Journal of Clinical Pediatrics

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Journal of Clinical Pediatrics. 2021, 39(8): 560. doi:10.3969/j.issn.1000-3606.2021.08.000

Abstract ( 207 )

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The revision of the definition of rare diseases in China from the perspective of clinical epidemiology

LI Dingguo, WANG Lin, XU Xiaoxing

Journal of Clinical Pediatrics. 2021, 39(8): 561. doi:10.3969/j.issn.1000-3606.2021.08.001

Abstract ( 298 )

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Analysis of clinical characteristics of childhood Miller-Fisher syndrome

QIU Ling, CAO Jie

Journal of Clinical Pediatrics. 2021, 39(8): 565. doi:10.3969/j.issn.1000-3606.2021.08.002

Abstract ( 540 )

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Objective Analyze the clinical features and pathogenesis of Miller-Fisher syndrome (MFS) in children. Methods The clinical data of 19 patients with MFS who were hospitalized in children’s Hospital Affiliated to Chongqing Medical University from 2010 to 2020 were retrospectively analyzed, including the inducement, onset form, clinical manifestation, auxiliary examination, treatment and efficacy of all patients. Results Among the 19 cases, 14 were male and 5 were female, with an average age of 4 years and 7 months. The main manifestations were ophthalmoplegia, ataxia, weakening or disappearance of tendon reflex, accompanied by facial paralysis, dysarthria, muscle or joint pain, fatigue, dysphagia and so an. Cerebrospinal fluid (CSF) was examined in 18 children, 14 of whom had CSF protein cell separation. The neuroelectrophysiological examination showed that the peripheral nerve and nerve root were damaged. Ganglioside antibody was detected in 6 children, and no abnormality was found in MRI or CT. All the patients were treated with nutritional nerve therapy. In addition, 3 patients were treated with hormone alone, 12 patients were treated with gamma globulin alone, and 3 patients were treated with gamma globulin and hormone. The clinical symptoms of all the patients were significantly improved at the time of discharge. Conclusions The clinical manifestations of children with MFS are highly complex and atypical. We should pay attention to the detailed history and physical examination, and actively improve the detection of cerebrospinal fluid, neuroelectrophysiological examination and ganglioside antibody to make a clear diagnosis. The prognosis was good after treatment with gamma globulin or hormone.

Multiple congenital malformation-hypotonia-epilepsy syndrome type 2: three cases report and literature review

HUA Ying, SUN Shaoxia, LI Yufen, et al

Journal of Clinical Pediatrics. 2021, 39(8): 569. doi:10.3969/j.issn.1000-3606.2021.08.003

Abstract ( 619 )

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Objective To analyze and summarize the clinical, EEG and genotype characteristics of three children with multiple congenital malformation hypotonia epilepsy syndrome type 2 (MCAHS 2 ). Method The clinical data of three children with MCAHS2 diagnosed in our hospital since March 2017 were collected. Peripheral blood samples of 3 children and their parents were collected for whole exo sequencing, and Sanger sequencing was used to confirm the candidate variants. Results All the three children were boys with onset age of 10 months, the types of epileptic seizures were focal seizures and focal secondary generalized seizures. In addition, child three had myoclonic seizures, children one and three had status epilepticus, and children one and two had strong heat sensitivity. All the three children had different degrees of intellectual disability, facial dysmorphism and brain MRI abnormalities. EEG showed diffuse slow waves in the background, multifocal spikes in the interval or mixed with focal discharges. Variants in PIGA was found in all three children, and the variants were c. 713 A>G（p.K238R）、c. 241C>T (p.R81C) and c. 356G>A（p.R119Q), respectively. Conclusion MCAHS 2 is a rare disease with X-linked recessive inheritance which mainly caused by missense mutation in PIGA. The clinical phenotype is extensive, the epileptic seizure form is diverse, and has certain heat sensitivity. EEG showed various patterns.

Two cases report of pyridoxal-reponsive epilepsy-encephalopathy caused by KCNQ2 gene mutation and literature review

CHEN Jun, YUAN Meng, LI Yang, et al

Journal of Clinical Pediatrics. 2021, 39(8): 574. doi:10.3969/j.issn.1000-3606.2021.08.004

Abstract ( 568 )

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Objective To study the clinical features and treatment of pyridoxal-reponsive epilepsy encephalopathy caused by KCNQ 2 gene mutation. Methods The clinical data of two patients diagnosed with pyridoxal-responsive epilepsy encephalopathy caused by KCNQ 2 gene mutation were retrospectively analyzed, and related literature were reviewed. Results Case 1 is a female child with onset age of 6 days after birth, and case 2 is a male child with onset age of 7 months of age, both of them showed refractory seizures, accompanied by mental and motor developmental retardation. Treatment with sodium channel blockers and other anti-epileptic drugs is ineffective. The number of seizure attack gradually decreased after the add-on treatment of high-dose vitamin B6 . Pathogenetic variations of KCNQ 2 were confirmed by genetic testing: c. 2312 C>T; p.Thr 771 Ile and c.873G>C; p.Arg 291 Ser. Conclusion The age of onset of epilepsy caused by KCNQ 2 gene mutation is early, often combined with mental and motor retardation. In patients who have no effect on sodium channel blocker treatment may have pyridoxal dependence, which could try the high-dose of vitamin B6 treatment.

Metagenomic next-generation sequencing for diagnosis of Angiostrongylus cantonensis meningitis in children

LUO Zhiqiang, LIAO Jianxiang

Journal of Clinical Pediatrics. 2021, 39(8): 579. doi:10.3969/j.issn.1000-3606.2021.08.005

Abstract ( 365 )

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Objective To explore the feasibility of blood metagenomic next-generation sequencing-based diagnosis of Angiostrongylus cantonensis （AC） meningitis in children. Methods The blood and cerebrospinal fluid (CSF) of the children diagnosed as intracranial infection in the Department of Neurology, Shenzhen Children's Hospital from July 2017 to December 2019 were simultaneously sent to Shenzhen Huada Gene Company for mNGS examination. And comprehensive analysis was performed on the clinical data and mNGS results of children with AC meningitis. Results Two cases of AC meningitis were confirmed among the 65 children with blood and CSF sent for mNGS examination. Case one was an 11 -month-old female infant, and Case two was a 20 -month-old male infant. Both of the two cases were misdiagnosed at the beginning of the disease, and had a history of exposure to uncooked freshwater aquatic products, and were in critical condition and underwent long-term PICU hospitalization. The eosinophil ratio in the blood and CSF of two cases was significantly increased, and the brain MRI enhanced scan of two cases showed meningeal enhancement. In case one, AC was detected in both blood and CSF mNGS, and the sequence number was 90 and 4059 , respectively. In case one, AC was also detected in both blood and CSF mNGS, and the sequence number was 529 and 718 , respectively. The two cases were cured after treatment with albendazole and low dose glucocorticoid. Conclusion Blood mNGS examination is expected to be a non-invasive, rapid and accurate new method for the diagnosis of AC meningitis in children.

A report of two cases with RARS2 gene mutation in a family and literature review

ZHANG Tong, TANG Jihong, WANG Manli, et al

Journal of Clinical Pediatrics. 2021, 39(8): 583. doi:10.3969/j.issn.1000-3606.2021.08.006

Abstract ( 678 )

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Objective To explore the clinical characteristics of children with RARS 2 gene variation and to review the literature. Methods Clinical data of two siblings with RARS 2 mutation were retrospectively analyzed, and the data of 35 children with RARS 2 gene variation in the literature were reviewed. Results Both case one and case two were female with the onset of the disease at the age of 4 months, presenting with feeding difficulties, intractable focal seizures, hypotonia, microcephaly, and transient or continuous increased actic acid. Brain MRI in case one showed progressive cerebral atrophy, right subcranial plate hemorrhage, and abnormal signals in the right basal ganglia. She died at the age of 1 year and 4 months. Brain MRI in case 2 showed abnormal signals in bilateral temporal region and progressive cerebral atrophy. Gene detection identified compound heterogeous mutations c. 1157 G>T （p.R386 L） and c.1210A>G （p.M 404V） in RARS2 gene. A total of 37 cases of children, 37 . 2 % male and 62 . 8 % female, were found in the literature. Most of them started the disease within 6 months, with clinical manifestations including epileptic seizure, psychomotor development stagnation or regression, feeding difficulties, decreased muscle tone and microcephaly. Most of the children with increased blood, cerebrospinal fluid lactic acid and pontocerebellar dysplasia. A total of 33 RARS2 gene mutation sites were found. Conclusion Seizures, feeding difficulties, psychomotor retardation or regression, microcephaly, dystonia, increased lactic acid and pontocerebellar hypoplasia, which mayindicate the possibility of RARS2 gene variants, and genetic testing can be diagnostic. Prognosis of this diorder is poor.

A case report of children with MOG seropositive cortical encephalitis and literature review

PENG Mengfei, QU Zhenghai, ZHANG Ying, et al

Journal of Clinical Pediatrics. 2021, 39(8): 588. doi:10.3969/j.issn.1000-3606.2021.08.007

Abstract ( 870 )

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Objective To investigate the clinical characteristics of anti-myelin oligodendrocyte glycoprotein (MOG)- associated cortical encephalitis. Methods The clinical data of a children with MOG seropositive cortical encephalitis were analyzed, “MOG” and “encephalitis” were used as keywords to retrieve and review the relevant cases reported in the past 10 years for analysis. Combined with 34 patients in the retrieved literature to summerize the clinical characteristics of antiMOG-associated cortical encephalitis. Results A 10 -year-old female patient mainly presented with epileptic seizures (focal seizures); brain magnetic resonance imaging (MRI) revealed frontal and parietal cortex involvement; the clinical symptoms and brain MRI changes disappeared after antiepileptic drug and glucocorticoid treatment. Conclusion For patients with epilepsy, fever, cortical syndrome and cortical damage by brain MRI, attention should be paid to screen MOG antibody

Early infantile-onset epileptic encephalopathy caused by WWOX commpound heterozygous mutation: a case report and literature review

TIAN Yang, SHI Zhen, HOU Chi, et al

Journal of Clinical Pediatrics. 2021, 39(8): 592. doi:10.3969/j.issn.1000-3606.2021.08.008

Abstract ( 600 )

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Objective To identify etiology of a child with early infantile-onset epileptic encephalopathy. Methods Clinical data of a child with early infantile-onset epileptic encephalopathy were collected. DNA was extracted from peripheral blood of the child and his parents. Whole exome sequencing and copy number variation were performed, and the result was confirmed by Sanger sequencing. The relevant literature of WWOX gene was reviewed. Result The patient was a three-monthold boy who was taken to hospital for repeated seizures in a month, manifested as multiple focal seizures and infantile spasms, and the phenotype of his parent is normal. Compound heterozygous mutaions of c.183C>G (p.Tyr61*) inherited from his mother and c.178-16T>G inherited from his father in WWOX gene were detected in the proband, which were classified as “likely pathogenic” and “uncertain”, respectively, according to the American Society for Genetics and Genomics Guidelines. After oral administration of levetiracetam combined with nitrazepam, the child still suffered from recurrent epilepsy, with serious mental and motor developmental retardation, and hypotonia. There were 22 articles in languages other than Chinese provided case data of more than 30 mutation loci in 64 patients, compound heterozygous and homozygous mutations were the two commonest, and the latter mostly coming from consanguineous families in the Middle East, who were mainly manifested as early infantile-onset epileptic encephalopathy. Conclusion The study identified a novel compound heterozygous mutation of WWOX gene in a child with early infantile-onset epileptic encephalopathy, providing basis for family genetic counseling; seizures caused by WWOX gene mutation are refractory to medicine administration.

Feasibility of the neoadjuvant chemotherapy for children with hepatoblastoma diagnosed by serum alphafetoprotein

LIAO Xuelian, JIANG Shayi ,YANG Jingwei, et al

Journal of Clinical Pediatrics. 2021, 39(8): 596. doi:10.3969/j.issn.1000-3606.2021.08.009

Abstract ( 337 )

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Objective Surgical pathology is the gold standard for the diagnosis of hepatoblastoma, but when the tumor is large and the general condition is poor, even the biopsy will put the child at greater risk. Wethether neoadjuvant chemotherapy can be carried out according to clinical diagnosis is still lack of research reports. The purpose of this study was to investigate the feasibility of neoadjuvant chemotherapy based on elevated serum alpha-fetoprotein (AFP) and liver imaging in the clinical practice of pediatric hepatoblastoma. Methods A retrospective analysis was made on clinical data of 80 children with primary hepatic space-occupying lesions admitted to a single center in the past 5 years, including 50 cases of hepatoblastoma and 30 cases of non-hepatoblastoma. Among the 50 children with hepatoblastoma, those who had pathological evidence before neoadjuvant chemotherapy were classified as the pathological treatment group, and those who started chemotherapy according to the clinical diagnosis of hepatoblastoma based on the elevation of AFP were assigned to the empirical chemotherapy group. The consistency of clinical diagnosis with pathological diagnosis and the survival of the two groups were. Results According to the elevation of serum AFP, the liver primary occupying lesions in children was clinically determined as hepatoblastoma. The sensitivity and specificity were 98 % and 100 %. There was no significant difference in overall survival (OS) and event-free survival (EFS) between the two groups by the log-rank test. Conclusions The diagnosis of hepatoblastoma based on the elevated serum AFP can be used to guide the preoperative neoadjuvant chemotherapy in children with poor surgical tolerance and to minimize the risk of treatment.

Value of early treatment response to assess prognosis of children with acute lymphoblastic leukemia

LI Hong, SHAO Jingbo, ZHU Jiashi, et al

Journal of Clinical Pediatrics. 2021, 39(8): 600. doi:10.3969/j.issn.1000-3606.2021.08.010

Abstract ( 394 )

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Objective To retrospectively analyze the value of early treatment response to assess prognosis of children with acute lymphoblastic leukemia (ALL). Methods Two hundred and twenty newly diagnosed ALL patients from April 2015 to December 2019 were included in this study. CCCG-ALL 2015 regime was given to these patients. Bone marrow cytology and minimal residual disease were detected to evaluate the early treatment response on the Day 19 and Day 46 after induction treatment. Results A total of 92 females and 128 males were enrolled in this study. The median age was 5 . 1 years, and the median follow-up time was 45 months. The induced remission rate was 97 . 7 %, the long-term survival rate was 94 . 6 %, the mortality rate was 5 . 4 %, and the recurrence rate was 6 . 8 %. The 5 -year cumulative recurrence rate was ( 9 . 4 ± 2 . 4 )%, and the median recurrence time was 32 months. The 5 -year EFS was ( 87 . 5 ± 2 . 6 )%, and the 5 -year OS was ( 92 . 7 ± 2 . 2 )%. The difference among three groups (low-risk group, medium risk group and high-risk group) was statistically significant (P< 0 . 05 ). The 5-year EFS rate of MRD-negative and positive groups on day 19 of induced therapy were (94.4±3.5)% and (82.5±3.9)%, respectively, the differences were statistically significant (P< 0 . 05 ). In the MRD positive group, differences among the 5 -year EFS rate of MRD 0 . 01 %~ 0 . 099 %, 0 . 1 %~ 0 . 99 %, and ≥1 % groups were ( 93 . 5 ±3 . 8 )%、( 80 . 9 ± 7 . 1 )% and ( 64 . 1 ± 10 . 3 )% respectively, which showed statistical significance (P<0.001). Multivariate analysis showed that MRD≥1% on day 19 (HR= 7 . 04 , 95 %CI: 2 . 84 - 17 . 46 ) and MRD≥ 0 . 01 % on day 46 (HR=1.67, 95%CI: 1 . 17 - 2 . 37 ) were independent risk factors for the prognosis of EFS. Conclusion The overall efficacy of acute lymphoblastic leukemia in children was satisfied, with high induction remission rate, and the recurrence rate of the children with D 19 MRD< 0 . 01 % was low. MRD≥ 1 % on Day 19 and MRD≥ 0 . 01 % on Day 46 are poor factors affecting the prognosis of childhood ALL.

Guidelines for parenteral nutrition in children: vitamins

Journal of Clinical Pediatrics. 2021, 39(8): 605. doi:10.3969/j.issn.1000-3606.2021.08.011

Abstract ( 337 )

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Strategy of management in pediatric patients with intestinal failure

WANG Jinling

Journal of Clinical Pediatrics. 2021, 39(8): 621. doi:10.3969/j.issn.1000-3606.2021.08.012

Abstract ( 346 )

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Intestinal failure (IF) is the critical reduction of the gut mass or its function below the minimum needed to absorb nutrients and fluids required for adequate growth in children, which could result in life-threatening fluid and electrolyte imbalances and malnutrition. Relevant advances in nutrition support and complications management have greatly improved the life quality of IF patients. This review focuses on the strategy of management in pediatric patients with IF with the hope of a bright future for them.

Prognostic factors of childhood anaplastic large cell lymphoma: an update.

SUN Jingjing, GUO Xia

Journal of Clinical Pediatrics. 2021, 39(8): 625. doi:10.3969/j.issn.1000-3606.2021.08.013

Abstract ( 354 )

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Anaplastic large cell lymphoma (ALCL), a pathologic entity of peripheral T-cell lymphomas, is one of the common non-Hodgkin's lymphomas in children. In the majority of childhood ALCL, they are characterized immunophenotypically by positive CD30 staining, and cytogenetically by ALK gene rearrangements with resultant oncogenic ALK fusion proteins. Nevertheless, ALCL is highly heterogeneous in terms of clinical manifestations, cytogenetic and molecular aberrations, therapeutic responses, and clinical outcomes. Specific ALCL histologies might be associated with characteristic immunophenotypic features, mutation profiling and gene expression signature, involving distinct signal transduction pathways. Integration of clinical relevant, tumor-associated and therapy-related risk factors help to improve ALCL risk stratification, to direct risk-based individualized therapy and to further improve prognosis of childhood ALCL. In the present paper, recent advances in this particular research field are reviewed.

Progress in the treatment of primary focal segmental glomerulosclerosis in children

PENG Yingchao

Journal of Clinical Pediatrics. 2021, 39(8): 631. doi:10.3969/j.issn.1000-3606.2021.08.014

Abstract ( 368 )

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Focal segmental glomerular sclerosis (FSGS) is a common glomerular disease in children. Its clinical manifestations are mostly nephrotic syndrome. Some children do not respond well to glucocorticoids treatment, the first line treatment, and eventually progress to end-stage renal disease. Therefore, a variety of new drugs for the treatment of FSGS have been gradually developed and achieved certain efficacy. This paper reviews the treatment progress of primary FSGS in children in order to provide the basis and ideas for treatment and scientific research

Role of intestinal microecology in the occurrence and prevention of food allergies

YU Yi, SU Wen, ZHANG Qingqing, et al

Journal of Clinical Pediatrics. 2021, 39(8): 636. doi:10.3969/j.issn.1000-3606.2021.08.015

Abstract ( 341 )

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Food allergy in children is a major early manifestation of the atopic march. Environmental and dietary factors in early life can be involved in the development of food allergy and its related diseases by affecting the intestinal microecology, altering intestinal barrier function and intestinal immunophenotype. Microecological therapy is expected to prevent and treat food allergy and other allergic diseases to some extent. More studies are still needed to verify the efficacy and safety of certain specific prebiotics and/or probiotic in the prevention and treatment of food allergy.

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