Journal of Clinical Pediatrics

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Journal of Clinical Pediatrics. 2021, 39(11): 800. doi:10.3969/j.issn.1000-3606.2021.11.000

Abstract ( 302 )

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Clinical characteristics of 39 patients with X-linked adrenoleukodystrophy

WEI Ziqian, LIN Xiaobin, LI Shumei, et al

Journal of Clinical Pediatrics. 2021, 39(11): 801. doi:10.3969/j.issn.1000-3606.2021.11.001

Abstract ( 588 )

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Objective To analyze and summarize clinical characteristics of X-ALD (X-linked adrenoleukodystrophy) in 39 children. Methods We retrospectively analyze 39 childhood cases diagnosed as X-ALD. Results All 39 cases were male. Of them 27 cases were diagnosed for CCALD (Childhood Cerebral ALD) with intellectual deterioration, gait disturbance and visual disturbance as initial symptoms, 12 were diagnosed for Addison type with the only symptom of pigmentation, in which 2 cases were diagnosed by gene analysis without apparent symptoms or physical signs. Level of C 26 :0 elevated in all 39 cases. Three novel mutations in ABCD 1 gene, c. 578 C>G (p.Prp 193 Arg) , c. 1615 A>C (p.Met 539 Leu) and c. 2 _ 5 dupTGCC (p.Pro 2 =fs*) were found which had not been reported. Patients with base substitution mutations had higher Loes scores, and there was a significant difference in Loes scores between the base substitution group and the deletion/ duplication group. The prognosis of patients with CCALD type was worse than that of Addison type. Conclusion The initial symptoms of X-ALD in children were not typical, and there were three novel mutations needed to be further verified. The type of base substitution mutations could predict the progression, and early diagnosis is the key to improve the prognosis of X-ALD.

Analysis of clinical and pedigree genetics in eight cases with congenital disorders of glycosylation

ZHANG Sisi, JIANG Wei, WANG Xianhu, et al

Journal of Clinical Pediatrics. 2021, 39(11): 805. doi:10.3969/j.issn.1000-3606.2021.11.002

Abstract ( 685 )

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Objective To review and summarize the clinical and genetic characteristics of congenital disorders of glycosylation (CDG), and to help its early diagnosis and treatment. Methods To analyze retrospectively clinical characteristics, genotypes, family information, imaging and electrophysiological examinations, laboratory indicators and other related data of eight children with CDG diagnosed in our department in recent years. Results There were four subtypes in eight children with CDG, including five cases of PMM 2 -CDG (two males and three females), one case of ALG 6 -CDG (male), one case of SSR 4 -CDG (male), and one case of SLC 35 A 2 -CDG (male). The average age of onset was 5 . 6 ± 1 . 8 months, the average age of consultation is 18 . 5 ± 4 . 4 months, and the average duration of diagnosis was 10 . 5 ± 5 . 5 months. The nervous system were the most susceptible to be involved in CDG children, presented with moderate to severe developmental delay as the main or initial symptom. Dystonia was presented in all children, and characteristic upper pelvic and (or) buttocks fat pad and nipple depression were common phenotype. There were no characteristic abnormalities in brain imaging. PMM 2 -CDG was the most common CDG subtype, and the cases of ALG 6 -CDG and SSR 4 -CDG were reported for the first time in China. Missense mutation was the main type of CDG mutation. There were 6 sites in the article which have not been reported in the HGMD database. Conclusion CDG is a type of disease involving multiple genes and multiple site mutations. Therefore, the clinical phenotype and genotype are diverse, and early identification and diagnosis are difficult.

Clinical and genetic analysis of a child with phosphoglycerate kinase 1 deficiency by PGK1 gene mutation

SUN Mingxia, WANG Yanping, HUA Ying, et al

Journal of Clinical Pediatrics. 2021, 39(11): 809. doi:10.3969/j.issn.1000-3606.2021.11.003

Abstract ( 546 )

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Objective To explore the clinical features and diagnosis of the type Ⅸ glycogen accumulation disease (phosphoglyceric acid kinase 1 deficiency) resulted from PGK 1 mutation. Methods Clinical traits, laboratory test results, and gene mutation screening by next-generation sequencing of a pediatric case with phosphoglyceric acid kinase 1 deficiency admitted to our hospital were retrospectively analyzed. Results A 3 years and 11 months old boy firstly came to our hospital for a sudden twitching onset, followed by rapid progression. He was attacked by recurrent twitching along with hemolytic anemia. During the third hospitalization, the boy developed the symptom of severe rhabdomyolysis, accompanied by obvious retardation of intelligence and motor developments. Genetic screening found a novel missense mutation (c.150 C>G, p.Cys 50 Trp) in PGK 1 which was inherited from his mother. According to ACMG guideline, the mutation can be classified as “likely pathogenic”. The boy was diagnosed with PGK 1 deficiency based on the clinical traits and genetic test results. Conclusion The phosphoglycerate kinase deficiency was a kind of rare X-linked recessive genetic disease caused by PGK 1 mutation, which can be confirmed by clinical features combing the result of PGK 1 gene mutation. To our knowledge, this mutation is first reported and meaningful for expanding the genetic mutation spectrum of PGK 1.

GM1 ganglioside storage syndrome type II caused by GLB1 gene mutation: a case report and literature review

LI Tianxin, LU Xiangpeng, PENG Yanyan, et al

Journal of Clinical Pediatrics. 2021, 39(11): 813. doi:10.3969/j.issn.1000-3606.2021.11.004

Abstract ( 570 )

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Objective To analyze the clinical and genetic characteristics of GM 1 ganglioside storage syndrome type Ⅱ in Chinese children. Methods The clinical data and gene loci of a child with GM 1 ganglioside storage syndrome type Ⅱ were retrospectively analyzed, and related literature was reviewed. Results The patient, male, was 1 year and 2 months old. He went to hospital for motor developmental regression for 3 months. The lateral X-ray of spine showed beaklike changes. A compound heterozygous mutations of c. 202 c > T and c. 832 g > A were found in GLB1 gene, which were predicted to be pathogenic by in-silico analysis. The child was diagnosed as GM 1 ganglioside storage syndrome type Ⅱ. Conclusion The variants and clinical phenotypes of GLB1 gene were found, which expanded the GLB1 gene mutation spectrum.

Mitochondrial diseases associated with mutations in GTPBP3: a case report and literature review

YANG Qian, FU Yueqiang

Journal of Clinical Pediatrics. 2021, 39(11): 818. doi:10.3969/j.issn.1000-3606.2021.11.005

Abstract ( 393 )

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Objective To analyze the clinical and genetic characteristics of GTPBP3 gene mutation associated with mitochondrial translation defect. Methods The clinical characteristics of a female preschool child related to mitochondrial translation defect caused GTPBP3 gene mutation were concluded. And related literature was reviewed. Results The child was hospitalized for pale face, dyspnea 3 hours and convulsion once, presented with severe lactic acidosis (arterial blood gas-lactic acid was 29 mmol/L), respiratory failure, myocardial damage and stroke-like syndrome. Brain MRI showed abnormal symmetry signal of bilateral cortical spinal tract. After ventilator assisted respiration, B group of vitamins, coenzyme Q10 , L-carnitine to improve metabolism and hemodialysis, the blood lactic acid dropped markedly. Her condition was gradually improved, eventually she was discharged from hospital. This disease was confirmed by molecular genetic test. Mutation of c.785 A>C (p.Q 262 P) and c. 1169 delG (p.G 390 Efs* 16 ) were detected in GTPBP 3 gene in this child, which were inherited from her mother and father respectively. Conclusion The hereditary disease should be highly suspected in patients with these symptoms. Gene analysis can help to clarify diagnosis. Improving mitochondrial metabolism and hemodialysis, if necessary, is an effective therapeutic tool to improve metabolic crisis in these children.

Ullrich congenital muscular dystrophy caused by COL6A1 intron variation: a case report and literature review

HU Jun, LIN Mingxing, QIU Mingqi, et al

Journal of Clinical Pediatrics. 2021, 39(11): 822. doi:10.3969/j.issn.1000-3606.2021.11.006

Abstract ( 847 )

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Objective To explore the clinical manifestation and genetic mutation of Ullrich congenital muscular dystrophy (UCMD) caused by COL 6 A1 intron variation (+ 189 C>T). Methods The clinical data of a child with UCMD were retrospectively analyzed, and the related literature was reviewed. Results A 4 -year-old girl walked independently at the age of 16 months. At the age of 24 months, the child had difficulty in getting up from squatting, needed assistance to go up and down stairs, and could not run and jump. Her proximal limbs were weak, especially in the lower limbs. The child had hyperextension of distal joints of the limbs and contracture of both knees. Creatine kinase was slightly increased. The electromyography showed myogenic damage (proximal muscles of upper and lower extremities) with mild neurogenic damage (distal muscles of upper and lower extremities). Genetic testing revealed a de novo variation in COL6A1 (NM_ 001848 . 2 ): c. 930 + 189 C>T. After the diagnosis of UCMD, the children were treated with muscle massage and rehabilitation training, and the progress of the disease was delayed. The literature search retrieved 35 children with UCMD, most of whom had relatively few symptoms in the neonatal period, and the typical clinical manifestations of UCMD gradually appeared with age. Conclusions The de novo variation of COL6A1 + 189 C > T causes delayed onset of UCMD symptoms, followed by accelerated progression.

ZTTK syndrome caused by a novel mutation of SON gene: a case report

YUN Guojun, WANG Jinggang, LI Qingyun, et al

Journal of Clinical Pediatrics. 2021, 39(11): 825. doi:10.3969/j.issn.1000-3606.2021.11.007

Abstract ( 1040 )

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To analyze the clinical phenotype and genetic characteristics of Zhu-Tokita-TakenouchiKim (ZTTK) syndrome caused by SON gene mutation. Methods The clinical data of ZTTK syndrome from one proband were collected, and the suspected ZTTK syndrome was diagnosed by the next generation sequencing technology and Sanger sequencing. Results A 3 -year-old boy presented with psychomotor developmental delay, intellectual disability, ECG abnormality and hypoplasia of the corpus calloum. Gene tests found a de novo heterozygous mutation of c. 5753 - 5756 del, (p.Val 1918 Glufs* 87 ) in the SON gene. According to the ACMG guidelines, the mutation was classified as pathogenic. Conclusions The patient’s clinical phenotype was consistent with ZTTK syndrome. The heterozygous mutation of c. 5753 - 5756 del, p.Val1918 Glufs* 87 in SON was pathogenic, which enriches the SON gene variant spectrum in Chinese children.

Activated PI3K Delta syndrome caused by PIK3CD gene mutation in a child: a case report and literature review

TAN Zhanghua, SONG Faying, ZHENG Hongyan, et al

Journal of Clinical Pediatrics. 2021, 39(11): 829. doi:10.3969/j.issn.1000-3606.2021.11.008

Abstract ( 413 )

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Objective To explore the clinical features and treatment of activated PI 3 K 未 syndrome. Methods Clinical manifestations, laboratory examination and genetic testing and treatment in a child with activated PI3K 未 syndrome 1 (APDS) were retrospectively analyzed. Results The main clinical manifestations of this APDS 1 patient were recurrent respiratory tract, splenomegaly, lymph node enlargement, enteropathy, hyper IgM syndrome, decreased proportion of T lymphocytes and CD 4 + T lymphocytes. This patient was diagnosed as activated PI 3 K 未 syndrome 1 by whole exon sequencing, and was treated with antibiotics and gamma globulin, then the clinical symptoms were significantly improved. Conclusions For patients presenting with recurrent respiratory tract infections, lymphoproliferative diseases, bowel diseases, and hyper IgM syndrome, the possibility of activated PI 3 K 未 syndrome should be considered, and genetic testing should be performed when necessary to confirm the diagnosis. Combination of antibiotics and gamma globulin replacement therapy could achieve a good clinical outcome.

A case report of Snijders Blok-Campeau syndrome caused by a novel mutation of CHD3 gene and literature review

LIU Lai, ZHU Dengna, TIAN Yuan, et al

Journal of Clinical Pediatrics. 2021, 39(11): 832. doi:10.3969/j.issn.1000-3606.2021.11.009

Abstract ( 1067 )

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Objective To improve the understanding of clinical phenotype and genotype of Snijders Blok-Campeau syndrome. Methods Clinical data, whole exome sequencing and CNV-Seq results of a case of Snijders Blok-Campeau syndrome were retrospectively analyzed; and relevant literatures in CNKI, Wanfang data knowledge service platforms and PubMed were summarized and analyzed. Results A 13 -month old girl presented with comprehensive developmental delays, small palpebral fissure, ocular hypertelorism, wide bridge of the nose, sparse eyebrows and low ear-setExome, sequencing and CNV-Seq test found a de novo missense variant of c.3709T>C ( p.F1237L ) in CHD3 gene, which has not been reported in the Human Gene Mutation Database and ClinVar. A total of 61 patients with Snijders Blok-Campeau syndrome were found in literatures and 47 patients were found with de novo mutations, and most of which were missense mutations. The common clinical phenotypes of the patients are developmental retardation, mental retardation, speech retardation, hypotonia and unique facial features. Conclusion A novel variant of c. 3709 T>C in CHD3 gene that causes Snijders Blok-Campeau syndrome was identified. A variety of CHD3 gene variants can lead to Snijders Blok-Campeau syndrome, the patient's unique facial features and genetic testing can contribute to the diagnosis.

A case report and literature review on 3-methylcrotonyl-CoA carboxylase deficiency caused by uniparental disomy

JIA Qianfang, ZHOU Fujun, CUI Qingyang

Journal of Clinical Pediatrics. 2021, 39(11): 836. doi:10.3969/j.issn.1000-3606.2021.11.010

Abstract ( 406 )

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Objective To improve the understanding of the genotype of 3 - methylcrotonyl-CoA carboxylase deficiency (MCCD) caused by uniparental disomy. Methods Clinical data of a patient diagnosed with MCCD was retrospectively analyzed and relevant literature was reviewed. Results A 9 -month-old boy presented with external rotation of his right leg for one week. Physical examination showed dysplasia, right lower extremity external rotation and slightly low muscle strength of lower extremity. His score after psychological and behavioral development assessment of children aged 0 - 6 was 66 points. Blood tandem mass spectrometry and urine gas chromatography-mass spectrometry indicated MCCD. Whole genome sequencing found a c. 1853 _ 1856 delTTTA homozygous variation of MCCC1 gene not reported in the literture, inherited from his mother. Chromosomal microarray confirmed that the proband was maternal uniparental disomy on chromosome 3p24- 3 q 29 , which contained MCCC 1 gene. Conclusion It is firstly found that MCCD was of caused by uniparental disomy. and a novel homozygous variation c. 1853 _ 1856 delTTTA in MCCC 1 gene was found.

Multicentric carpotarsal osteolysis caused by mutation of MAFB gene: a case report and literature review

XU Xisheng, ZOU Lixia, LU Meiping

Journal of Clinical Pediatrics. 2021, 39(11): 839. doi:10.3969/j.issn.1000-3606.2021.11.011

Abstract ( 788 )

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Objective To explore the clinical and genetic characteristics of multicentric carpotarsal osteolysis (MCTO). Methods The clinical data of a MCTO patient was retrospectively analyzed and related literature was reviewed. Results The patient is a 12 years and 3 months old girl, initially suffered from swelling and pain in the left ankle, wrist, and metacarpophalangeal joints at age of 3 years and 3 months. She was diagnosed with juvenile idiopathic arthritis (JIA) and received long-term antirheumatic treatment but with few effects. Subsequently, she presented with shortened left arm. She developed persistent proteinuria 2 years ago. Imaging examination indicated bone destruction of the left carpal and left wrist. Whole exome sequencing revealed a heterozygous mutation of c. 206 c > T (p.S 69 L) in MAFB gene and the diagnosis of MCTO was made. Electronic systemic searches were conducted in PubMed, Wanfang, and CNKI databases, and 15 articles were selected. We reviewed 60 patients including this case. Carpus ( 100 %), phalanges ( 94 . 1 %), elbow joints ( 64 . 7 %), knee joints ( 44 . 1 %), hip joints ( 14 . 7 %), and shoulder joints ( 8 . 8 %) were commonly involved. Forty-one patients had kidney involvement of different degrees, and 13 patients received kidney transplantation. At present, a total of 18 missense mutations have been reported. Conclusion Patients with MCTO are characterized by progressive osteolytic diseases of the carpus and tarsal bones, which can be confused with JIA. Patients may present with proteinuria in the early stage followed by progressive renal failure. The genetic test is essential for diagnosis.

Analysis of clinical characteristics and gene variation of type 2 Bruck syndrome caused by PLOD2 gene mutation

HAO Huimin, SHEN Linghua，ZHANG Yingxian, et al

Journal of Clinical Pediatrics. 2021, 39(11): 843. doi:10.3969/j.issn.1000-3606.2021.11.012

Abstract ( 319 )

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Objective To investigate the clinical characteristics and mutation spectrum of children with type 2 Bruck syndrome caused by PLOD2 gene mutations. Methods The clinical data of a patient with Bruck syndrome type 2 were retrospective analyzed, and the relevant literature was reviewed. Results A male patient, 1 year and 8 months old, visited the clinic after birth due to congenital joint contracture and repeated fractures. Next-generation sequencing revealed a complex heterozygous variant of c. 1829 G>C and c. 1559 dupC in the PLOD 2 gene, which were derived from his unaffected mother and father, respectively. C. 1829 G>C was a likely pathogenic variant, which had not been reported in HGMD and ClinVar database. Conclusion The novel variant c. 1829 G>C expands the mutation spectrum of PLOD 2 gene. Multiple fractures and congenital joint contracture are the main clinical features of type 2 Bruck syndrome caused by PLOD 2 gene mutation, and early diagnosis and bisphosphonate therapy may improve prognosis of this condition.

Clinical and genetic analysis of a patient with IKSHD caused by ELOVL1 gene mutation

YANG Lei，ZHANG Guangyu，CHEN Gongxun, et al

Journal of Clinical Pediatrics. 2021, 39(11): 847. doi:10.3969/j.issn.1000-3606.2021.11.013

Abstract ( 311 )

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Objective To investigate the clinical characteristics and pathogenic gene of a patient diagnosed with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic facies (IKSHD). Method Clinical data of a patient with IKSHD was retrospectively analyzed, and related literatures were reviewed. Results The 1 year and 7 months old boy displayed ichthyoid keratosis of the skin of the elbow, knee, ankle and the dorsal side of the leg, spastic paraplegia, nystagmus with strabismus, facial deformity and hearing impairment. Cranial MRI showed hypomyelination. The gene sequencing identified a de novo heterozygous mutation of c.464 G>C in ELOVL 1 gene which has not been reported. According to ACMG rating, this variant was classified with likely pathogenic. Combined with the clinical manifestations and genetic results, diagnosis of IKSHD was arrived. Conclusion Gene sequencing is helpful for the diagnosis of IKSHD and the discovery of novel missense mutation (c.464G>C).

Study on the effect of prone time on motor development in infants

WANG Jiayue, JIANG Yanrui, JIN Zhijuan, et al

Journal of Clinical Pediatrics. 2021, 39(11): 851. doi:10.3969/j.issn.1000-3606.2021.11.014

Abstract ( 265 )

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Objective To investigate the effect of prone time on motor development in infants. Methods The infants aged 3 to 11 months old were evaluated using the Peabody motor scales and their prone time per day was collected. Results 152 infants were enrolled. There were 43 cases in control group (prone time <0.05). Conclusions Prone time in infants was significantly correlated with gross motor development. Parents should be encouraged to interact with their babies in the prone position during waking hours.

Significance of hepatocyte growth factor in early diagnosis and dynamic monitoring of severe Mycoplasma pneumoniae pneumonia in children

YUAN Xiaoxu, JIA Chunmei, JIANG Cairong

Journal of Clinical Pediatrics. 2021, 39(11): 855. doi:10.3969/j.issn.1000-3606.2021.11.015

Abstract ( 361 )

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Objective To analyze the clinical value of serum hepatocyte growth factor (HGF) level in judging the severity of Mycoplasma pneumoniae pneumonia (MPP) in children and the significance of early recognition of severe MPP (SMPP). Method Seventy-five ( 75 ) children with MPP who were hospitalized from August 2019 to December 2020 were selected and divided into SMPP group and non-SMPP group. At the same time, 30 healthy children who underwent physical examination during the same period served as control group. The levels of serum HGF, highsensitivity C-reactive protein (hs-CRP), lactate dehydrogenase (LDH) and D-dimer (D-D) among the three groups were compared. Results Twenty-six ( 26 ) cases were included in the SMPP group, including 14 males and 12 females, with a midian age of 5 . 17 ( 3 . 23 - 7 . 25 ) years. There were 49 cases in the non-SMPP group, including 22 males and 27 females, with an average age of ( 6 . 09 ± 1 . 96 ) years. There were 30 cases in the control group, including 13 males and 17 females, with an average age of ( 5 . 09 ± 1 . 64 ) years. The differences in HGF, hs-CRP, LDH, and D-D levels among SMPP group, non-SMPP group and control group were statistically significant (P< 0 . 01 ). After pairwise comparison, it was found that the levels of each index in the SMPP group were significantly higher than those in the non-SMPP group, and the non-SMPP group was significantly higher than the control group (both P< 0 . 05 ). The binary logistic regression analysis showed that LDH, D-D and HGF were independent risk factors for SMPP (P< 0 . 05 ). Combining LDH, D-D and HGF into ROC curve predicted an occurrence of SMPP at 0 . 941 ( 95 % CI: 0 . 886 - 0 . 997 ), and the sensitivity and specificity at 80 . 77 % and 97 . 96 %, respectively. The level of serum HGF in children in the SMPP group and the non-SMPP group during the recovery period was lower than that in the acute period, and the difference was statistically significant (P<0.05). Conclusions Serum HGF level has certain value in judging the severity of MPP children. Serum HGF, LDH, and D-D are independent risk factors for SMPP. Joint detection helps to identify SMPP early.

Clinical analysis of 21 cases of childhood asparaginase-associated pancreatitis

ZHANG Zhixiao, LU Aidong, ZUO Yingxi, et al

Journal of Clinical Pediatrics. 2021, 39(11): 860. doi:10.3969/j.issn.1000-3606.2021.11.016

Abstract ( 257 )

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Objective To analyze clinical characteristics, diagnosis, treatment and prognosis of asparaginase-associated pancreatitis (AAP) in children. Methods From January 2012 to December 2019 , 21 children with acute pancreatitis who were newly diagnosed with acute lymphoblastic leukemia (ALL) and received asparaginase-containing chemotherapy were included. Their clinical characteristics, laboratory examinations, treatment and prognosis were retrospectively analyzed. Results Among the 711 children newly diagnosed with ALL and treated with L-asparaginase (L-asp) during the study period, the incidence of AAP was 3 . 0 % (n= 21 ). Among the 21 cases, there were 10 boys and 11 girls, with a median age of 8 years (range: 3 ~ 18 years). Seven cases occurred during induction chemotherapy, after a median L-asp doses of 7 (range:1 ~ 10 doses), and 14 cases occurred in consolidation chemotherapy, with a median interval of 16 . 5 days (range:2 ~ 22 days) after PEG-asp administration, and the median number of PEG-asp doses was 4 . 5 (range:1 ~ 9 doses). Fourteen cases were classified as mild and 7 were severe. Abdominal pain and vomiting were the most common symptoms. The median values of serum amylase and lipase at AAP diagnosis were 471 U/L (range: 25 ~ 1632 U/L, upper normal limit [UNL]: 125 U/L) and 287 . 1 U/L (range: 4 . 6 ~ 2213 . 7 U/L, UNL: 31 U/L) respectively. Thirteen children underwent abdominal ultrasound examination, 6 ( 46 . 2 %) were positive; 20 cases underwent abdominal CT scan, 17 ( 85 . 0 %) were positive. Pancreatic pseudocyst occurred in 4 cases. All children received conservative management including fasting, administration of somatostatin or acid suppression drugs and nutrition support. Three cases received nasojejunal feeding, and 5 cases required surgery. Four cases with mild AAP were re-exposed to L-asp, of which one case had recurrent AAP. Except for one child who gave up treatment, there were no pancreatitis-related deaths. One case developed chronic pancreatitis and the other 19 cases were cured. Conclusion AAP is a serious complication of asparaginase therapy. Early identification is of utmost importance. The prognosis is good with multidisciplinary comprehensive treatment.

Spinal epidural lipomatosis caused by glucocorticoids in the treatment of children anti-N-methyl-Daspartate receptor encephalitis: a case report and literature review

XIAO Huimei, LI Biyun, PEI Zheng, et al

Journal of Clinical Pediatrics. 2021, 39(11): 865. doi:10.3969/j.issn.1000-3606.2021.11.017

Abstract ( 254 )

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Objective To investigate clinical characteristics and treatment of spinal epidural lipomatosis (SEL) caused by glucocorticoids in the treatment of anti-N-methyl-D- aspartate receptor (NMDAR) encephalitis. Methods The clinical data of one child diagnosed as anti-NMDAR encephalitis in May 2018 were retrospectively analyzed. A literature search was conducted at Wanfang database and PubMed, and the relevant literature were reviewed. Results The 8 -year-old girl was hospitalized for "involuntary movement of the right limb, seizure and abnormal mental behavior". The anti-glutamate receptor antibody IgG of CSF was positive with a titer of 1 :32 . Then the diagnose of anti-NMDAR encephalitis was made. She was treated with gamma globulin, glucocorticoid, prednisone, plasma exchange and cyclophosphamide immunotherapy. During the follow-up, abnormal increase of cerebrospinal fluid protein was found. Spinal cord MRI showed spinal epidural lipomatosis. We then stop prednisone by dose tapering and help her lose weight through diet control and exercise. Then the follow-up spinal MRI showed significant improvement. At present, there are 14 English papers published about SEL caused by steroid therapy in the treatment of other childhood diseases, but no report about SEL caused by glucocorticoids in the treatment of children with NMDAR encephalitis. Children with SEL may present back pain, numbness, weakness, abnormal gait, incontinence and acute paralysis and in some cases may present no symptom. Conclusion The use of steroids for treating anti-NMDAR encephalitis may caused SEL, which could be early diagnosed before the clinical symptoms occur and treated by stopping steroids and controlling body weight.

The overview of the molecular mechanism regulating the closure of patent ductus arteriosus

CHEN Yinghui, ZHANG Qi

Journal of Clinical Pediatrics. 2021, 39(11): 869. doi:10.3969/j.issn.1000-3606.2021.11.018

Abstract ( 184 )

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Patent ductus arteriosus (PDA) is a congenital heart disease in which the ductus arteriosus of newborns remains open continuously after birth. The incidence of PDA in newborns, especially premature infants, is very high. If it is not treated in time, it will often cause serious complications and increase the mortality of premature infants. At present, non-selective COX enzyme inhibitors were the main drugs used to treat PDA to close the ductus arteriosus by blocking the production of prostaglandin, which have certain limitations and side effects. Studying the molecular mechanisms that affect the closure of ductus arteriosus and understanding the pathogenesis of PDA will help develop new targeted drugs that promote ductus arteriosus closure in PDA patients to reduce the failure rate and side effects of drug therapy. This article summarizes the studies on molecular mechanisms affecting the closure of ductus arteriosus, expounds the possible pathogenesis of PDA, and provides new insights for exploring new treatment methods

Research progress on sodium channel-associated epileptic encephalopathy

YUAN Qifeng, YU Shiqian, YAO Baozhen

Journal of Clinical Pediatrics. 2021, 39(11): 875. doi:10.3969/j.issn.1000-3606.2021.11.019

Abstract ( 284 )

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Epileptic encephalopathy (EE) is a group of diseases, mainly characterized by chronic damage of neurological function, which is partly or wholly caused by seizures. Early diagnosis for some EE children is difficult, and the efficacy of traditional antiepileptic drugs is often unsatisfying. With the development of the new generation of genetic diagnosis technology, especially the application of next-generation sequencing technology, it was found that voltage-gated sodium channel genes were closely related to EE. In this review, the genotype and clinical phenotypic relationship of SCN1A, SCN2A, SCN3A, SCN8A, SCN 1 B-related EE were discussed, and the different treatment methods were summarized, aiming to explore the pathogenesis of EE and provide help for the genetic diagnosis and treatment of this disease.

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