This article presents a case characterized by recurrent pulmonary infections and a poor therapeutic response. Initially, cystic fibrosis (CF) or Primary ciliary dyskinesia was suspected; however, the patient subsequently sought medical attention for a neck mass. The mass was initially misdiagnosed as lymphoma, but a comprehensive examination and assessment ultimately confirmed the diagnosis of activated phosphoinositide 3-kinase delta syndrome type I(APDS1). Through the patient’s tortuous diagnostic journey, this report aims to enhance clinicians’ understanding of this rare primary immunodeficiency disorder. Clinical picture: The patient is a female adopted child who has experienced recurrent lung infections since the age of 6 months. On average, she has required hospitalization 2–3 times annually, with conventional anti-infection treatments proving less effective. Throughout her illness, she was admitted to another hospital for sinusitis and breast cysts, although the specifics of her treatment remain unclear. Subsequently, she presented to our hospital with symptoms of coughing, yellow sputum, and hemoptysis. During her hospitalization, a new neck mass was identified. Key inspection: Imaging assessment revealed a chest CT indicating pulmonary infection and bronchiectasis with mucus plug formation. Neck CT and MRI suggested a potential diagnosis of lymphoma. Pathogen testing through nucleic acid analysis for respiratory pathogens yielded positive results for mycoplasma and adenovirus influenzae. Laboratory and abdominal ultrasound did not identify any abnormalities in the pancreas. A peripheral blood immunological assessment demonstrated significantly diminished cellular and humoral immune functions. Following the resection of the cervical mass, the initial pathological diagnosis was lymphoma; however, tests for T-cell receptor (TCR) and immunoglobulin (IG) gene rearrangements returned negative results. After a multidisciplinary consultation and subsequent pathological re-examination, the diagnosis was revised to infectious mononucleosis. Genetic testing revealed a heterozygous mutation in the PIK3CD gene. Final diagnosis: Activated phosphatidylinositol 3-kinase δ syndrome type I (APDS1). Treatment and prognosis: Following diagnosis, the child was administered rapamycin-targeted therapy in conjunction with compound sulfamethoxazole to prevent infections, with regular monitoring of rapamycin blood concentrations. Subsequent follow-up indicated a significant reduction in the frequency of pulmonary infection episodes, a decrease in the size of the enlarged lymph nodes in the neck, and effective control of the condition.

To evaluate the diagnostic value of enhanced computed tomography (CT) radiomics and deep learning in differentiating pediatric peripheral neuroblastoma (NB) from ganglioneuroblastoma (GNB). Retrospectively enrolled children with pathologically confirmed NB and GNB between February 2014 and December 2024 were randomly sampled and divided into a training set and a validation set. Radiomic features were extracted and selected from arterial-phase and venous-phase CT images. A 3D-UNet model was constructed to train a lesion segmentation model. Radiomic features were automatically extracted and selected from CT images using the 3D-UNet model. Radiomics models and combined models (incorporating clinical indicators) were established on the basis of the optimal feature subsets for the arterial phase, venous phase, arteriovenous phase, and combined clinical data. Receiver operating characteristic (ROC) curves were plotted, and the area under the curve (AUC) was calculated and compared across phases and models. A total of 225 pediatric patients (161 NB cases and 64 GNB cases) were enrolled. Compared with the radiomic-only models (LDA and LR), the combined models (LDA and LR) incorporating radiomic and clinical features (age and NSE) demonstrated greater diagnostic performance in differentiating NB and GNB. The 3D-UNet-based deep learning model achieved optimal performance after 20 training iterations, with a best Dice coefficient of 0.818 for mixed tumor types in the validation set.The optimal diagnostic performance was achieved by the LR combined model based on venous-phase CT images’ omics features and clinical data (CE2 + C), with an AUC of 0.922 in the training set and 0.913 in the validation set. Both the LDA and LR models exhibited high diagnostic efficacy, with no statistically significant difference (P > 0.05) between the models. There was also no significant difference (P > 0.05) in the diagnostic performance of the combined models across phases when incorporating clinical information. Enhanced CT radiomics and deep learning models have significant diagnostic value in differentiating pediatric peripheral NB from GNB.

BackgroundDiffuse abdominal infantile hemangioma (DAIH) is an exceptionally rare and life-threatening vascular anomaly, characterized by extensive infiltrative growth. It poses significant diagnostic challenges by mimicking malignancy and therapeutic difficulties due to involvement of critical structures. This case highlights the pivotal role of multimodality imaging and a multidisciplinary approach in its management.Case descriptionAn 8-month-old female infant presented with abdominal distension and a history of hematochezia. Multimodality imaging (ultrasound, CT, and MRI) revealed an extensive, infiltrative vascular mass involving the mesentery and small bowel wall. Key findings included marked arterial enhancement, persistent venous pooling, flow voids, and secondary hemodynamic changes (portal/hepatic vein dilatation, aortic narrowing, and pulmonary hypertension). Given the lesion's unresectability and high embolization risk, ultrasound-guided biopsy was performed, confirming GLUT-1 positive infantile hemangioma. Oral propranolol therapy was initiated, leading to a dramatic reduction in lesion size and vascularity on follow-up imaging, along with resolution of pulmonary hypertension.ConclusionsThis case underscores the characteristic imaging spectrum of DAIH, which radiologists must recognize to avoid misdiagnosis as malignancy. It reaffirms that a multidisciplinary strategy—centered on imaging-guided biopsy and propranolol as first-line therapy—can optimize outcomes even in severe cases, establishing a modern standard of care for such complex vascular anomalies.

This case report aims to describe an unusual presentation of multinodular and vacuolating neuronal tumor (MVNT) in a pediatric patient, highlighting its atypical radiological and clinical features. We present the case of an 8-year-old boy with a 7-month history of seizures that progressed to daily episodes. Diagnostic workup included electroencephalography (EEG) and magnetic resonance imaging (MRI) with contrast. The lesion was resected surgically, and the diagnosis was confirmed histopathologically and immunohistochemically. EEG revealed ictal discharges in the left central, parietal, and mid-posterior temporal regions. MRI showed a left frontal cortical lesion with T1 hypointensity, T2/FLAIR hyperintensity, and unusual marked contrast enhancement, mimicking ganglioglioma. Histopathological examination confirmed MVNT. Postoperatively, the patient experienced mild left limb weakness but remained seizure-free at one-month follow-up. This case illustrates that MVNT can rarely occur in children and may exhibit prominent contrast enhancement and a ganglioglioma-like imaging appearance, posing a diagnostic challenge. Neurosurgeons and neuroradiologists should consider MVNT in the differential diagnosis of enhancing cortical lesions in pediatric epilepsy patients. Histopathological verification remains essential for definitive diagnosis.

Background: Retinoblastoma (RB) is the most common malignant tumor in children under the age of 3 years and is associated with a high disability and mortality rate. The aim of this study was, first, to evaluate the clinical efficacy of multimodal imaging in differentially diagnosing RB in children and in predicting the efficacy of selective ophthalmic artery infusion (SOAI) and, second, to identify the factors associated with this efficacy. Methods: This study retrospectively collected the data from 256 children with unilateral RB and intraocular involvement, including multimodal imaging magnetic resonance imaging (MRI), computed tomography (CT), and clinical characteristics. Among the cases, 33 with both CT and MRI data available were used to evaluate the diagnostic accuracy in distinguishing RB, with histopathological results serving as the gold standard. Additionally, a retrospective analysis was conducted on the MRI and clinical characteristics of 256 cases of unilateral RB with intraocular involvement before SOAI treatment. The predictive ability of imaging features and clinical characteristics for the treatment efficacy of children was analyzed, and the differences in globe salvage rates and visual preservation based on different tumor stages were evaluated. Results: The diagnostic accuracy of CT imaging for RB was 96.96% while that of MRI was 84.84%, with both showing high consistency with the histopathological results. CT images demonstrated a posterior intraocular mass with a high-density appearance, with spots, patches, or clustered calcifications visible within the tumor. The CT values were mostly above 100 Hounsfield units (HU), and enhanced scanning showed varying degrees of enhancement in noncalcified masses. MRI showed low or moderate signal intensity on T1-weighted images and moderate-to-high signal intensity on T2-weighted images, with significant enhancement after contrast administration. Tumors with more calcifications showed long T1 and short T2 signals. Patients with better prognosis had a higher delta signal increase (Delta SI), a greater distance from the optic disc, smaller tumor diameter, absence of implantation nodules or smaller implantation range, endogenous growth pattern, smaller extent of retinal detachment, absence of clinical high-risk factors, no vitreous hemorrhage, no globe shrinkage, and smaller calcification volume. The distance between the tumor and optic disc, clinical high-risk factors, and tumor growth pattern were found to be independent factors associated with prognosis. The rate of successful globe salvage and visual acuity decreased with increasing Conclusions: CT and MRI are highly valuable for the comprehensive assessment of tumors in pediatric RB. MRI alone can complete a comprehensive assessment of patients with RB and thus allow for the reduction radiation dose in children. Calcification of the tumor is crucial for diagnosis, and imaging findings can serve to inform patient prognosis and treatment planning. The distance between the tumor and optic disc, clinical high-risk factors, and tumor growth pattern are closely related to the prognosis of children.

BackgroundAnomalous pulmonary venous connection with malposition of septum primum (MSP) is a rare pediatric cardiovascular malformation. Although reports in the literature are scarce, accurate pre-operative imaging diagnosis is crucial for selecting the appropriate clinical intervention and determining the prognosis for affected children.Case descriptionIn both case reports, the cardiovascular malformations were incidental findings. In the second case, an enlarged cardiac silhouette was observed on chest x-ray due to pneumonia, which was subsequently confirmed by ultrasound. Combined with computed tomography angiography examination, the diagnosis of MSP-type anomalous pulmonary venous connection was established.ConclusionsComprehensive imaging examinations are essential in reducing misdiagnosis and achieving an accurate diagnosis of MSP-type anomalous pulmonary venous connection. The typical imaging findings for MSP-type anomalous pulmonary venous connection include absence or hypoplasia of the superior limbic band of the septum secundum, leftward displacement of the septum primum, and partial or total pulmonary vein drainage into the anatomical right atrium.

Introduction: Subcortical band heterotopia (SBH) is a rare brain developmental malformation caused by deficient neuronal migration during embryogenesis. Published literature on pediatric SBH cases caused by DCX mutations is limited. Methods: The detailed clinical and genetic features of two pediatric SBH with DCX mutations were analyzed. The available literature on DCX mutations was reviewed. Results: Both patients were girls with varying degrees of developmental delay. Patient 1 was short in stature with peculiar facial features. Patient 2 had an early seizure onset and developed drug-resistant epilepsy. Whole-exome sequencing (WES) revealed two de novo heterozygous variants of DCX (NM_178153.3), including a novel missense variant of c.568A > G (p.K190E) in P1 and a reported nonsense variant of c.814C > T (p.R272*) in P2. We reviewed all the available literature regarding DCX mutations. A total of 153 different mutations have been reported, with the majority of 99 (64.7 %) being missense mutations. Conclusion: Our study expanded the mutational spectrum of DCX, which has important implications for the study of genotype-phenotype correlations. Furthermore, it provided insights to better understand SBH and genetic counseling.

Purpose:This study sought to investigate the relationship between the globus pallidus/putamen T1 weighted image (T1WI) signal intensity ratio (G/P ratio) and the acute bilirubin encephalopathy (ABE) in neonates, and to develop a new strategy for the grading and prognosis of ABE based on the G/P ratio.Methods:A total of 77 full-term neonates with ABE were scored according to bilirubin-induced neurological dysfunction and divided into mild, moderate, and severe groups. Cranial magnetic resonance imaging examinations were performed and the G/P ratio was recorded. The follow-up reexaminations were carried out at 6 months, 1 year, and 2 years after the initial examination. The neonates were then divided into two groups, the good prognosis group and the kernicterus spectrum disorder (KSD) group, according to the evaluation of Gesell Developmental Schedules and Brainstem Audio Electric Potential at 6 months.Main findings:The differences of G/P ratios were statistically significant, not only among the mild, moderate, and severe ABE groups for the initial examinations but also between the KSD and the good prognosis groups for the follow-up reexaminations. Therefore, the ABE grading model and prognosis predicting model could be established based on the G/P ratio. In the KSD group, the area under the receiver operating characteristic curve of the G/P ratio-based predicting model was 93.5%, the optimal critical point was 1.29, the sensitivity was 88.2%, and the specificity was 93.3%.Conclusions:The G/P ratio can be used as an indicating parameter for both the clinical grading of neonatal ABE and the assessment of neonatal ABE prognosis. Specifically, the G/P ratio greater than 1.29 indicates a KSD of neonatal ABE.

Objective: This study aimed to explore diagnostic performance of 3D-NERVE as an adjunct to electromyography for the assessment of brachial plexus injury in infants. Methods: Imaging of infants with brachial plexus injury using 3D-NERVE and/or 3D-STIR from 2019 to 2022 were reviewed. Images were evaluated between the 2 sequences for nerve-to-fat ratio, nerve-to-muscle ratio, muscle-to-fat ratio, fat suppression homogeneity, and display rate of brachial plexus branches. Results: This study included 37 infants who were referred for a clinical diagnosis of brachial plexus injury. A total of 21 infants accepted 3D-NERVE sequence scanning, and 16 infants accepted 3D-NERVE and 3D-STIR sequences scanning. The results of examination were generally consistent with electromyography. The 2 sequences were compared, yielding the following results. There were no pulsation artifacts (0/16), and 1 case with heterogeneous fat saturation (1/16) was seen on 3D-NERVE. There were no pulsation artifacts (0/16), and 5 cases with heterogeneous fat saturation (5/16) were seen on 3D-STIR. 3D-NERVE performed better (P < .05) for nerve-to-fat and nerve-to-muscle ratios compared with 3D-STIR, and no significant difference in the muscle-to-fat ratio (P > .05). The 3D-NERVE and STIR helped depict 100% (16/16) of the brachial roots and brachial plexus trunk. Brachial plexus bundles and brachial plexus branches were observed in 93.75% (15/16) and 68.75% (11/16) of the 3D-NERVE and 93.75% (15/16) and 62.5% (10/16) of the 3D-STIR, respectively. The differences were not statistically significant (P > .05). Conclusion: Nerve trauma was better visualized with the 3D-NERVE, which is an effective adjunct to electromyography for doctors to assess brachial plexus injury and consequently helps in better treatment planning.

OBJECTIVE:To explore the genetic etiology of a small-for-date infant with gastrointestinal bleeding, developmental delay and thrombocytopenia (Zhu-Tokita-Takenouchi-Kim syndrome).METHODS:Clinical and laboratory examinations were carried out for the patient. Next-generation sequencing (NGS) was used to detect potential variant associated with the disease. Candidate variant was verified by Sanger sequencing of the child and her parents.RESULTS:NGS revealed that the child has carried a heterozygous c.5751_5754del variant of the SON gene, which resulted in a frameshift p.V1918Efs*87. The same variant was detected in neither parent.CONCLUSION:The heterozygous variant of SON gene probably underlay the ZTTK syndrome in this child. Above finding has enriched the mutational spectrum of the SON gene and provides a basis for genetic counseling and clinical decision-making.

目的 探讨Ⅰ、Ⅱ型局灶性皮质发育不良(FCD)患儿高分辨MRI征象及预后.方法 回顾性分析经病理证实47例FCD患儿MRI及临床资料.比较高分辨MRI与常规序列对各种征象检出率差异,对照病灶MRI区域与致痫范围关系,分析诸因素(手术方式、FCD类型、致痫部位)对手术预后的影响.结果 高分辨MRI对灰白质分界模糊、皮质结构异常及灰白质内异常信号检出率高于常规序列(P<0.05).41例(87.2％)致痫范围大于病灶MRI区域.致痫灶全部切除患儿预后好于局部切除者、Ⅰ型好于Ⅱ型、低年龄组好于高年龄组、颞叶癫痫好于其他部位(P<0.05).致痫灶切除方式是影响患儿手术预后的独立因子.结论 儿童FCD具有灰白质分界模糊伴其内异常信号、皮质结构异常及transmantle征等特异征象,高分辨MRI能够提高上述征象检出率,为首选序列.致痫灶完全切除是手术成功关键.

本研究目的 是探讨多层螺旋CT(MSCT)在诊断食管闭锁和食管气管瘘的价值.选取食管闭锁和食管气管瘘患儿44例,比较分析MSCT与手术结果差异.结果 显示,44例患儿中,工型3例,Ⅱ型O例,Ⅲa型8例,Ⅲb型32例,Ⅳ型O例,V型1例;MSCT判断Gross分型与手术结果Kappa值为0.901 (P＜0.05),一致性好,MSCT判断Gross分型准确率为95.45％;MSCT判断Ⅱ～Ⅳ型闭锁食管盲端间距离与手术测量比较差异无统计学意义(P＞0.05);MinIP的多平面体积重组(MPVR)和胸部透明肺的容积再现(TL-VR)模式下测量闭锁食管盲端间距离比较差异无统计学意义(P＞0.05);MSCT判断瘘口位置与手术结果Kappa值为0.873(P＜0.05),一致性好,MSCT判断瘘口位置准确率为93.18％.MSCT诊断食管闭锁和食管气管瘘有较好的价值,值得临床使用.

目的 研究儿童视网膜母细胞瘤CT、MRI影像特征及临床应用价值.方法 回顾性分析,本院2017年1月至2019年3月在本院收治的33例视网膜母细胞瘤患者,所有患者都进行CT及MRI检查.对患者所得图像进行分析,以病理或手术结果基准,对CT、MRI检查对视网膜母细胞瘤诊断符合率进行比较.结果 以病理学检查为基准,CT检查对视网膜母细胞瘤诊断符合率为96.96％,MRI为84.84％,与病理学结果一致性较高(P>0.05).MSCT图像表现:可见眼球玻璃体内后部肿块样高密度影,肿瘤内可见斑点、斑片或者团块状钙化.CT值大多在100HU以上;增强扫描后可见未钙化瘤体有不同程度强化.MRI图像表现:T1WI呈低或中等信号,T2WI为中等或高信号,增强后显著强化;在钙化较多肿瘤内,可见T1长、T2短信号.结论 CT、MRI影像检查对儿童视网膜母细胞瘤有较高的诊断价值,肿瘤钙化是此病诊断要点,通过影像学表现可对患者预后及治疗计划提供参考依据.

Objective To investigate the value of CT radiomics in the differentiation of mycoplasma pneumoniae pneumonia (MPP) from streptococcus pneumoniae pneumonia (SPP) with similar CT manifestations in children under 5 years. Methods A total of 102 children with MPP (n = 52) or SPP (n = 50) with similar consolidation and surrounding halo on CT images in Qilu Hospital and Qilu Children’s Hospital between January 2017 and March 2022 were enrolled in the retrospective study. Radiomic features of the both lesions on plain CT images were extracted including the consolidation part of the pneumonia or both consolidation and surrounding halo area which were respectively delineated at region of interest (ROI) areas on the maximum axial image. The training cohort (n = 71) and the validation cohort (n = 31) were established by stratified random sampling at a ratio of 7:3. By means of variance threshold, the effective radiomics features, SelectKBest and least absolute shrinkage and selection operator (LASSO) regression method were employed for feature selection and combined to calculate the radiomics score (Rad-score). Six classifiers, including k-nearest neighbor (KNN), support vector machine (SVM), extreme gradient boosting (XGBoost), random forest (RF), logistic regression (LR), and decision tree (DT) were used to construct the models based on radiomic features. The diagnostic performance of these models and the radiomic nomogram was estimated and compared using the area under the receiver operating characteristic (ROC) curve (AUC), and the decision curve analysis (DCA) was used to evaluate which model achieved the most net benefit. Results RF outperformed other classifiers and was selected as the backbone in the classifier with the consolidation + the surrounding halo was taken as ROI to differentiate MPP from SPP in validation cohort. The AUC value of MPP in validation cohort was 0.822, the sensitivity and specificity were 0.81 and 0.81, respectively. Conclusion The RF model has the best classification efficiency in the identification of MPP from SPP in children, and the ROI with both consolidation and surrounding halo is most suitable for the delineation.

目的 探讨小儿额部蛛网膜下腔宽度值在不同CT层面是否存在差异,分析宽度值与月龄的相互关系,并确定蛛网膜下腔宽度的上限值.方法 在半卵圆中心、松果体及乳头体层面测量1～12月小儿额部蛛网膜下腔宽度值,并进行统计学分析.结果 小儿额部蛛网膜下腔宽度先增宽后变窄,在4～6月达最大值;不同层面宽度值之间差异有统计学意义(P＜0.05).结论 小儿额部蛛网膜下腔宽度随月龄先增宽后变窄,在4～6月宽度达最大值.建议在固定层面及位置对额部蛛网膜下腔宽度进行测量,以对应月龄95百分位数作为上限值.

目的 探讨高分辨MRI成像在儿童Ⅰ型局灶性皮质发育不良(FCD)术前评估中的价值.方法 回顾性分析52例经病理学证实的FCD Ⅰ型患儿的MRI及相关临床资料,比较高分辨成像与MRI常规序列对Ⅰ型FCD各主要MRI征象(局灶性灰白质分界模糊、局灶性皮质结构异常、白质异常信号灶及局限性脑叶萎缩/发育不全)的检出率,以及对病灶范围、边界及完整性评估中的对比.结果 高分辨成像对局灶性灰白质分界模糊、局灶性皮质结构异常及白质异常信号灶的检出率高于常规序列(P＜0.05),对局限性脑叶萎缩/发育不全检出率差异无统计学意义(P＞0.05).3D-T1WI对病灶范围及边界的显示要优于常规T1WI序列,3D-T2FLAIR较常规T2 FLAIR序列更能够较完整显示病灶.结论 MRI高分辨成像可提高Ⅰ型FCD各种主要征象的检出率,能够更完整显示病灶及准确评估病灶范围、边界,为术前首选MRI成像序列.