Table of Content

15 January 2025 Volume 43 Issue 1

  

Standard • Protocol • Guideline

Expert consensus on family care for Duchenne muscular dystrophy (non-ambulatory stage)

Society for Neuroscience and Neurology, Chinese Research Hospital Association, SNN/CRHA

Journal of Clinical Pediatrics. 2025, 43(1):  1-7.  doi:10.12372/jcp.2025.24e1209

Abstract ( )   HTML ( )   PDF (1418KB) ( )  

References | Related Articles | Metrics

Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disorder characterized by progressive muscle weakness and eventual fatality. In recent years, more and more gene therapies have emerged, and comprehensive care throughout the disease course remains crucial for maximizing patient’s survival and quality of life. This consensus, developed through literature review, expert consultations, and clinical experience, provides guidance for managing following aspects of care in non-ambulatory DMD patients, including respiratory, cardiac, rehabilitation, skeletal, nutritional, digestive, dermatological, cognitive, and psychological care. This aims to provide a scientific and practical support for families caring for non-ambulatory DMD patients.

Original Article

Predictors of recurrent febrile seizures during the same febrile illness in children with febrile seizures

JIANG Weiqin, WANG Jing, CHENG Anna, CHEN Tingting, HUANG Yujuan

Journal of Clinical Pediatrics. 2025, 43(1):  8-13.  doi:10.12372/jcp.2025.24e0265

Abstract ( )   HTML ( )   PDF (1553KB) ( )  

Figures and Tables | References | Related Articles | Metrics

Objective This study aimed to identify the risk factors associated with the recurrence of seizures during the acute phase of febrile seizures (FS) in children. Methods A retrospective analysis of FS patients treated in the emergency department from January to December 2021 were conducted. Those with recurrent seizures during the acute phase were categorized as the recurrent febrile seizures group (RFS), while those with non-recurrent FS, matched for age and gender at a ratio of 1:2, were designated as the non-recurrent febrile seizures group (NRFS). Demographic data, clinical characteristics of seizures, and laboratory findings were compared between the RFS and NRFS groups. Significant variables from univariate analysis were subsequently included in a multivariate logistic regression analysis to explore the determinants of seizure recurrence in the acute phase of FS. Results Among the 204 enrolled patients, 68 were in the RFS group and 136 in the NRFS group. The RFS group exhibited shorter intervals from fever onset to seizure, a younger age at the initial FS episode, lower body temperature at the time of seizure, and higher neutrophil-to-lymphocyte ratio (NLR), monocyte-to-lymphocyte ratio (MLR), and C-reactive protein (CRP) levels, all of which were statistically significant (P<0.05). Multivariate logistic regression analysis revealed that a positive family history of FS (OR=8.157, 95% CI: 2.773-23.989), younger age at the first FS episode (OR=0.960, 95% CI: 0.928-0.994), higher MLR (OR=6.608, 95% CI: 1.505-29.020), and elevated CRP (OR=1.108, 95% CI: 1.041-1.180) were significant predictors of seizure recurrence during the acute phase of FS. The predictive model's performance was evaluated using the area under the receiver operating characteristic (ROC) curve, which was 0.871 (95% CI: 0.818-0.923), with a critical value of 0.30, yielding a sensitivity of 85.3% and a specificity of 76.5%. Conclusion A positive family history of FS, a younger age at the first FS episode, and elevated MLR and CRP levels are risk factors for the recurrence of seizures during the acute phase of FS in children. The use of logistic regression to develop a combined predictive factor offers a higher diagnostic value for identifying seizure recurrence in this phase.

Acute lymphoblastic leukemia with chemotherapy-related cerebral lesion: clinical and imaging features

ZHAO Min, TANG Jihong, XIAO Xiao, YANG Letian, XU Huan, WU Yinyin, FENG Juan

Journal of Clinical Pediatrics. 2025, 43(1):  14-20.  doi:10.12372/jcp.2025.24e0261

Abstract ( )   HTML ( )   PDF (1428KB) ( )  

Figures and Tables | References | Related Articles | Metrics

Objective To investigate the types, clinical and imaging features and prognosis of chemotherapy-related cerebral lesion in acute lymphoblastic leukemia (ALL), so as to improve the clinicians' understanding of this kind of brain injury. Methods The clinical data of children with ALL who developed chemotherapy-related cerebral lesion after receiving chemotherapy alone from June 2015 to June 2023 were retrospectively analyzed. Results A total of 46 children (24 boys and 22 girls) with chemotherapy-related cerebral lesion were enrolled. The median onset age of ALL was 5.6(3.7-10.2) years old. The median age of children with cerebral lesion treated by chemotherapy was 6.6(4.7-10.3) years old. First cerebral lesion occurred 2.0(1.0-8.0) months after the first systemic chemotherapy, including 34 cases (73.9%) of encephalopathy, 9 cases (19.6%) of neurovascular complications, and 3 cases (6.5%) of isolated neurological symptoms. Neurological symptoms occurred in 38 children. Seizures were the most common (26 cases), followed by dizziness or headache, paralysis, visual disturbance, etc. The lesions in children with encephalopathy were mainly distributed around the lateral ventricles, semi-oval center, the parietal lobe, the occipital lobe, and the frontal lobe. The main neurovascular complications were intracranial hemorrhage and cerebral thrombosis, among which the superior sagittal sinus was the most common site of venous thrombosis.Among 38 patients with obvious neurological symptoms, 30 patients showed rapid improvement in clinical manifestations and had a good prognosis. At the follow-up of 22 months, 29 of the 32 children with neuroimaging abnormalities showed improvement after review. Conclusions The clinical and neuroimaging manifestations of ALL with chemotherapy-related cerebral lesion were diverse, and the overall prognosis was good. Few children had symptomatic epilepsy sequelae. Early neuroimaging is helpful for early detection and intervention of cerebral lesion and better optimization of ALL treatment.

Clinical analysis of invasive fungal disease secondary to allogeneic hematopoietic stem cell transplantation in 424 children with thalassemia

LUO Mingjing, YU Jiaming, WANG Xiaodong, ZHANG Xiaoling, YU Yue, ZHANG Yu, WEN Feiqiu, LIU Sixi

Journal of Clinical Pediatrics. 2025, 43(1):  21-28.  doi:10.12372/jcp.2025.24e0023

Abstract ( )   HTML ( )   PDF (1512KB) ( )  

Figures and Tables | References | Related Articles | Metrics

Objective This study aims to investigate the clinical characteristics and risk factors of invasive fungal disease (IFD) following allogeneic hematopoietic stem cell transplantation (allo-HSCT) in children with transfusion-dependent thalassemia (TDT). Methods The clinical data of 424 children with TDT who received allo-HSCT from January 2021 to December 2022 were retrospectively analyzed, and the influencing factors of IFD after allo-HSCT were analyzed. Results A total of 424 TDT children undergoing allo-HSCT were included, 261 (61.6%) boys and 163(38.4%) girls, with a median age of 8.0 (5.0-11.0) years. Among them, there were 278 cases of haploidentical transplantation, 116 cases of matched or well matched related transplantation, and 30 cases of matched or well matched unrelated transplantation. All transplant patients received primary antifungal prophylaxis. A total of 30 patients (7.1%, 20 boys and 10 girls) had IFD, 25 patients (83.3%) were probable IFD and 5 (16.7%) were proven IFD. The median occurrence time of IFD was 39.0 (23.5-85.8) days after transplantation. The lung was the most common site of infection (24 cases, 80.0%). Cough (15 cases, 50.0%) and fever (10 cases, 33.3%) were the main symptoms. The pulmonary imaging findings were atypical (14 cases, 46.7%). The main fungal pathogen was Aspergillus (19 cases, 63.3%). Co-infection was detected in 17 cases (56.7%), and co-virus infection was most common. The median follow-up time was 16.0 (9.0-21.8) months, and the overall survival (OS) rate was (99.3±0.01) %. The OS rates of non-IFD group and IFD group were (99.7±0.003) % and (93.3±0.06)%, respectively, and the difference between the two groups was statistically significant (P<0.001). The results of binary logistic regression analysis indicated that poor graft function or graft failure, acute graft-versus-host disease (aGVHD) and antifungal prophylaxis of non-posaconazole were independent risk factors for development of IFD after allo-HSCT (P<0.05). Conclusions TDT children undergoing allo-HSCT and receiving primary fungal prophylaxis exhibited a low incidence of IFD, and IFD was associated with higher risk of death. Patients with a history of poor graft function/ graft failure, aGVHD or those receiving non-posaconazole prophylaxis faced a greater risk of developing IFD.

Risk factors analysis of severe refractory Mycoplasma pneumoniae pneumonia complicated with bronchitis obliterans in children

LIU Dongxia, JIN Rong, LIN Rongjun

Journal of Clinical Pediatrics. 2025, 43(1):  29-34.  doi:10.12372/jcp.2025.24e0129

Abstract ( )   HTML ( )   PDF (1946KB) ( )  

Figures and Tables | References | Related Articles | Metrics

Objective To explore the independent risk factors of severe refractory Mycoplasma pneumoniae pneumonia (SRMPP) complicated with bronchitis obliterans in children. Methods The clinical data of children with SRMPP admitted to the Department of Pediatrics from October 2021 to October 2023 were retrospectively analyzed. All patients were divided into two groups: one group had the sequelae of bronchitis obliterans (occluded group) and the other group had not bronchitis obliterans (non-occluded group), and the differences in clinical characteristics between the two groups were compared. Multivariate logistic regression was used to analyze the independent risk factors of SRMPP complicated with bronchiolitis obliterans, and receiver operating characteristic (ROC) curve was used to analyze the predictive value of each factor for SRMPP complicated with bronchiolitis obliterans. Results A total of 110 SRMPP children (60 boys and 50 girls) with a median age of 6.0 (4.0-8.0) years were included, 40 of whom were complicated with obliterated bronchitis. Multivariate logistic regression analysis showed that increased D-dimer level and plastic mucus plugs were independent risk factors for SRMPP complicated with bronchiolitis obliterans (P<0.05), while high levels of prealbumin were independent protective factor (P<0.05). ROC curve analysis showed that the areas under the ROC curve (AUC) of D-dimer increase, prealbumin decrease and plastic mucus plugs in predicting SRMPP complicated with bronchitis obliterans were 0.69, 0.74 and 0.70, respectively. Conclusions For SRMPP children with serum prealbumin level≤13.2 mg/dL,plasma D-dimer level≥1.85 mg/L, and plastic mucus plug formation, it is necessary to be alert to the occurrence of bronchitis obliterans.

Security analysis of dinutuximab β in the treatment of pediatric neuroblastoma

CHEN Jijun, LIN Suna, LI Linjie, TAO Zhaokun, MAO Junqing

Journal of Clinical Pediatrics. 2025, 43(1):  35-39.  doi:10.12372/jcp.2025.24e0458

Abstract ( )   HTML ( )   PDF (1438KB) ( )  

Figures and Tables | References | Related Articles | Metrics

Objective To investigate the clinical response and security of dinutuximab β immunotherapy in neuroblastoma children. Methods A retrospective analysis was performed on 13 children who received dinutuximab β immunotherapy in our hospital since 2022 to evaluate the adverse reactions, tolerability, safety and short-term efficacy during treatment. Result During the treatment of dinutuximab β, the main adverse reactions were fever, pain, gastrointestinal reactions (diarrhea/nausea/vomiting), capillary leakage syndrome, ocular toxicity, bronchospasm, rash, hematological toxicity and infection, which were basically grade 3 and below. After symptomatic treatment with some common drugs or adjustment of the infusion rate of dinutuximab β, it can be effectively alleviated with high security. With the advance of treatment cycle, the incidence of various side effects decreased, and the patients had a good tolerance to treatment. Conclusion The use of dinutuximab β immunotherapy for pediatric neuroblastoma has good safety and tolerability, and the adverse reactions gradually decrease or disappear with the increase of treatment cycle.

Clinical Report

The treatment of the first case of presymptomatic spinal muscular atropy in the Chinese Mainland: a case report with 43 months follow-up

LUO Zhiqiang, CHEN Li, LU Xinguo, LIAO Jianxiang, LUO Xufeng

Journal of Clinical Pediatrics. 2025, 43(1):  40-44.  doi:10.12372/jcp.2025.24e1153

Abstract ( )   HTML ( )   PDF (1580KB) ( )  

Figures and Tables | References | Related Articles | Metrics

An 43-month-old female baby, born in February 2021, got MLPA examination after birth because of the family history of SMA, and the results showed SMN1 gene exon 7, 8 homozygous deletions and two copies of SMN2 gene. The baby was admitted to the Department of Neurology of Shenzhen Children's Hospital for the first time in March 2021.Physical examination showed she had normal muscle strength and tone and good motor function, and therefore she was diagnosed with presymptomatic 5q SMA. Nusinersen intrathecal injection was given to the baby after all preparations were completed. She was subsequently multiple readmitted for the treatment and motor function assessment according to the medication plan. Up to now, the child has received a total of 14 treatments without interruption. And she was additionally treated with Risdiplam by her parents in January 2024. From the beginning until now, her breathing and eating functions have been normal, without scoliosis. Her motor development milestone is slightly delayed compared to normal children: head up stability and head up 90 degrees in prone position at 4-month, flip from supine position to prone position at 6-month, sit with hand support at 8-monthand sit alone at 9-month, walk by holding her one hand at 13-month, walk alone at 16-month, walk steadily at 19-month, play alone on a slide at 30-month, jump with both feet at 36-month, and her motor function score is lower than that of normal children. Currently, her various life skills and motor function performances are roughly similar to those of normal children of the same age.

Clinical characteristics and genetic analysis of a case of developmental delay caused by CHD1 gene variation

CHEN Hao, LI Xiao, LI Lin, GUAN Jing, DONG Yan, ZHANG Xiaoli, DU Kaixian

Journal of Clinical Pediatrics. 2025, 43(1):  45-49.  doi:10.12372/jcp.2025.24e0015

Abstract ( )   HTML ( )   PDF (1979KB) ( )  

Figures and Tables | References | Related Articles | Metrics

Objective To explore the clinical features and genetic mutation characteristics of a case of global developmental delay caused by a novel variant in the CHD1 gene, and to investigate its relationship with Pilarowski- Bjornsson syndrome (PILBOS, OMIM# 617682). Method Trio whole-exome sequencing (trio-WES) was performed to identify the pathogenic gene within the pedigree, and the clinical data of the patient were summarized to analyze both clinical and genetic characteristics. Result The patient was an 8-month-old male and presented to the Department of Pediatric Neurology at our hospital with the main complaint of " developmental delay for more than six months". Trio-WES detection revealed a missense mutation in exon 1 of the CHD1 gene on chromosome 5q15-q21, with a c.13A>G (p.Ser5Gly) mutation (transcript number NM_001270), which represented a novel (de novo) variation consistent with an autosomal dominant inheritance pattern. The final diagnosis was" Comprehensive developmental delay caused by CHD1 gene deficiency". Conclusion There are currently few reports on cases of CHD1 gene mutations, and the identified mutations in this case has not been previously documented. Expanding the genotype phenotype spectrum of CHD1 gene defects also provides data for further understanding of PILBOS disease. Accurate diagnosis relies on molecular genetic testing, and additional cases need to be accumulated for further analysis of genotype phenotype relationships and prognosis evaluation.

Literature Review

Progress in the research of infantile fiberoptic bronchoscopy sedation

ZHONG Jinhong, WANG Can, CHEN Fang

Journal of Clinical Pediatrics. 2025, 43(1):  50-55.  doi:10.12372/jcp.2025.24e0301

Abstract ( )   HTML ( )   PDF (1507KB) ( )  

References | Related Articles | Metrics

The use of fiberoptic bronchoscopy (FB) in pediatrics has been established over several decades, as an invasive airway procedure, FB is crucial for diagnosing and treating tracheal and pulmonary diseases in children. However, its application in pediatric patients is constrained by factors such as low patient cooperation, relatively narrow airways, and poor tolerance to hypoxia. Consequently, ensuring a safer and more comfortable FB examination and treatment for pediatric patients is imperative. Sedation and anesthesia during FB can significantly enhance the comfort and safety of the diagnostic and therapeutic procedures for pediatric patients. This review discusses recent advances in sedation techniques for pediatric patients undergoing FB and offers guidance for clinical practice.

Clinical progress in prevention and treatment of early parenteral nutrition-related "refeeding syndrome" in high-risk newborns

DING Wenwen, ZHU Feng, LUO Yujia, WEI Li

Journal of Clinical Pediatrics. 2025, 43(1):  56-60.  doi:10.12372/jcp.2025.24e0103

Abstract ( )   HTML ( )   PDF (1377KB) ( )  

References | Related Articles | Metrics

Refeeding syndrome is a metabolic disorder characterized by electrolyte disorder, mainly low phosphorus, low potassium and low magnesium, and its clinical manifestations are non-specific and diverse. It is common in malnourished and severe adult patients and is also found in high-risk newborns who receive early parenteral nutrition treatment. This article reviews the physiological mechanism, risk factors, clinical characteristics, prevention and treatment of parenteral nutrition-related neonatal refeeding syndrome.

Advances in real-world research on disease-modifying treatments for spinal muscular atrophy

WU Xian, LIU Yan, LIU Xinzhu, HUANG Xiaohui, MA Jing, XU A-jing, XIN Xiaodong, JIANG Wengao, ZHANG Jian

Journal of Clinical Pediatrics. 2025, 43(1):  61-69.  doi:10.12372/jcp.2025.23e0998

Abstract ( )   HTML ( )   PDF (1471KB) ( )  

Figures and Tables | References | Related Articles | Metrics

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder that leads to muscle weakness, atrophy, and which can lead to death in severe cases. Recently, therapeutic drugs that can modify SMA have emerged and have significantly improved the clinical symptoms and the quality of life of patients. However, the long-term efficacy and safety of these drugs are not yet established, and various confounding factors affecting drug efficacy need further analysis and study. This article reviews the real-world efficacy and safety studies of drugs for SMA modification drugs, intending to provide some new inspirations and thaughts for the precision and individualized treatment of SMA.

Continuing Medical Education

Medication therapy management of patients with spinal muscular atrophy during the perioperative period of scoliosis correction surgery

XING Xiaodong, LIU Yan, LIU Xinzhu, JIANG Wengao, ZHANG Jian

Journal of Clinical Pediatrics. 2025, 43(1):  70-76.  doi:10.12372/jcp.2025.24e1160

Abstract ( )   HTML ( )   PDF (1453KB) ( )  

References | Related Articles | Metrics

Spinal muscular atrophy (SMA), a devastating hereditary neuromuscular disease, is often complicated by scoliosis. While scoliosis correction surgery is frequently indicated to correct spinal deformities, it is not without significant risks, including the potential for infection, hemorrhage, and neurological damage. Consequently, the management of perioperative medications is of paramount importance for the prevention and control of these complications, as well as for facilitating patient recovery. However, the distinctive physiological and pathological characteristics of SMA, coupled with the lack of standardized protocols, present considerable challenges in perioperative medication management. This review article offers an in-depth examination of the perioperative medication therapy management for patients with SMA undergoing scoliosis surgery. It aims to establish an evidence-based framework and provide a reference for the judicious use of drugs in clinical settings.