Association of Glymphatic and White Matter Impairment With the Postoperative Outcome of Pediatric Hydrocephalus.

BACKGROUND AND OBJECTIVES: Assessment of postoperative outcomes on pediatric hydrocephalus is critical for adjusting treatment strategies. The aim of this work was to investigate the ability of MRI metrics to predict postoperative outcomes. METHODS: A total of 55 children with hydrocephalus who underwent MRI and ventriculoperitoneal shunt surgery were prospectively enrolled. MRI was also performed at 6 months postoperatively in 33 of the 55 children. A total of 92 controls matched for age and sex were enrolled and divided into preoperative and postoperative control groups. We calculated the diffusion tensor imaging along the perivascular space (DTI-ALPS) index, Evans index, and diffusion tensor imaging metrics. The ability of various metrics to predict postoperative outcomes was assessed using receiver operating characteristic curve analysis. RESULTS: The DTI-ALPS index was significantly lower in patients with hydrocephalus than in controls. The abnormal DTI-ALPS index trended toward the normal range after surgery. Patients with lower preoperative DTI-ALPS index, lower fractional anisotropy (FA), and higher radial diffusivity in association fibers had less favorable short-term outcomes. Patients with worse long-term outcomes had lower postoperative DTI-ALPS index, higher postoperative Evans index, and lower FA and higher radial diffusivity in association fibers. Predictive performance was better when the DTI-ALPS index and FA in association fibers were used in combination than when either of these metrics was used alone. CONCLUSION: The DTI-ALPS index and FA in association fibers provided complementary information for prognostic assessment after the ventriculoperitoneal shunt surgery on pediatric hydrocephalus. A combination of DTI-ALPS index and FA would improve our ability to predict postoperative outcomes in these patients.

Muscle texture features on preoperative MRI for diagnosis and assessment of severity of congenital muscular torticollis.

OBJECTIVES: To develop an objective method based on texture analysis on MRI for diagnosis of congenital muscular torticollis (CMT). MATERIAL AND METHODS: The T1- and T2-weighted imaging, Q-dixon, and T1-mapping MRI data of 38 children with CMT were retrospectively analyzed. The region of interest (ROI) was manually drawn at the level of the largest cross-sectional area of the SCM on the affected side. MaZda software was used to obtain the texture features of the T2WI sequences of the ROI in healthy and affected SCM. A radiomics diagnostic model based on muscle texture features was constructed using logistic regression analysis. Fatty infiltration grade was calculated by hematoxylin and eosin staining, and fibrosis ratio by Masson staining. Correlation between the MRI parameters and pathological indicators was analyzed. RESULTS: There was positive correlation between fatty infiltration grade and mean value, standard deviation, and maximum value of the Q-dixon sequence of the affected SCM (correlation coefficients, 0.65, 0.59, and 0.58, respectively, P < 0.05).Three muscle texture features-S(2,2)SumAverg, S(3,3)SumVarnc, and T2WI extreme difference-were selected to construct the diagnostic model. The model showed significant diagnostic value for CMT (P < 0.05). The area under the curve of the multivariate conditional logistic regression model was 0.828 (95% confidence interval 0.735-0.922); the sensitivity was 0.684 and the specificity 0.868. CONCLUSION: The radiomics diagnostic model constructed using T2WI muscle texture features and MRI signal values appears to have good diagnostic efficiency. Q-dixon sequence can reflect the fatty infiltration grade of CMT.

Ultrasonography in Children With Congenital Pyriform Sinus Fistula: Analysis of 31 Cases.

OBJECTIVES: Congenital pyriform sinus fistula (CPSF) is a rare disease that can be easily misdiagnosed. This study investigates the value of ultrasonography in the early diagnosis and treatment of CPSF in children. METHODS: Clinical features and ultrasonography images of 31 CPSF pediatric patients confirmed by operation were retrospectively analyzed, different sonographic features during the infection period and the quiescence period were summarized and the consistency test of ultrasonic recognition and diagnosis between observers was conducted. RESULTS: In this study, 25 CPSF children had thick-walled cystic masses during the infection period, and cystic masses of 8 cases showed gas echo inside; after the modified valsalva maneuver, gas echo was found in another 5 cases. The detection rate of gas can be enhanced through the modified valsalva maneuver and infants' cry so as to provide an important basis for the diagnosis of pyriform sinus fistula. During the quiescent period of inflammation of 6 cases, fistula can be completely shown, and the wall structure has not been completely destroyed, so that the running position of fistula can be clearly seen. Ultrasonography boasted a good inter-observer consistency in identification and determination (Kappa:0.799-0.857; P<0.001). CONCLUSION: Ultrasonography could clearly reveal the position and direction of CPSF fistula. Different ultrasonic characteristics in different periods could provide relevant information for the selection of clinical operation timing and evaluate the post-operative effects.

Predicting Antiseizure Medication Treatment in Children with Rare Tuberous Sclerosis Complex-Related Epilepsy Using Deep Learning.

BACKGROUND AND PURPOSE: Tuberous sclerosis complex disease is a rare, multisystem genetic disease, but appropriate drug treatment allows many pediatric patients to have positive outcomes. The purpose of this study was to predict the effectiveness of antiseizure medication treatment in children with tuberous sclerosis complex-related epilepsy. MATERIALS AND METHODS: We conducted a retrospective study involving 300 children with tuberous sclerosis complex-related epilepsy. The study included the analysis of clinical data and T2WI and FLAIR images. The clinical data consisted of sex, age of onset, age at imaging, infantile spasms, and antiseizure medication numbers. To forecast antiseizure medication treatment, we developed a multitechnique deep learning method called WAE-Net. This method used multicontrast MR imaging and clinical data. The T2WI and FLAIR images were combined as FLAIR3 to enhance the contrast between tuberous sclerosis complex lesions and normal brain tissues. We trained a clinical data-based model using a fully connected network with the above-mentioned variables. After that, a weighted-average ensemble network built from the ResNet3D architecture was created as the final model. RESULTS: The experiments had shown that age of onset, age at imaging, infantile spasms, and antiseizure medication numbers were significantly different between the 2 drug-treatment outcomes (P < .05). The hybrid technique of FLAIR3 could accurately localize tuberous sclerosis complex lesions, and the proposed method achieved the best performance (area under the curve = 0.908 and accuracy of 0.847) in the testing cohort among the compared methods. CONCLUSIONS: The proposed method could predict antiseizure medication treatment of children with rare tuberous sclerosis complex-related epilepsy and could be a strong baseline for future studies.

Neurogenic Monodermal Teratoma in the Scapula of a Child: A Case Report.

Background: Neurogenic monodermal teratomas (NMTs) have been reported in the ovaries but not from bone. Case Report: A 6-year-old girl had an incidentally discovered lesion in the right scapula. Upon removal, it was an NMT with predominant choroid plexus. The disease had not progressed for 31 months. Conclusion: Neurogenic monodermal teratomas can also occur in bone.

Recognizing Pediatric Tuberous Sclerosis Complex Based on Multi-Contrast MRI and Deep Weighted Fusion Network.

Multi-contrast magnetic resonance imaging (MRI) is wildly applied to identify tuberous sclerosis complex (TSC) children in a clinic. In this work, a deep convolutional neural network with multi-contrast MRI is proposed to diagnose pediatric TSC. Firstly, by combining T2W and FLAIR images, a new synthesis modality named FLAIR3 was created to enhance the contrast between TSC lesions and normal brain tissues. After that, a deep weighted fusion network (DWF-net) using a late fusion strategy is proposed to diagnose TSC children. In experiments, a total of 680 children were enrolled, including 331 healthy children and 349 TSC children. The experimental results indicate that FLAIR3 successfully enhances the visibility of TSC lesions and improves the classification performance. Additionally, the proposed DWF-net delivers a superior classification performance compared to previous methods, achieving an AUC of 0.998 and an accuracy of 0.985. The proposed method has the potential to be a reliable computer-aided diagnostic tool for assisting radiologists in diagnosing TSC children.

Machine learning and statistic analysis to predict drug treatment outcome in pediatric epilepsy patients with tuberous sclerosis complex.

OBJECTIVES: We aimed to investigate the association between multi-modality features and epilepsy drug treatment outcomes and propose a machine learning model to predict epilepsy drug treatment outcomes with multi-modality features. METHODS: This retrospective study consecutively enrolled 103 epilepsy children with rare TSC. Multi-modality data were used to characterize risk factors for epilepsy drug treatment outcome of TSC, including clinical data, TSC1, and TSC2 genes test results, magnetic resonance imaging (MRI), computerized tomography (CT), and electroencephalogram (EEG). Three common feature selection methods and six common machine learning models were used to find the best combination of feature selection and machine learning model for epilepsy drug treatment outcomes prediction with multi-modality features for TSC clinical application. RESULTS: The analysis of variance based on selected 35 features combined with multilayer perceptron (MLP) model achieved the best area-under-curve score (AUC) of 0.812 (±0.005). Infantile spasms, EEG discharge type, epileptiform discharge in the right frontal area of EEG, drug-resistant epilepsy, gene mutation type, and type II lesions were positively correlated with drug treatment outcome. Age of onset and age of visiting doctors were negatively correlated with drug treatment outcome (p < 0.05). Our machine learning results found that among MRI features, lesion type is the most important in the outcome prediction, followed by location and quantity. CONCLUSION: We developed and validated an effective prediction model for epilepsy drug treatment outcomes of TSC. Our results suggested that multi-modality features analysis and MLP-based machine learning can predict epilepsy drug treatment outcomes of TSC.

Identification of Children's Tuberous Sclerosis Complex with Multiple-contrast MRI and 3D Convolutional Network.

Identifying rare tuberous sclerosis complex (TSC) children is valuable and crucial. Magnetic resonance imaging (MRI) is used for rare TSC diagnoses. In this work, T2w and FLAIR were combined as a new modality named FLAIR3 to maximize the contrast between TSC lesions and normal-appearing brain tissues. After that, for the first time, we propose to use two different 3D CNN combined with late fusion strategies to diagnose TSC. A total of 520 children were enrolled in the study, including 260 health and 260 TSC children. The experiments had shown that the FLAIR3 could effectively improve the conspicuity of TSC lesions and classification performance. And the results showed the proposed late fusion method can improve the classification performance and achieve the state-of-the-art performance of the AUC of 0.994 and the accuracy of 0.971, which could be treated as an effective computer-aided diagnostic tool to help clinical radiologists diagnose TSC children. Clinical Relevance- Our deep learning method can be a non-invasive, efficient, and reliable way to help clinical radiologists to identify TSC patients. FLAIR3 can provide clinicians with a new modality to accurately localize TSC lesions in TSC patients.

Ultrasonographic analysis of Langerhans cell histiocytosis in children: a report of 55 cases.

OBJECTIVE: To explore the value of ultrasonography in the diagnosis and treatment of Langerhans cell histiocytosis (LCH) in children. METHOD: The clinical and imaging features of 55 children with pathologically confirmed LCH were retrospectively analyzed. RESULTS: Thirteen patients had bone LCH and 42 had multisystem LCH. Among the 13 cases of bone LCH, 8 cases involving the skull and 2 involving the scapula were characterized by osteolytic bone destruction, 1 case involving the clavicle and 1 involving the iliac bone showed multiple irregular bone destruction, and 1 case involving the tibia showed local hypoechoic cortical bone. Soft tissue echo filling was present in the local areas of bone destruction. Among the 42 cases of multisystem LCH, 33 involved the bone, 35 showed an enlarged liver, 15 involved the spleen, 2 involved the pancreas, 3 involved the lung, 3 involved the thymus, and 21 affected the lymph nodes in different regions. CONCLUSIONS: Ultrasonography of the flat bones in children with LCH mainly showed punched-out osteolytic bone destruction. Long bone lesions were characterized by fan shell changes in the endosteum of long bones, and some also showed bone destruction. Multisystem LCH can affect almost any organ. Ultrasonography is important for early diagnosis.

Joint reconstruction framework of compressed sensing and nonlinear parallel imaging for dynamic cardiac magnetic resonance imaging.

Compressed Sensing (CS) and parallel imaging are two promising techniques that accelerate the MRI acquisition process. Combining these two techniques is of great interest due to the complementary information used in each. In this study, we proposed a novel reconstruction framework that effectively combined compressed sensing and nonlinear parallel imaging technique for dynamic cardiac imaging. Specifically, the proposed method decouples the reconstruction process into two sequential steps: In the first step, a series of aliased dynamic images were reconstructed from the highly undersampled k-space data using compressed sensing; In the second step, nonlinear parallel imaging technique, i.e. nonlinear GRAPPA, was utilized to reconstruct the original dynamic images from the reconstructed k-space data obtained from the first step. In addition, we also proposed a tailored k-space down-sampling scheme that satisfies both the incoherent undersampling requirement for CS and the structured undersampling requirement for nonlinear parallel imaging. The proposed method was validated using four in vivo experiments of dynamic cardiac cine MRI with retrospective undersampling. Experimental results showed that the proposed method is superior at reducing aliasing artifacts and preserving the spatial details and temporal variations, compared with the competing k-t FOCUSS and k-t FOCUSS with sensitivity encoding methods, with the same numbers of measurements.

The association of NF2 (neurofibromin 2) gene polymorphism and the risk of medulloblastomas.

To explore the relationship between NF2 promoter gene mutation and the risk of medulloblastomas (MBs). We collected tissues from 16 MB patients and 7 age-matched non-MB controls. Gene sequencing, qPCR (real-time quantitative polymerase chain reaction), IHC (immunohistochemistry), and WB (Western blot) were used to analyze the changes in the NF2 gene sequence and expression between patients and controls. We found that NF2 promoter gene mutations occurred in MB patients. The NF2 mRNA expression was higher in the controls than in patients (p = 0.03 < 0.05); however, the results of IHC and WB demonstrated that the NF2 protein expression was significantly higher in patients than in the controls (IHC: p = 0.0001; WB: p = 0.01). There was no significant difference in the CRL4 mRNA and protein levels. In addition, NF2 protein was mainly expressed in the nucleus in MB patients, while the NF2 protein was mainly expressed in the cytoplasm in the controls. NF2 promoter mutations exist in MB patients. NF2 mRNA expression was higher in controls than patients; whereas NF2 protein level was higher in patients than in controls.

Role of diffusion-weighted imaging for detecting bone marrow infiltration in skull in children with acute lymphoblastic leukemia.

PURPOSE: We aimed to determine whether diffusion-weighted imaging (DWI) with apparent diffusion coefficient (ADC) measurement can detect skull bone marrow infiltration in newly diagnosed acute lymphoblastic leukemia (ALL) children before therapy and normalization in complete remission after treatment. METHODS: Fifty-one newly diagnosed acute lymphoblastic leukemia (ALL) patients and 30 healthy age-matched subjects were included. Cranial magnetic resonance imaging (MRI) scans were reviewed, and skull marrow ADC values were compared before treatment and in complete remission after therapy. RESULTS: Skull marrow infiltration, manifested with abnormal DWI signals, was present in 37 patients (72.5%) before treatment. Of these, 23 (62.2%) showed scattered signal abnormalities and 14 (37.8%) showed a uniform abnormal signal pattern. Compared with the control group, ADC was significantly decreased in patients with ALL. DWI signal intensity and ADC normalized in patients with complete remission. CONCLUSION: DWI is a useful and noninvasive tool for detecting skull infiltration in ALL children before treatment and normalization at complete remission after therapy, and it is superior to conventional MRI in terms of conspicuity of these lesions. DWI could be used as an MRI biomarker for evaluation of treatment in ALL children.

Diffusion tensor imaging detects early brain microstructure changes before and after ventriculoperitoneal shunt in children with high intracranial pressure hydrocephalus.

To explore the use of diffusion tensor imaging (DTI) parameters in the quantitative assessment of early brain microstructure changes before and after ventriculoperitoneal shunt in children with high intracranial pressure hydrocephalus.Ten patients with communicating hydrocephalus (age: 2-36 months) and 14 age-/gender-matched controls (age: 2-36 months) were enrolled in this study. All patients underwent the ventriculoperitoneal shunt procedure. The imaging data were collected before and 3 months after the operation. Regions of interests (ROIs) included the white matter near the frontal horn of the lateral ventricles (FHLV), the occipital horn of the lateral ventricles (OHLV), occipital subcortical (OS) area, frontal subcortical (FS) area, and thalamus. Fractional anisotropies (FA) and apparent diffusion coefficients (ADC) of the ROIs before and after ventriculoperitoneal shunt were compared between the patients and the controls.Three months after surgery, the patients recovered from the surgery with ameliorated intracranial pressure and slight improvement of clinical intelligence scale and motor scale. Before ventriculoperitoneal shunt, the FA values (except the right FHLV) were significantly decreased and the ADC values were significantly increased in the patients with hydrocephalus, compared with the controls. After the ventriculoperitoneal shunt, the FA values in the FHLV and OHLV of the patients were similar to the controls, but the FA values in other ROIs were still significantly lower than controls. The ADC values in the FS and OS white matter areas of the patients were similar to the controls; however, the ADC values in other ROIs were still significantly higher in patients.The increase of FA and the reduction in ADC in the ROIs preceded the clinical function improvement in patients with high intracranial pressure hydrocephalus and reflected the early changes in brain tissue microstructure, such as the compression of the white matter areas in the ROIs.

Altered regional homogeneity in epileptic patients with infantile spasm: A resting-state fMRI study.

Infantile spasm (IS) syndrome is an age-related epileptic encephalopathy that occurs in children. The purpose of this study was to investigate regional homogeneity (ReHo) changes in IS patients. Resting-state fMRI was performed on 11 patients with IS, along with 35 age- and sex-matched healthy subjects. Group comparisons between the two groups demonstrate that the pattern of regional synchronization synchronization in IS patients is changed. Decreased ReHo values were found in default mode network, bilateral motor-related areas and left occipital gyrus of the patient group. Increased ReHo was found in regions of cingulum, cerebellum, supplementary motor area and brain deep nucleus, such as hippocampus, caudate, thalamus and insula. The significant differences might indicate that epileptic action have some injurious effects on the motor, executive and cognitive related regions. In addition, ReHo values of left precuneus and right superior frontal gyrus were associated with the epilepsy duration in the IS group. The correlation results indicate that the involvement of these regions may be related to the seizure generation. Our results suggest that IS may have an injurious effect on the brain activation. The findings may shed new light on the understanding the neural mechanism of IS epilepsy.

[Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria].

OBJECTIVE: To explore pathogenic mutation in a family affected with 2-hydroxyglutaric aciduria. METHODS: Exons of 3 candidate genes, including L2HGDH, D2HGDH and SLC25A1, were amplified with polymerase chain reaction and subjected to direct sequencing. RESULTS: DNA sequencing has found that the proband and his affected younger brother have both carried a heterozygous mutation c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene. The same mutation was not detected in the his sister who was healthy. Pedigree analysis has confirmed that the above mutation was inherited from the mother. No mutation was detected in exons and flanking sequences of the D2HGDH and SLC25A1 genes. CONCLUSION: Mutation of the L2HGDH gene probably underlies the 2-hydroxyglutaric aciduria in this family.

Longitudinal Changes in the Brain Following Third Ventriculostomy in a Child With Hydrocephalus: A Case Report.

The goal of this study was to detect the long-term effect of shunting on the integrity of white matter in young children with hydrocephalus.The authors reported the case of a 6-month-old boy with hydrocephalus who was evaluated by diffusion tensor imaging (DTI) before and after a shunt operation.When compared with normal children, the structures of the corpus callosum, internal capsule, and corona radiata in the patient showed a decrease in fractional anisotropy and an increase in radial diffusivity values before the shunt operation. Following successful cerebrospinal fluid shunting, long-term follow-up DTI demonstrated a trend toward normalization of the fractional anisotropy and radial diffusivity values.Shunt treatment can prevent further damage to the brain and grossly reconstitute the distorted anatomy. DTI could be a useful tool in detecting longitudinal changes after a shunt operation. Further studies involving larger case numbers are needed to detect the long-term effect of shunting on the brains of children with hydrocephalus.

Children With Intracranial Arachnoid Cysts: Classification and Treatment.

We performed a dynamic study of arachnoid cysts (ACs) using magnetic resonance cisternography (MRC) and proposed a classification of ACs.Twenty-three suitable patients in our hospital entered into this study according to our inclusion criteria. MRC images were collected in all the subjects at 1 and 24 hours after the administration of intrathecal gadolinium-diethylenetriamine penta-acetic acid (Gd-DTPA). We allocate the enrolled patients into 2 groups, MRC group and surgery group. The MRC results were considered before treatment in 1 group (MRC group, 13 patients), whereas another group was surgically treated without considering the MRC results (surgery group, 10 patients). We calculated the enhanced area of cyst using modified MacDonald Criteria from the images and measured the surrounding subarachnoid area as the reference.We found that it was practically useful to quantify 3 types of ACs, complete communicating, incomplete communicating, and noncommunicating, according to MRC results in this study. All the subjects in both groups are closely observed before the treatment and the follow-up using the MRI examination. In the surgery group, 5 patients were found that the area of cysts shrank in the follow-up stage. However, there was no significant difference in the percentage shrinkage area between the 2 groups.We concluded that MRC with Gd-DTPA as a contrast agent is of significant clinical value for the diagnosis and treatment of children with intracranial ACs. This classification based on dynamic MRC is useful for making surgical recommendations.

Application of MR virtual endoscopy in children with hydrocephalus.

PURPOSE: To evaluate the performance of MR virtual endoscopy (MRVE) in children with hydrocephalus. MATERIALS AND METHODS: Clinical and imaging data were collected from 15 pediatric patients with hydrocephalus and 15 normal control children. All hydrocephalus patients were confirmed by ventriculoscopy or CT imaging. The cranial 3D-T1 weighted imaging data from fast spoiled gradient echo scan (FSPGR) were transported to working station. VE images of cerebral ventricular cavity were constructed with Navigator software. RESULTS: Cerebral ventricular MRVE can achieve similar results as ventriculoscopy in demonstrating the morphology of ventricular wall or intracavity lesion. In addition, MRVE can observe the lesion from distal end of obstruction, as well as other areas that are inaccessible to ventriculoscopy. MRVE can also reveal the pathological change of ventricular inner wall surface, and help determine patency of the cerebral aqueduct and fourth ventricle outlet. CONCLUSION: MR virtual endoscopy provides a non-invasive diagnostic modality that can be used as a supplemental approach to ventriculoscopy. However, its sensitivity and specificity need to be determined in the large study.

Primary central nervous system extranodal NK/T cell lymphoma, nasal type, with antecedent hemophagocytic syndrome in a child.

Primary central nervous system (CNS) extranodal natural killer (NK)/T-cell lymphoma, nasal type (NKTCL), is an exceedingly uncommon entity. Here, we present a case of CNS NKTCL that manifested initially as hemophagocytic syndrome 4 months earlier in a 13-year-old girl. Histological examination revealed the cerebellum mass was composed of large-sized and atypical tumor cells, with an angiocentric and angiodestructive growth pattern and prominent necrosis. The tumor cells exhibited marked pleomorphism with conspicuous nucleoli and prominent mitotic activity. Immunohistochemical staining showed the tumor cells were positive for CD45, CD2, CD3ε, CD30, CD43, CD56, and granzyme B. Epstein-Barr virus--encoded ribonucleic acid was expressed in almost all of the nuclei of the lymphoma cells. The T-cell receptor γ chain gene rearrangement study showed no evidence of a clonal rearrangement. The patient was treated with etoposide and dexamethasone and died a few days after the operation. As far as we know, this case is the 1st pediatric and female patient of primary CNS NKTCL with antecedent hemophagocytic syndrome, which highlights the clinical data and is helpful for the diagnosis of this tumor.