@0.5:0.95 of 0.732. Class-specific mAP@0.5:0.95 values were 0.734 for neuroblastoma and 0.730 for Wilms tumor. At the image level, tumor-present versus background-negative discrimination yielded 99.5% sensitivity, 89.0% specificity, a 93.0% positive predictive value, a 99.2% negative predictive value, and 95.3% accuracy. YOLO26s showed strong within-dataset performance for lesion localization and differential support between Wilms tumor and neuroblastoma.

Background/Objectives: This study evaluated automated magnetic resonance imaging (MRI) volumetry for characterizing structural brain changes in Alzheimer’s disease (AD), mild cognitive impairment (MCI), and cognitively healthy controls (HC), and examined its association with cognitive performance. Methods: This retrospective observational study included consecutively enrolled individuals aged ≥65 years. AD dementia and MCI were diagnosed according to the 2011 National Institute on Aging–Alzheimer’s Association (NIA-AA) clinical criteria. Automated volumetric analysis of structural MRI was used to obtain the total intracranial volume-normalized cortical and subcortical volumes, cerebrospinal fluid (CSF) compartments, and hemispheric asymmetry indices. Between-group comparisons were corrected using the Benjamini–Hochberg false discovery rate. Prespecified volumetric markers were evaluated using receiver operating characteristic analysis and internally validated logistic regression models. Results: The study included 102 participants (34 per group). Compared with HC, the AD group showed lower total cerebrum, right hippocampal, and anterior cingulate gyrus (ACgG) volumes and higher CSF volumes. Compared with MCI, the AD group exhibited lower thalamic and caudate volumes. CSF volume showed the highest individual discriminative performance for differentiating AD from HC (AUC = 0.837), whereas the combined hippocampal–ACgG–CSF model showed the best performance for differentiating MCI from HC (AUC = 0.826). After adjustment for diagnostic group, cognitive performance remained positively associated with hippocampal volume and negatively with CSF and lateral ventricular volumes. Conclusions: Automated MRI volumetry may support the quantitative assessment of neurodegeneration in clinically defined AD and MCI. Combined volumetric markers improved discrimination between MCI and HC, although these findings require external validation in larger, longitudinal, biomarker-characterized cohorts.

Seronegative autoimmune encephalitis (SNAE) is an increasingly recognized entity in pediatric neurology, yet quantitative neuroimaging data remain scarce. This study aimed to evaluate regional brain volumetric differences between children diagnosed with SNAE and age- and sex-matched healthy controls using automated MRI volumetry. Fifteen children with SNAE (median age 12 years; 9 males, 6 females) and 45 age- and sex-matched healthy controls were enrolled. Three-dimensional T1-weighted MRI data were processed using the volBrain automated brain volumetry pipeline. Whole brain, grey matter, white matter, and subcortical structure volumes (thalamus, putamen, caudate, pallidum, hippocampus, amygdala, cerebellum, and brainstem) were compared between groups. Receiver operating characteristic (ROC) curve analysis was performed to determine the discriminative value of significantly different volumetric parameters. Patients with SNAE demonstrated significantly lower absolute grey matter, thalamus, putamen, and pallidum volumes compared with healthy controls after Bonferroni correction. Following ICV-normalization, only putamen and pallidum volumes remained significantly reduced in the patient group. ROC analyses demonstrated significant discriminative performance for several volumetric parameters, with putamen showing the numerically highest AUROC among absolute volumetric measures (AUROC = 0.875) and pallidum showing the highest AUROC among ICV-normalized measures (AUROC = 0.769). Pairwise DeLong comparisons revealed that the ROC performances of these parameters were statistically indistinguishable within this sample. Automated brain volumetry may provide quantitative information complementary to conventional MRI evaluation in pediatric SNAE. Larger prospective studies are needed to validate the clinical significance of these findings.

Objective: This study investigated the utility of low-dose CT (ldCT) compared with MRI in diagnosing sacroiliitis in enthesitis-related arthritis (ERA) patients. Methods: Thirty patients diagnosed with ERA were evaluated, with a median follow-up of 1.47 years. Images from patients were examined by two paediatric radiologists. For each patient, we assessed the density changes on ldCT at corresponding locations, employing the signal intensity observed on MRI across each joint surface as a reference. While measurements in areas without oedema on MRI showed relatively high density, measurements in areas with oedema on MRI showed relatively low density. Results: MRI revealed bilateral bone marrow oedema in 22 (73.3%) patients. During the ldCT evaluation of the right iliac crest, lower density was identified on ldCT in regions displaying heightened signal intensity on MRI in 20 (66.6%) patients. On the right sacral side, lower density was observed in the ldCT of 22 (73.3%) patients. Moving to the left iliac crest, 18 (60%) patients displayed a lower density. On the left sacral side, lower density was identified on ldCT in 22 (73.3%) patients. Erosion was detected in 23 patients on ldCT, whereas only 11 patients showed erosion on MRI. Conclusions: This study suggests that ldCT is superior to MRI for early structural change detection. Pixel-based density evaluation in ldCT aligns with MRI for bone marrow oedema. Advances in knowledge: The present study showed that ldCT is superior to MRI for early structural change detection. Pixel-based density evaluation in ldCT aligns with MRI findings for bone marrow oedema.

OBJECTIVES:The aim was to construct a reliable working model for patients with placenta previa (PP) that aids in the prediction of postpartum bleeding potential with data from antenatal imaging studies using both ultrasound (US) and magnetic resonance imaging (MRI). MATERIAL AND METHODS:Forty-three patients with PP were evaluated initially with the US and then by 3-Tesla MRI. The Placenta Accreata Index (PAI) was used during the US evaluation in order to define the risks. Uterine bulging, heterogeneous signal, dark placental bands, focal interruption of myometrium and tenting of bladder wall were regarded as predictive criteria in MRI evaluation. The correlation between the findings from US and MRI studies and subsequent haemorrhage, < 1000 mL, > 1000 mL and severe haemorrhage ( > 2000 mL) and massive transfusion [ > 5 units of red blood cells (RBC)] were used to build this predictive model. The findings from the imaging studies were also confirmed histopathologically. RESULTS:In the multivariate analysis of data from patients stratified by bleed size either < 1000 mL or > 1000 mL, none of the MRI and ultrasound findings were found to be predictive. The multivariate analysis was done using the second stratification cut-point of 2000 mL, in patients bleeding > 2000 mL PAI values [OR: 2.3 (1.4-3.8)] and overall MRI reported placenta accreata spectrum [OR: 4.9 (1.8-12.9)] were found to be predictive. While MRI findings were not discriminative between transfusion groups, grade 3 loculation on US examination was found to be predictive for the need of transfusion of > 5 units [OR: 67.5 (8.2-549.4)]. There were no cases needing hysterectomy. CONCLUSIONS:Ultrasound and MRI findings in cases of PP can be helpful in predicting postpartum bleeding.

PURPOSE:Simple epididymal cysts (EC) are rare in childhood and are mostly diagnosed at puberty. Although there is no consensus on the treatment, a conservative approach is generally preferred. To evaluate patients diagnosed with EC at our clinic in terms of presenting symptoms, diagnosis, and treatment methods. MATERIALS AND METHODS:Data of patients treated for epididymal cysts at our institution between March 2012 and March 2023 were retrospectively analyzed in terms of age, symptomatology, diagnostic method, treatment method, and outcomes. In all cases, the diagnosis of EC was based on physical examination with scrotal ultrasonography (US) confirmation. RESULTS:A total of 1829 patients underwent scrotal Doppler US, and EC was detected in 72 patients (10.7%). The median follow-up period of the 43 patients was 21.7 (6-80 months). Of these, 9 were bilateral (12.5%). The mean age of the patients at presentation was 14.8 years. Forty-one patients had scrotal pain, 12 had scrotal swelling, and 19 incidentally had EC. The cysts were between 1.2- 37 mm. Only 3 (4.1%) patients required surgical excision due to persistent pain. CONCLUSION:EC is a benign lesion, and treatment approaches are usually conservative. Surgical excision is recommended for patients with persistent scrotal pain or an acute scrotum.

BACKGROUND:Approximately 5%-10% of Familial Mediterranean Fever (FMF) patients fail to achieve full disease control despite adequate colchicine therapy and these patients may be vulnerable for lung involvement. OBJECTIVES:This study aimed to examine pulmonary findings on thoracic computerized tomography (CT) in children with colchicine-resistant FMF (crFMF), and their correlation with clinical characteristics regarding pulmonary involvement in childhood FMF is not well understood, and there is a lack of research specifically evaluating crFMF cases. METHODS:This cross-sectional study investigated pulmonary findings in 31 patients diagnosed with crFMF, focusing on thoracic CT scan findings and respiratory symptoms such as dry cough, shortness of breath, and exercise intolerance. The study further incorporated spirometry evaluations to assess pulmonary functions. RESULTS:Of the patients, 29.1% had normal thoracic CT scans, whereas 70.9% showed abnormalities, with nodules being the most common finding (61.2%). One patient demonstrated subpleural honeycombing and bilateral ground-glass opacities, indicating FMF-related interstitial lung disease (ILD). Chest pain was the predominant symptom during the attacks (70.9%), while shortness of breath persisted most frequently. While 32% of the patients had abnormal values of spirometry at postattack period, the rate was 14.2% when they were clinically stable. There was an increase at mean forced expiratory flow at 25%-75% of FVC (FEF25-75) at the stable phase. (83.1 ± 19.2 vs. 92.2 ± 21.6, p = 0.05). No significant differences in CT findings were noted between genotypes and ISSF scores. CONCLUSIONS:The study highlights a high prevalence of radiological findings in patients with crFMF; notably, a case with findings suggestive of FMF-related interstitial lung involvement was defined. Respiratory symptoms and abnormal values at spirometry were frequently accompanied by FMF attacks. These findings underscore the need for respiratory evaluation thoroughly in patients with crFMF to detect subclinical or overt pulmonary involvement and to guide appropriate management strategies.

Enthesitis-related arthritis (ERA), a subset of juvenile idiopathic arthritis (JIA), is characterized by frequent involvement of the sacroiliac (SI) joints. The aim of this study was to assess the effectiveness of zero echo time (ZTE) magnetic resonance imaging (MRI) in identifying structural lesions in patients with ERA. Conventional MRI pulse sequences often struggle to adequately visualize osseous and calcified tissues. All MRI examinations were conducted using a 1.5-T (T) scanner. The MRI protocol included standard sequences such as fat-suppressed axial T2-weighted, axial T1-weighted, coronal short tau inversion recovery (STIR), and axial T2-weighted sequences. In addition to conventional MRI, a ZTE sequence was employed. Low-dose computed tomography (CT) served as the reference standard and was performed using a 640-multislice CT device. Structural lesions, including erosions, sclerosis, and changes in joint space, were compared between imaging modalities. A total of 20 patients were included in the study (12 boys, 8 girls), with a median age at diagnosis of 14 years. ZTE-MRI demonstrated similar sensitivity to low-dose CT in detecting erosion (7 vs 8, P = 0.707). The interclass correlation coefficient (ICC) between low-dose CT and ZTE-MRI was 0.993 (P < 0.001), indicating excellent agreement. Moreover, ZTE-MRI showed strong agreement with low-dose CT in detecting sclerosis (ICC = 0.954, P < 0.001) and changes in joint space (ICC = 0.998, P < 0.001). Zero echo time imaging shows promise in providing sacroiliac joint visualization comparable to low-dose CT scans, thereby improving the detection of subtle erosion and sclerosis in these joints.

AIM:To discuss the diagnostic tests and management options of retroclival Ecchordosis physaliphora (EP). MATERIAL AND METHODS:Four patients with a retroclival EP were assessed. Computerized tomography (CT) and magnetic resonance imaging (MRI) findings were examined thoroughly. Diffusion MRI characteristics were also evaluated. Furthermore, our management protocol has been discussed. RESULTS:A total of 4 patients with a retroclival EP exhibited similar imaging findings. CT revealed bone changes and a stalk-like connection between the clivus and EP. MRI revealed a lesion that was hyperintense on T2-weighted images and hypointense on T1-weighted images. Neither of the lesions showed contrast enhancement. All lesions were surgically resected. Histopathological examination of the lesions confirmed the diagnosis of benign notochordal remnant. CONCLUSION:The approach and timing of surgery should be determined according to the lesion parameters in each patient. Large heterogenous lesions that have caused significant bone changes require timely surgery. Small homogenous lesions with a stalk-like connection to clivus should be closely monitored.

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, autosomal recessively inherited disorder characterized by a congenital absence of conjugated horizontal eye movements with progressive scoliosis developing in childhood and adolescence. HGPPS is caused by mutations of the ROBO3 gene that disrupts the midline crossing of the descending corticospinal and ascending lemniscal sensory tracts in the medulla. We present two siblings, 5-year-old and 2- year-old boys with HGPPS, from non-consanguineous parents. The older brother was brought for the evaluation of moderate psychomotor retardation. He had bilateral horizontal gaze palsy with preserved vertical gaze and convergence. Scoliosis was absent. Cranial MRI showed brainstem abnormalities, and diffusion tensor imaging showed absent decussation of corticospinal tracts in the medulla. Clinical diagnosis of HGPPS was confirmed by sequencing of ROBO3 gene, IVS4-1G> A ( c.767-1G > A) and c.328_329delinsCCC (p. Asp110Profs*57) compound heterozygous variations were found, and segregated in parents. The younger boy was first reported at 16 months of age and had the same clinical and neuroradiological findings, unlike mild psychomotor retardation. ROBO3 gene analysis showed the same variants in his brother. Our cases show the importance of evaluating eye movements in children with neurodevelopmental abnormalities and looking for brainstem abnormalities in children with bilateral horizontal gaze palsy.

BACKGROUND:Radiologically isolated syndrome (RIS) is a condition characterized by asymptomatic, incidentally detected demyelinating plaques in the CNS in a patient without typical clinical findings of multiple sclerosis (MS). This study aimed to compare the mental status and cognitive functions of child and adolescent RIS cases with healthy controls and to investigate the relationship between psychometric test results and the demyelinating lesion characteristics. METHODS:The mental status and cognitive functions of 12 RIS cases and 12 healthy controls were compared. Semi-structured interviews, behavioral evaluations, depression and anxiety scales, neuropsychological test battery, and an intelligence test were applied for the evaluation of mental state and cognitive functions. These results were compared with the number and localization of demyelinating lesions. RESULTS:Sustained attention, visual-motor coordination, short-term memory skills, and ability to use visual-spatial information were found worse in the RIS group. There was no correlation between mental state and cognitive functions, and the number and localization of demyelinating lesions. CONCLUSION:Our study showed that pediatric RIS cases may have worse cognitive performance than healthy controls, but no correlation was found between the number and location of demyelinating lesions and psychiatric findings. Although it is controversial whether psychiatric disorders and cognitive disabilities have predictive value in terms of MS conversion in pediatric RIS cases, these subjects were not included in the scope of this study.

Click to increase image sizeClick to decrease image size Additional informationFundingThe author(s) reported there is no funding associated with the work featured in this article.

Objective The aim of this study was to assess the effectiveness of zero echo time (ZTE) MRI in identifying structural lesions in patients with enthesitis-related arthritis (ERA), a subset of juvenile idiopathic arthritis (JIA) known for frequent sacroiliac (SI) joint involvement. Conventional MRI pulse sequences often struggle to adequately visualize osseous and calcified tissues. Methods All MRI examinations were conducted using a 1.5 T scanner. The MRI protocol included standard sequences such as fat-suppressed axial T2-weighted, axial T1-weighted, coronal short tau inversion recovery (STIR), and axial T2-weighted sequences. In addition to conventional MRI, a ZTE sequence was employed. Low-dose CT (ldCT) served as the reference standard and was performed using a 640-multislice CT device. Structural lesions, including erosions, sclerosis, and changes in joint space, were compared between imaging modalities. Results A total of 20 patients were included in the study (12 boys, 8 girls), with a median age at diagnosis of 14.1 years. ZTE-MRI demonstrated similar sensitivity to ldCT in detecting erosion (7 vs 8, p = 0.707). The interclass correlation coefficient (ICC) between ldCT and ZTE-MRI was 0.993 (p

Objectives:To evaluate the performances of machine learning using semantic and radiomic features from magnetic resonance imaging data to distinguish cystic pituitary adenomas (CPA) from Rathke's cleft cysts (RCCs).Materials and Methods:The study involved 65 patients diagnosed with either CPA or RCCs. Multiple observers independently assessed the semantic features of the tumors on the magnetic resonance images. Radiomics features were extracted from T2-weighted, T1-weighted, and T1-contrast-enhanced images. Machine learning models, including Support Vector Machines (SVM), Logistic Regression (LR), and Light Gradient Boosting (LGB), were then trained and validated using semantic features only and a combination of semantic and radiomic features. Statistical analyses were carried out to compare the performance of these various models.Results:Machine learning models that combined semantic and radiomic features achieved higher levels of accuracy than models with semantic features only. Models with combined semantic and T2-weighted radiomics features achieved the highest test accuracies (93.8%, 92.3%, and 90.8% for LR, SVM, and LGB, respectively). The SVM model combined semantic features with T2-weighted radiomics features had statistically significantly better performance than semantic features only (p = 0.019).Conclusion:Our study demonstrates the significant potential of machine learning for differentiating CPA from RCCs.

OBJECTIVE:Calcification in pituitary adenomas is a rare occurrence and its differential diagnosis typically includes other sellar masses. Common calcifications in pituitary adenomas are classified into 2 morphological forms: capsular (eggshell-like) and multiple small nodular calcifications located within the adenoma. Also, there is a pituitary stone term. This study aims to present the results of calcified pituitary adenoma case series who underwent endoscopic endonasal approach (EEA) and the clinical, histopathological characteristics and surgical outcomes of these cases. METHODS:This study conducted a retrospective cohort analysis of patients with calcified pituitary adenoma operated on by EEA between August 1997 and February 2024. The inclusion criteria were as follows: proven radiological calcification on preoperative neuroimaging, intraoperative findings of calcification, and definitive histopathological diagnosis of calcification. Among these patients, 11 cases were included. RESULTS:The mean follow-up duration was 51.45 ± 37.24 (6-118) months. Based on the preoperative paranasal sinus computed tomography scans of patients, 9 patients (81.8%) had intratumoral calcification, 1 (9.1%) had capsular (eggshell-like) calcification, and 1 (9.1%) had both intratumoral and capsular calcification. Moreover, stone-like calcifications were observed in 4 patients (36.4%), soft-type calcifications in 3 (27.3%), hard-type calcifications in 3 (27.3%), and soft-type and hard-type calcifications in 1 (9%). Gross total resection was achieved in 9 patients (81.8%). Pathologic subtypes included nonfunctioning (n = 4), prolactin secreting (n = 3), growth hormone-secreting adenoma (n = 2), and pituitary apoplexy (n = 2). Ten patients had psammomatous-type calcifications and 1 had extensive ossification and osteoid metaplasia. CONCLUSIONS:Preoperative radiological evaluation, intraoperative classification of calcification, and postoperative histopathological assessments are crucial in the treatment of calcified adenomas. Bases on these findings, the EEA, with its advantages, is an approach that can be effectively used in the management of these calcified adenomas.

Background The present study aims to evaluate possible cardiac involvement in juvenile dermatomyositis (JDM) patients by conventional methods and cardiac magnetic resonance imaging (MRI) along with a systematic review of the literature on cardiac features in JDM.Methods The study group consisted of JDM patients who underwent cardiac MRI. We conducted a systematic review of the published literature involving JDM patients with cardiac involvement.Results In the present study, although baseline cardiologic evaluations including electrocardiography and echocardiography were within normal limits, we showed late gadolinium enhancement on cardiac MRI in 3 of 11 JDM patients. In the literature review, we identified 25 articles related to cardiac involvement in JDM. However, none of them, except one case report, included cardiac MRI of JDM patients.Conclusion Cardiac abnormalities have been reported among the less frequent findings in patients with JDM. Cardiovascular complications during the long-term disease course are a leading cause of morbidity and mortality in these patients. Early detection of cardiac involvement by cardiac MRI in patients with JDM and aggressive treatment of them may improve the clinical course of these patients.Impact The myocardium in patients with JDM may be involved by inflammation. Myocardial involvement may be evaluated by using contrast-enhanced cardiac MRI. This is the first study evaluating cardiac involvement by cardiac MRI in JDM patients. MRI may show early cardiac involvement in patients whose baseline cardiologic evaluations are within normal limits. Early detection of cardiac involvement by cardiac MRI may improve the long-term prognosis of patients with JDM.

Autoimmune encephalopathy (AE) is a group of diseases with subacute onset, that represents a wide clinical spectrum, manifested by complex neuropsychiatric symptoms and signs. In this study, the data of 27 patients diagnosed and followed up in our clinic with the diagnosis of AE between 2011 and 2021 were evaluated retrospectively. Out of 27 patients, 6 were definite seropositive AE, 2 of them met the diagnostic criteria for limbic encephalitis, and the remaining 19 were probable AE. Nowadays, we see AEs with increasing frequency. While there is a generally established approach in the diagnosis and treatment of seropositive patients, there are still hesitations and diagnostic difficulties in seronegative AEs. In this study, clinical, radiological, and prognostic features of definite and probable AE patients diagnosed in a tertiary pediatric neurology clinic were documented. It is thought that pediatric neurologists have an important responsibility to increase awareness about AE in pediatricians. In the future, it is predicted that AE will be diagnosed more frequently with new antibodies and one has to differentiate it from viral encephalitis and neuropsychiatric syndromes and diseases.

Background and purpose Cystic pituitary adenomas and cystic craniopharyngiomas may mimic Rathke cleft cysts when there is no solid enhancing component on magnetic resonance imaging (MRI). This study aims to investigate the efficiency of MRI findings in differentiating Rathke cleft cysts from pure cystic pituitary adenoma and pure cystic craniopharyngioma. Materials and methods 109 patients were included in this study (56 Rathke cleft cysts, 38 pituitary adenomas, and 15 craniopharyngiomas). Preoperative magnetic resonance images were evaluated using 9 imaging findings. These findings include intralesional fluid-fluid level, intralesional septations, midline /off-midline location, suprasellar extension, an intracystic nodule, a hypointense rim on T2-weighted images, ≥ 2 mm thickness of contrast-enhancing wall, T1 hyperintensity and T2 hypointensity. p < 0.01 was considered statistically significant. Results There was a statistically significant difference among groups for these 9 findings. Intracystic nodule and T2 hypointensity were the most specific MRI findings in differentiating Rathke cleft cyst from the others (98.1% and 100%, respectively). Intralesional septation and thick contrast-enhancing wall were the most sensitive MRI findings ruling out Rathke cleft cysts with 100% sensitivity. Conclusion Rathke cleft cysts can be distinguished from pure cystic adenoma and craniopharyngioma with the presence of an intracystic nodule, T2 hypointensity, the absence of the thick contrast-enhancing wall, and absence of intralesional septations.

BACKGROUND:Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by early-onset macrocephaly and progressive white matter vacuolation. The MLC1 protein plays a role in astrocyte activation during neuroinflammation and regulates volume decrease following astrocyte osmotic swelling. Loss of MLC1 function activates interleukin (IL)-1β-induced inflammatory signals. Theoretically, IL-1 antagonists (such as anakinra and canakinumab) can slow the progression of MLC. Herein, we present two boys from different families who had MLC due to biallelic MLC1 gene mutations and were treated with the anti-IL-1 drug anakinra.METHODS:Two boys from different families presented with megalencephaly and psychomotor retardation. Brain magnetic resonance imaging findings in both patients were compatible with the diagnosis of MLC. The diagnosis of MLC was confirmed via Sanger analysis of the MLC1 gene. Anakinra was administered to both patients. Volumetric brain studies and psychometric evaluations were performed before and after anakinra treatment.RESULTS:After anakinra therapy, brain volume in both patients decreased significantly and cognitive functions and social interactions improved. No adverse effects were observed during anakinra therapy.CONCLUSIONS:Anakinra or other IL-1 antagonists can be used to suppress disease activity in patients with MLC; however, the present findings need to be confirmed via additional research.