Journal of Clinical Pediatrics

Childhood encephalopathy: a group of diseases associated with various diseases

ZOU Liping

Journal of Clinical Pediatrics. 2023, 41(9): 641-643. doi:10.12372/jcp.2023.23e0639

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Encephalopathy is a serious and complex disease that affects the structure and function of the brain, which can cause severe neurological symptoms and even death. Encephalopathy can be divided into two types: acute encephalopathy (acute brain dysfunction) and chronic encephalopathy (chronic brain dysfunction). Acute encephalopathy is a heterogeneous disorder consisting of multiple syndromes that can occur in any age group, but is commonest in infants and preschoolers. Acute encephalopathy can be classified according to the pathogens of previous infections, or biological and clinicopathological features, and the etiology is complex and diverse. Among them, acute necrotizing encephalopathy needs to be identified. Chronic encephalopathy in children includes developmental encephalopathy and chronic traumatic encephalopathy in children with family abuse. Children with encephalopathy can show cognitive impairment, language retardation, psychomotor retardation, and other manifestations of brain dysfunction such as convulsions. Genetic testing is one of the important methods to help identify the cause of chronic encephalopathy in children. The article introduces the different etiology and possible clinical symptoms of encephalopathy to help clinicians diagnose early and give timely treatment.

Beware of the pitfalls in diagnosis and treatment of autoimmune encephalitis in children

ZHANG Weihua, ZOU Liping, REN Haitao, GUAN Hongzhi

Journal of Clinical Pediatrics. 2023, 41(9): 644-649. doi:10.12372/jcp.2023.23e0455

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Over the past 15 years, the development of antibody detection technology led to the increased awareness of autoimmune encephalitis. However, the innovation has also brought about a certain proportion of misdiagnosis, and some patients have been treated improperly as a result. The main reasons for misdiagnosis include lax implementation of diagnostic criteria, incorrect interpretation of antibody test results, and insufficient differential diagnosis. Compared with adults, the symptoms of children with autoimmune encephalitis are more difficult to identify, and there are antibody spectrum and characteristics that are different from those of adults. The differential diagnosis of the disease involves a wider range, and its diagnosis and treatment face greater challenges. This article will summarize the diagnosis and treatment process of autoimmune encephalitis in children based on the current situation in China. The related pitfalls of diagnosis and treatment are interpreted and analyzed in order to help pediatricians improve accurate diagnosis and treatment of autoimmune encephalitis.

Prospect of gene therapy for developmental and epileptic encephalopathy

JI Taoyun

Journal of Clinical Pediatrics. 2023, 41(9): 650-655. doi:10.12372/jcp.2023.23e0540

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Developmental and epileptic encephalopathy (DEE) is a group of heterogeneous disorders characterized by early-onset epilepsy, abnormal electroencephalography and developmental retardation or regression. The etiology of DEE is complex, with high disability rate and fatality rate. With the development of next-generation sequencing technology, more and more genetic causes related to DEE have been discovered, which also deepens the acknowledgement on the pathogenesis of DEE. These researches provide a basis for exploring different treatment methods, especially gene therapy. It is expected that gene therapy will be carried out in the future to improve the prognosis of DEE.

Clinical analysis of autoimmune glial fibrillary acidic protein astrocytopathy in children

HOU Chi, CHEN Wenxiong, LIAO Yinting, WU Wenxiao, TIAN Yang, ZHU Haixia, PENG Bingwei, ZENG Yiru, WU Wenlin, CHEN Zongzong, LI Xiaojing

Journal of Clinical Pediatrics. 2023, 41(9): 656-660. doi:10.12372/jcp.2023.22e1735

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Objective To investigate the clinical characteristics, treatment and prognosis of autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A) in children. Methods The clinical data of children diagnosed with GFAP-A from June 2018 to July 2022 were retrospectively analyzed. Results Five patients were diagnosed with GFAP-A, including 3 boys and 2 girls, and the onset age was 11.0 (5.0-13.5) years. The commonest initial symptom was fever (4 cases), and the commonest neurological symptoms and signs were headache (5 cases) and neck rigidity with positive Kerning sign (5 cases). Cerebrospinal fluid examination (CSF) in acute stage showed elevated white blood cell count and protein level in 4 cases and protein-cell separation in 1 case. The median CSF GFAP antibody titer was 1:10 (1:10-1:100), and 1 patient had combined N-methyl-D-aspartate receptor (NMDAR) antibody. The commonest magnetic resonance imaging (MRI) findings were cerebral leptomeningeal enhancement (4 cases). In acute phase, all children received first-line immunotherapy (high-dose intravenous methylprednisolone combined with intravenous immunoglobulin), and 4 children had a good response. One patient with positive CSF NMDAR antibody had no response to first-line treatment, but improved after rituximab treatment. During a follow-up of 8.0 (4.0-36.0) months, no neurological sequelae associated with the disease were detected. Conclusions The commonest symptoms and signs of GFAP-A in children are fever, headache and meningeal irritation, and leptomeningeal enhancement is the commonest MRI change. Most children have a good response to first-line immunotherapy and have a good prognosis during follow-up.

Clinical characteristics of mitochondrial encephalomyopathy in children

ZHUO Muqing, LI Xiaojing, PENG Bingwei, ZHU Haixia, TIAN Yang, ZHENG Kelu, GAO Yuanyuan, WU Wenxiao, WU Wenlin, CHEN Zongzong, CHEN Wenxiong, CAO Binbin

Journal of Clinical Pediatrics. 2023, 41(9): 661-667. doi:10.12372/jcp.2023.22e1600

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Objective To explore the clinical features of mitochondrial encephalomyopathy (ME) in children in southern China. Methods The clinical data of children diagnosed with ME from January 2015 to August 2022 were retrospectively analyzed. Results Thirty-six children with ME (22 boys and 14 girls) were included, and the onset age was 6.8 (2.1-10.8) years old. The onset symptoms were stroke-like episodes (24 cases), exercise intolerance (7 cases), ptosis (3 cases) and mental retardation (2 cases). Neuromuscular symptoms during the course of the disease included seizures (17 cases), headache (11 cases), paralysis (11 cases), ataxia (10 cases), ptosis of the upper eyelid (7 cases), mental/motor retardation (7 cases), blurred vision (6 cases), disturbance of consciousness (3 cases), and psychobehavioral abnormality (2 cases). Other non-neuromuscular symptoms included fever (7 cases), vomiting (6 cases), slow weight gain (5 cases), abdominal pain (2 cases), urinary retention (1 case), intestinal obstruction (1 case), and respiratory failure after sedation (1 case). The clinical phenotypes included mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) (16 cases), Leigh syndrome (LS) (11 cases), myoclonus epilepsy with ragged-red fibers (MERRF) (3 cases), Kearns-Sayre syndrome (KSS) (2 cases), and unclassifiable types (4 cases). The blood lactic acid of resting phase was increased in 71.4% of the children, and cerebrospinal fluid lactic acid was increased in 95.2% of the children. There was statistically significant difference between blood lactic acid of resting phase and cerebrospinal fluid lactic acid (P<0.05). Abnormal brain MRI was found in 31 children, mostly involving the parietal lobe (15 cases), occipital lobe (14 cases), basal ganglia (13 cases), brainstem (10 cases) and thalamus (8 cases). Long segmental spinal cord abnormal signals were found in 2 cases of LS. Typical broken red fibers were seen by muscle biopsy in 2 children. Genetic examination found mtDNA variations in 81.8% of the children. Conclusions The onset age of ME in children is around the age of 6. Stroke like attack is the commonest onset symptom. MELAS is the commonest clinical phenotype. The levels of resting blood lactic acid and cerebral spinal fluid lactic acid may increase. Head MRI shows that ME often involves the parietal and occipital lobe, basal ganglia, brainstem and thalamus. The results of genetic examination are mainly mtDNA variations.

Clinical analysis of idiopathic and symptomatic occipital lobe epilepsy in children

YANG Yating, CAI Yuehao, FANG Qiong, CHEN Lang, CHEN Qiaobin, LIN Zhi, WU Feifei, LIN Meng

Journal of Clinical Pediatrics. 2023, 41(9): 668-673. doi:10.12372/jcp.2023.22e1059

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Objective To investigate the clinical characteristics and treatment of idiopathic and symptomatic occipital lobe epilepsy in children. Methods The clinical data of children with occipital lobe epilepsy diagnosed from April 2013 to April 2022 were retrospectively analyzed. The patients were divided into idiopathic group (including early-onset group and late-onset group) and symptomatic group. The clinical characteristics, auxiliary examination results and treatment were compared between the groups. Results A total of 80 children (28 girls and 52 boys) with occipital lobe epilepsy were included. The median age of onset was 7.0 (5.0-7.0) years old and the median course of disease was 1.7 (1.0-2.5) years. There were 38 children in the early-onset group, 24 in the late-onset group and 18 in the symptomatic group. The age of onset, the proportion of head eye deflection, autonomic nervous symptoms, visual hallucinations, eye clonus, eyelid flutter and falls, and the proportion of abnormal vision and nervous system positive signs during physical examination existed significant differences among the three groups (P<0.05). The proportion of intelligence test score below normal and head MRI abnormalities, and the incidence of abnormal background, bilateral occipital discharge and eye closure sensitivity in the interictal electroencephalogram (EEG) were significantly different among three groups (P<0.05). There were statistically significant differences in the proportion of antiepileptic therapy, monotherapy and the utilization rate of sodium valproate, levetiracetam and topiramate among the three groups (P<0.05). Conclusions The clinical characteristics of idiopathic and symptomatic occipital lobe epilepsy in children are different. The corresponding treatment plan need to be formulated based on the comprehensive evaluation of clinical seizure forms, head imagings and EEG characteristics.

Pediatric autoimmune encephalitis with brain MRI showing meningeal thickening and enhancement

HOU Ruolin, WU Jing, LI Ling

Journal of Clinical Pediatrics. 2023, 41(9): 674-679. doi:10.12372/jcp.2023.22e0450

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Objective To investigate the clinical characteristics of autoimmune encephalitis (AE) in children with meningeal thickening and enhancement. Methods The clinical data of children diagnosed with AE and their brain magnetic resonance imaging (MRI) showing meningeal thickening with enhancement from December 2019 to February 2022 were retrospectively collected and analyzed, and the prognosis was followed up. Results A total of two boys were enrolled with onset age of 5 and 12 years old, respectively. The initial symptom of both patients was status epilepticus and disturbance of consciousness. Of them, case 1 had preceding infection, and still experienced repeated seizures during hospitalization, accompanied by gradual speech dysfunction and psycho-behavioral abnormality. The cerebrospinal fluid (CSF) results of case 1 indicated slightly leukocytosis, elevated protein (691.5mg/L) and significantly increased immunoglobulins (IgG 68.9mg/L, IgA 5.32mg/L and IgM 3.72mg/L). The antibodies associated with AE was negative in either serum or CSF. Case 2 was accompanied by central respiratory failure. The CSF results indicated slightly leukocytosis, elevated protein (617.6 mg/L) and IgA (3.17 mg/L), and positive anti-AMPAR1 antibody in serum. The serum and CSF next generation sequencing of pathogen was negative in both patients. Brain MRI of both patients showed meningeal thickening and enhancement. The electroencephalogram of the two patients showed background slow wave, and case 1 was accompanied by epileptic discharge. Two cases were diagnosed with AE. Simultaneously, the MRI findings of both was consistent with the feature of hypertrophic pachymeningitis (HP). Both of them obtained good prognosis after immunotherapy and anti-epileptic drug treatment. Conclusions For the children with meningeal thickening and enhancement on head MRI, the detection of AE-related antibodies can be completed in time. Early diagnosis and timely treatment are of great significance for improving prognosis.

Diagnosis and treatment characteristics and long-term follow-up of 51 cases of infantile neuroblastoma

XU Quan, YUAN Xiaojun

Journal of Clinical Pediatrics. 2023, 41(9): 680-685. doi:10.12372/jcp.2023.22e1756

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Objective The clinical characteristics, diagnosis and treatment characteristics and long-term curative effect of the children with neuroblastoma (NB) at the age of less than 12 months were analyzed to provide evidence-based basis for further optimizing the treatment of infantile NB patients. Methods The clinical data of infantile NB patients admitted from January 2008 to December 2018 were retrospectively analyzed, and the clinical characteristics and prognostic factors of the children were summarized. Results The median age of diagnosis in 51 NB infants (34 boys and 17 girls) was 7.5 (3.8-10.1) months, and abdominal mass (27 cases, 52.9%) was the commonest reason for medical treatment. The most frequently-occurring sites of tumors were adrenal gland (21 cases, 41.4%) and retroperitoneum (19 cases, 37.2%). Bone marrow, liver and bone were the commonest sites of metastasis. The amplification frequency of MYCN gene was 11.3% (5/44). Forty-nine NB patients underwent surgery, of whom 8 were treated with surgical resection alone, 13 were treated with surgery after chemotherapy, and 28 were treated with surgery before chemotherapy. Of the remaining patients, 1 received chemotherapy alone and 1 did not receive any treatment except follow-up. The median follow-up time was 78.5 (72.1-124.0) months. A total of 49 patients survived without an event. Two patients died. The 6-year overall survival rate and the 6-year event-free survival rate were both (96.1±2.7)%. Univariate analysis revealed that tumor staging, distant metastasis, bone marrow metastasis, bone involvement, risk grouping, MYCN amplification, serum neuron-specific enolase and lactate dehydrogenase levels at initial diagnosis were factors affecting prognosis (P<0.05). Conclusions Infantile NB patients have a good long-term prognosis. It should be expected to further reduce the intensity of chemotherapy for patients without MYCN amplification.

Analysis of prognostic factors and survival status of group 4 medulloblastoma in children

WU Yuefang, SUN Yanling, WU Wanshui, DU Shuxu, LI Miao, SUN Liming

Journal of Clinical Pediatrics. 2023, 41(9): 686-691. doi:10.12372/jcp.2023.22e1634

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Objective To investigate the survival status and prognostic factors of group 4 medulloblastoma (MB) in children. Methods The clinical data of children with group 4 MB admitted to the Department of Pediatrics from May 2016 to August 2020 (follow-up until August 2022) were retrospectively analyzed. The Kaplan-Meier method was used to calculate the overall survival (OS) rate and progression-free survival (PFS) rate. Log-rank test was used to compare the difference in survival rate between groups, and Cox regression model was used to analyze the factors affecting prognosis. Results A total of 145 children (106 boys and 39 girls) with group 4 MB were included, and the median age of diagnosis was 7.5 (5.7-9.6) years old. There were 91 children in M₀ stage and 54 children in M₊ stage (1 in M₁ stage, 12 in M₂ stage and 41 in M₃ stage). The pathologic types were classic in 127 cases, desmoplastic/nodular (DN) in 8 cases, anaplastic/large cell (LC/A) in 8 cases, extensive nodularity (EN) in 1 case, and none of somatotype (NOS) in 1 case. The median follow-up time was 47.9 (36.5-59.3) months, and 37 children had tumor recurrence. The 5-year OS and PFS rates were (80.8±3.4) % and (55.4±4.7) %, respectively. Cox regression analysis indicated that M₊ stage, MYCN amplification and Chr12p+ variation were independent risk factors for prognosis (P<0.05). Conclusions Group 4 MB children with M₊ stage or MYCN amplification have a relatively poor prognosis. Chr12p + may be related to the prognosis of children, but it needs to be confirmed by clinical studies with larger samples.

Clinical analysis of fulminant myocarditis in 12 children

SUN Juan, LI Haiying, JIA Peisheng, WANG Huaili

Journal of Clinical Pediatrics. 2023, 41(9): 692-696. doi:10.12372/jcp.2023.23e0168

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Objective To analyze the clinical characteristics of fulminant myocarditis (FM) in children, and to provide references for the clinical decision-making of pediatricians. Methods The clinical data of children with FM who were hospitalized in the pediatric intensive care unit (PICU) from October 2019 to October 2022 were retrospectively analyzed. Results Twelve children with FM (5 boys and 7 girls) were included. The median age was 10.0 (5.6-12.6) years, the median time from onset of disease to treatment was 5.0 (3.0-6.0) days, and the median length of hospital stay was 12.0 (11.0-16.8) days. Twelve patients had no specific symptoms, 11 had circulatory symptoms, and 1 had gastrointestinal symptoms only. The onset symptoms were as follows: 8 children had digestive symptoms, 5 children had neurological symptoms, 2 children had both digestive and neurological symptoms, and 1 child had respiratory symptoms. The levels of myocardial troponinⅠ(cTnⅠ), brain natriuretic peptide (BNP) and lactate dehydrogenase (LDH) were elevated in all children. The median cTnⅠ level was 5.5 (1.4-12.6) ng/L, the median BNP level was 11630.0 (6440.0-28152.0) pg/mL, and the median LDH level was 642.0 (465.5-1194.3) U/L. The myocardial troponin T (cTnT) level was elevated in 11 patients (1 child undetected), and the median cTnT level was 1.2 (0.3-3.9) ng/L. The levels of serum creatine kinase (CK) and creatine kinase isoenzyme (CK-MB) were elevated in 9 patients, the median CK level was 348.5 (99.3-674.8) U/L, and the median CK-MB level was 35.4 (24.5-97.2) U/L. The D-dimer levels were elevated in 10 patients, and the median D-dimer level was 1.7 (0.6-3.3) mg/L. Electrocardiogram and echocardiography were abnormal in all patients after admission. Three patients were treated with extracorporeal membrane oxygenation (ECMO). Ten patients (83.3%) were discharged after improvement, and 2 died. Conclusions The onset symptoms of FM in children are atypical. The positive rates of myocardial enzyme, electrocardiogram and echocardiography were high. ECMO is an effective method to treat FM.

Clinical analysis of 8 children with BRAF gene variation

OU Yuexu, DUAN Yuanhui, CAO Jie, LI Jieling

Journal of Clinical Pediatrics. 2023, 41(9): 697-702. doi:10.12372/jcp.2023.22e1562

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Objective To investigate the variants and clinical characteristics of BRAF gene. Methods The clinical data and types of gene variation in 8 cases of children with BRAF gene variation were retrospectively analyzed. Results Eight children had BRAF gene variations, four of which were derived from germ cells and the other four from somatic cells. The 4 patients with BRAF gene variations from germ cells all showed clinical features of cardio-facio-cutaneous (CFC) syndrome, which is an extremely rare disease. They all have special facial features, developmental retardation, skin and hair abnormalities, and some children also have epilepsy, heart malformation and other manifestations. They were all new variations in the BRAF gene, but the variation sites were different. Of the 4 children whose BRAF gene variations originated from somatic cells, 2 presented with Langerhans cell histiocytosis (LCH), and the other 2 presented with central nervous system malignant tumors. Conclusions When BRAF gene variation occurs in germ cells, children can develop severe developmental disorders that can present as clinical features of CFC syndrome. When BRAF gene variation occurs in somatic cells, it can cause tumors and LCH, etc.

Research progress on early screening and diagnosis of Crohn's disease in children

Reviewer: WANG Chenhui, Reviser: YANG Hui

Journal of Clinical Pediatrics. 2023, 41(9): 708-714. doi:10.12372/jcp.2023.22e0604

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Crohn's disease (CD) is a chronic nonspecific gastrointestinal inflammatory disease. The onset of CD in children is insidious, the clinical manifestations are lack of specificity, and early diagnosis is difficult, which leads to the increased complications, surgical rates and disability rates. Early screening and diagnosis, timely intervention can improve the therapeutic effect and prognosis of children, and improve the life quality of children. This article reviews the progress of early screening and diagnosis of CD in children.

Application of gene sequencing technology in precise diagnosis and mechanism research of monogenic lupus

YANG Zhibo, LIU Li

Journal of Clinical Pediatrics. 2023, 41(9): 715-720. doi:10.12372/jcp.2023.22e1331

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Monogenic lupus is a general term for a class of autoimmune diseases with lupus like symptoms, which is usually diagnosed in childhood. Although it is rare for a single gene variant to cause systemic lupus erythematosus (SLE), understanding its principle is helpful for clinicians to gain a deep understanding of SLE. In recent years, with the widespread application of gene sequencing, many new variations have been discovered. This review is to further understand monogenic lupus from known variations and pathogenic pathways, in order to provide a new development direction for patients with lupus to find more accurate diagnostic markers and formulate more personalized treatments, and also to provide possible targets for the research and development of new drugs for such disease.

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