Table of Content

15 May 2019 Volume 37 Issue 5

  

Allogenetic hematopoietic stem cell transplantation for children with acute myeloid leukemia

XIAO Yuhua, LI Chunfu, HE Yuelin, et al

Journal of Clinical Pediatrics. 2019, 37(5):  321.  doi:10.3969/j.issn.1000-3606.2019.05.001

Abstract ( 332 )   PDF (1180KB) ( 184 )  

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　Objective　To analyze clinical efficacy of allo-genetic stem cell transplantation (allo-HSCT) for children with acute myeloid leukemia (AML) and related factors. Methods　Forty-nine children with intermediate risk group, high risk group, relapsed AML group who underwent allo-HSCT in Nanfang Hospital from January of 2002 to November of 2017 were retrospectively analyzed in risk classification, HLA type, status before transplantation, transplantation type, source of stem cell and acute or chronic graft versus host disease (GVHD), respectively. Results　A total of 49 patients were analyzed, with a median age of 9 years, including 35 boys and 14 girls. The 3 years overall survival (OS) and leukemia free survival (LFS) was 59.2%±7.3% and 50.9%±7.4%, respectively. The 3-year LFS in first remission subgroup, non-related donor subgroup, peripheral blood stem cell transplantation subgroup and intermediate risk group is 69.8%, 69.2%, 73.7% and 65.8%, respectively. Causes of death consists of relapse (13/49,26.5%), severe infection (5/49,10.2%), and multiple organ failure(1/49, 2.0%). Cox regression analysis showed that acute GVHD (RR=3.16, 95%CI: 1.233~8.091, P=0.017) and status before transplantation (partial remission and non remission) (RR=4.76, 95%CI: 1.515~14.939, P=0.008; RR=5.28, 95%CI: 1.683~16.580, P=0.004) can significantly affect the OS and LFS. Conclusion　Status before transplantation and acute GVHD can affect the efficacy of allo-HSCT significantly. The most common causes of death are relapse and infection.

Clinical observation of posterior reversible encephalopathy syndrome in children with acute lymphoblastic leukemia

LIN Shupeng, SONG Hua, SHEN Heping, et al

Journal of Clinical Pediatrics. 2019, 37(5):  326.  doi:10.3969/j.issn.1000-3606.2019.05.002

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Objective　Posterior reversible encephalopathy syndrome (PRES) is a neurological complication associated with chemical agents. This study is to investigate clinical characteristics and radiological features of this disease. Methods Demographic and medical data of all acute lymphoblastic leukemia patients who had radiological and clinical manifestations consistented with PRES between September 2015 and September 2018 were retrospectively analyzed. Results　Among 582 patients with acute lymphoblastic leukemia, a total of 9 patients were included and 7 patients received pegaspargase therapy before PRES. Five patients had acute hypertension before PRES. Seizure was the most common clinical manifestation, followed by myasthenia and paresthesia. In brain magnetic resonance imaging, parietal and occipital lobes were found to be involved in six (60%) patients and other involvements including temporal lobes, frontal lobes, cerebellum, brainstem, thalamus and basal ganglia. Hyponatremia was observed in six (60%) patients, while six (60%) patients suffered from hypofibrinogenemia. Conclusions Pegaspargase, intensive chemotherapy, intrathecal therapy and acute hypertension were risk factors for PRES development. hyponatremia and hypofibrinogenemia may indicate the development of PRES.

Therapy-related acute leukemia after therapy for hemophagocytic lymphohistiocytosis: a report of 2 cases and literature review

PAN Lili, LI Jian, LE Shaohua, et al

Journal of Clinical Pediatrics. 2019, 37(5):  331.  doi:10.3969/j.issn.1000-3606.2019.05.003

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Objective　To investigate the clinical characteristics and prognosis of acute leukemia after treatment for hemophagocytic lymphohistiocytosis (HLH). Methods Clinical data of two cases with acquired EBV-triggered HLH with progression to acute leukemia following chemotherapy was analyzed, and 13 cases of secondary acute leukemia (sAL) following the treatment of HLH in the literature were reviewed. Results　Two male cases with acquired EBV-triggered HLH (EBV-HLH) were treated with HLH-2004 regimen. The cumulative dose of etoposide was 1500 mg/m2 and 3900 mg/m2, respectively. One child developed acute promyelocytic leukemia (APL) 18 months after the first chemotherapy regimen, and achieved complete remission (CR) after induction chemotherapy with retinoic acid and daunorubicin. Then he received regular chemotherapy, and continued CR was observed after following up for 30 months. Another patient developed acute mononuclear leukemia (M5) 50 months after the first chemotherapy, who reached CR after AML chemotherapy. However, he relapsed 9 months after withdrawal and reached CR after hematopoietic stem cell transplantation. Following up for 12 months, the patient got continued CR. Thirteen cases of sAL following chemotherapy for HLH were reported. Of the 15 cases, 10 were male and 5 were female. The median age was 2 years and 6 months old (4 months to 19 years old). The cumulative dose of VP16 was 3900 mg/m2 (400-20975). The median interval between HLH and secondary leukemia was 24 months (6-72). The types of secondary leukemia included M3 in 5 cases who received chemotherapy and survived without disease, and other types of AL in 10 cases, in which 3 cases received chemotherapy (1 case died and 2 cases were unknown), 6 cases were performed hematopoietic stem cell transplantation ( 3 cases survived and 3 cases died) , and 1 case gave up treatment after suffering from AL. Conclusions　Most of the acute leukemia secondary to HLH are AML. APL has a good prognosis treated with retinoic acid-based combination chemotherapy, while other types have a poor prognosis. Hematopoietic stem cell transplantation may improve the prognosis.

Clinical analysis of 40 children with HLH diagnosed and treated by HLH-2004 regime

AN Qi, XUAN Chengmin, JIN Mingwei, et al

Journal of Clinical Pediatrics. 2019, 37(5):  336.  doi:10.3969/j.issn.1000-3606.2019.05.004

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Objective　To investigate the clinical characteristics, family history, as well as the efficiency and prognosis of children with HLH diagnosed and treated by HLH-2004 regime. Methods　A total of 40 children with HLH diagnosed in Xuzhou Children’s Hospital from January 2011 to December 2014 were enrolled. Clinical data including family history, clinical characteristics, laboratory results, treatment and prognosis were retrospectively analyzed. Results Among the 40 children with HLH, 24 were males and 16 were females. The median age was 1 year old (range from 4 months to 10.5 years old). Two cases had positive family history, 27 cases had known primary diseases, while 13 cases had no clear reasons. Main clinical manifestations included fever, hepatosplenomegaly, bleeding, pulmonary infiltration, pleural effusion, central nervous system lesions, rash and so on. Main laboratory abnormalities were cytopenia, abnormal liver function, coagulation abnormalities, hypertriglyceridemia, elevated ferritin, hemophagocytosis in bone marrow. There were 35 cases treated with HLH-2004 regimen, 26 cases survived and 14 cases died. The main causes of death were infection, disseminated intravascular coagulation and multiple organ failure. Conclusion　HLH in Chinese children is an aggressive syndrome with complicated manifestations. Treatment with HLH-2004 regime resulted in a relatively good prognosis.

Clinical study of speech and language assessment scale

MA Xirui , ZHANG Yiwen

Journal of Clinical Pediatrics. 2019, 37(5):  341.  doi:10.3969/j.issn.1000-3606.2019.05.005

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Objective　To assess if speech and language assessment scale (SLAS) can rapidly and effectively evaluate language abilities of preschool-aged children speaking mandarin as mother language. Method　Children with language delay (n=63，boys/girls=51/12，age 51±10 months) were retrospectively collected from language impairment clinics between September 2014 and November 2014, normal peers 1:1 matching with age (n=71，boys/girls=43/28, age 53±11 months) were selected from regular health check-up clinics at the similar time period. We tested the group differences of SLAS scores between language delay group and normal controls. By using DREAM-C as a standard, the agreements of SLAS’s syntax and semantics were analyzed. Results　Children with language delay group scored significantly lower in all SLAS sub-scores than children in the control group (all P<0.0001). By the standard of DREAM-C, Kappa value (Semantics)=0.5181, Kappa value (Syntax)=0.5839 in SLAS, and AUC (Semantics)=0.904 and AUC (Syntax)=0.862. It proofed that SLAS showed good agreements in semantics and syntax by the standard of DREAM-C. Conclusion　We concluded that SLAS assessed language of preschool-aged children effectively and swiftly, it is appropriate to be used as a childhood language screening test.

Predicting value of neonatal risk score for the severity of respiratory disease in late preterm and term infants within the first 24 hours after birth

WU Jie, HAN Yamei, ZHANG Juanli, et al

Journal of Clinical Pediatrics. 2019, 37(5):  345.  doi:10.3969/j.issn.1000-3606.2019.05.006

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Objective　To explore the predictive value of acute care of at-risk newborns respiratory score (ACoRN) and the score for neonatal acute physiology with perinatal extension-II (SNAPPE-II ) for the severity of respiratory diseases in the late preterm and term infants. Method　A retrospective analysis was performed on the data of the late preterm and term infants within the first 24 hours after birth in the Second Department of Neonatology in Lanzhou University Second Hospital from June 2017 to June 2018. The data of ACoRN score and SNAPPE-II score was calculated, and the infants were divided into respiratory disease group and non-respiratory disease group. The respiratory disease group was further divided into the transient tachypnea of newborn (TTN) group and the other respiratory disease groups. Univariate analysis, logistic regression and receiver operating characteristic curve (ROC) were used to analyze different groups of those infants. Results　There were 89 cases in the TTN group, 33 cases in the other respiratory disease group and 137 cases in the non-respiratory disease group. The mean gestational age was (37.02±2.16) weeks, mean birth weight was (2.72±0.61) kg. Univariate analysis showed that 1 minute Apgar score, 5 minutes Apgar score, pulmonary surfactant, antibiotic treatment, non-invasive assistant ventilation, invasive assistant ventilation, ACoRN score and SNAPPE-II score had significant differences statistically (P < 0.05). Logistic regression analysis showed that 1 minute Apgar score, length of stay, ACoRN score and SNAPPE-II score were correlated with the respiratory disease group compared with the non-respiratory disease group (P <0.05). ROC analysis showed that the efficiency of the score of ACoRN correlated with SNAPPE-II was the highest (AUC=0.991) than that of ACoRN (AUC=0.972) and that of SNAPPE-II (AUC=0.550) separately. Conclusion　ACoRN score and SNAPPE-II score was based on a rapid, simple evaluation method respectively from the aspects of breathing and acute physiological characteristics. ACoRN correlated with SNAPPE-II score was as a predictive index, benefitting to comprehensively judge for the abnormal degree of neonatal respiratory diseases and the indication of transporting to the neonatal intensive care unit.

Characteristics of intestinal flora in breast-fed neonates with severe hyperbilirubinemia

LI Yaxuan, MO Xi, SUN Jianhua, et al

Journal of Clinical Pediatrics. 2019, 37(5):  351.  doi:10.3969/j.issn.1000-3606.2019.05.007

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Objective　To investigate the characteristics of intestinal flora in breast-fed neonates with severe hyperbilirubinemia (breast milk jaundice, BMJ). Methods　Six breast-fed children with severe hyperbilirubinemia and six healthy breast-fed children from Shanghai Children's Medical Center affiliated to Shanghai Jiaotong University School of Medicine during January 2018 to June 2018 were enrolled. Stool samples were collected, and 16S rDNA sequencing was used to study the intestinal flora of 6 severe hyperbilirubinemia neonates (BMJ group) and 6 normal breastfeeding newborns (control group). Results　There was no significant difference in the diversity of intestinal flora between BMJ group and control group (P>0.05). At the genus level, the abundance of Escherichia was higher in BMJ group than that in control group (P＜0.05); LEfSe analysis showed Staphylococcaceae, Staphylococcus, Klebsiella, and Bacillales were higher in healthy control group. Conclusion　Although there is no significant difference in the diversity index of the intestinal flora between neonates with severe hyperbilirubinemia and jaundice-free breastfeeding infants, some bacteria have significant differences in the structure of the flora.

Genetic diagnosis and follow-up of two children with chromosome 1p36 deletion syndrome

LIU Huili, WANG Lili, GAO Xueren , et al

Journal of Clinical Pediatrics. 2019, 37(5):  356.  doi:10.3969/j.issn.1000-3606.2019.05.008

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Objective　To explore the clinical characteristics and growth pattern in patients with 1p36 deletion syndrome. Methods　Chromosomal microarray analysis (CMA) was used to detect genetic changes in two children with growth and developmental delay. Long-term follow-up of one subject was conducted to track the trend of height and weight change. Results Two subjects (one girl and one boy) were reported, both presenting characteristic face, obesity, short stature and intellectual disability (especially delay in language development). CMA identified 1p36.33-p36.32 deletion in both subjects. The girl harbors a 1757 kb heterozygous deletion, and the boy harbors a 2533 kb heterozygous deletion. Both were diagnosed as 1p36 deletion syndrome. Long-term follow-up on this subject from 7 years old and onwards revealed decelerated growth from 12 years old. Conclusions　1p36 deletion syndrome has varied clinical manifestations including typical facial characteristics, developmental delay, and other abnormalities. Females with this syndrome can present decelerated growth in middle adolescence, which eventually leads to short stature. CMA can facilitate the diagnosis of 1p36 deletion syndrome.

Hyperinsulinism-hyperammonemia syndrome: a case report and literature review

WEI Wei, CHEN Yao, LI Juan , et al

Journal of Clinical Pediatrics. 2019, 37(5):  360.  doi:10.3969/j.issn.1000-3606.2019.05.009

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　Objective　To investigate the pathogenesis, clinical manifestations and genetic characteristics of hyperinsulinism-hyperammonemia (HI/HA) syndrome caused by GLUD1 gene mutation. Method　Clinical data of a case with HI/HA syndrome was retrospectively analyzed, and relevant literature was reviewed. Results　The girl began to have repeated hypoglycemia since she was 1 year and nine months old. During the course of more than two years, convulsions had happened for 3 times which was recovered by elevated blood sugar and anticonvulsant therapy each time. Laboratory data showed that the level of blood insulin and ammonia was elevated, which was defined as HI/HA syndrome. High-throughput sequencing analysis revealed a de novo heterogeneous missense mutation (c.965G > A, p.Arg322His) in GLUD1 gene. Conclusion　Gene detection could confirm the diagnosis of HI/HA syndrome.

Aromatic L-amino acid decarboxylase deficiency ：a report of two cases and literature review

CHEN xianrui, XU jinping, CHEN ling

Journal of Clinical Pediatrics. 2019, 37(5):  365.  doi:10.3969/j.issn.1000-3606.2019.05.010

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Objective　To report clinical manifestations and genetic characteristics of 2 cases with aromatic L-amino acid decarboxylase deficiency (AADCD). Methods　Clinical data and genetic results of two cases with AADCD were collected and analyzed, and related literature was reviewed. Results　Both cases were female, and the main clinical manifestations were feeding difficulty, backward motor development, nystagmus and convulsion. Genetic test found patient 1 carried compound heterozygous mutation c.1234C>T in the exon 13 and c.170 A > G (p.I57T) in DDC, and patient 2 carried compound heterozygous mutation c.1234C>T in the exon 13 and c.179 T > C (p.V60A) in DDC. In addition, c.170 A > G (p.I57T) and c.179 T > c (p.V60A) were novel variants with unknown significance. Conclusion　These two AADCD children both had typical clinical manifestations. The disease was rare and complex, and early diagnosis is helpful to improve prognosis.

Kenny-Caffey syndrome caused by mutation of FAM111A gene : a case report and literature review

XU Naixin, WANG Yirou, YU Tingting, et al

Journal of Clinical Pediatrics. 2019, 37(5):  369.  doi:10.3969/j.issn.1000-3606.2019.05.011

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Objective　To analyze the clinical features, gene mutations and treatment of rare Kenny-Caffey syndrome type 2. Methods　Clinical and laboratory data and gene detection results from a child with Kenny-Caffey syndrome type 2 were retrospectively analyzed. The related literatures were reviewed. Results　The 8-month old boy presented with recurrent seizures and developmental delay. Laboratory tests suggested hypocalcemia, hypomagnesemia, hyperphosphatemia, low parathyroid hormone and increased liver enzymes. X-ray examination showed long bones with reduced medullary space and cortical thickening. Whole exome sequencing identified a de novo heterozygous mutation of c.1706G>A, p.Arg569His in FAM111A gene. A total of 17 cases of Kenny-Caffey syndrome caused by FAM111A gene mutation were reported in the literature searched, the clinical features are consistent with our patient. Conclusions　Kenny-Caffey syndrome type 2 caused by FAM111A gene mutation is very rare, and genetic testing is helpful for the molecular diagnosis.

A case of Nicolaides-Baraitser syndrome and literature review

YANG Liming, NING Zeshu, TANG Jingwen, et al

Journal of Clinical Pediatrics. 2019, 37(5):  373.  doi:10.3969/j.issn.1000-3606.2019.05.012

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Objective　To investigate the clinical features and gene mutation analysis of Nicolaides-Baraitser syndrome. Methods　The clinical data of a child with Nicolaides-Baraitser syndrome diagnosed in the neurology department of Hunan Children's Hospital were retrospectively analyzed. Using "Nicolaides-Baraitser Syndrome" and "SMARCA2" as keywords, the literatures in database of Wanfang Data Knowledge Service Platform, China National Knowledge Infrastructure (CNKI), National Center for Biotechnology Information (NCBI), and Biomedical Literature Database (PubMed) up to June 2018 were searched, and the clinical manifestations and genetic mutations of children with Nicolaides-Baraitser syndrome were summarized. Results The patient was a boy, admitted to our hospital in April 2018 due to intermittent convulsions started from the age of 1 year and 2 months. The initial manifestation was binocular gaze, the reaction was reduced, no obvious limb shaken, and the duration was tens of seconds. After remission, fatigue and sleep were observed, and his presentation during intermittent period was as usual. Convulsions occurs once about every 10 days and refractory to oral administration of carbamazepine. One month ago, a rapid body shake was occurred and sometimes accompanied by paroxysmal general weakness, with a few seconds of relief, but frequent episodes. Physical examination found head circumference was 44 cm, other features including facial dysmorphism, triangular face, wide and long philtrum, thin upper lip, thicker lower lip, sparse hair on the head, transverse palm of right hand, and normal gait. Gezer Intelligence Scale DQ=57, and EEG showed background rhythm was slow, a large number of spikes and sharp waves in the pillow and crotch area were distributed, an extensive spine waves were distributed in large quantities, full-guided slowwave burst with myoclonic seizures. The onset of focal episodes initiated from the right occipital region and the temporal region were detected once each. The gene mutation analysis revealed a de novo c. 3293 G>A in exon 24 of the SMARCA2 gene on the chromosome 9. The reported mutations in 61 children included in-frame deletion mutations in two cases and missense mutations in 59 cases. Conclusions　Up to date, 75 cases of Nicolaides-Baraitser syndrome have been reported in foreign literatures. This article firstly reports a case of Nicolaides-Baraitser syndrome in China.

Clinical characteristics and mutation analysis of epilepsy with mental retardation limited to females caused by PCDH19 gene

FANG Qiong, CHEN Lang, CHEN Qiaobin, et al

Journal of Clinical Pediatrics. 2019, 37(5):  378.  doi:10.3969/j.issn.1000-3606.2019.05.013

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Objective　To explore the clinic characteristics of epilepsy with mental retardation limited to females (EFMR) and the mutations of PCDH19 gene. Methods　The clinic feature, EEG, brain MRI, gene mutations detected by Sanger sequencing or targeted next generation sequencing and treatment were retrospectively analyzed. Results　The patient was a one year and eleven months old girl. Seizures onset was sensitive to heat, occurring in clusters and various forms. At the same time, the patient showed cognitive retardation and autism-like performance. A de novo PCDH19 gene mutation was found. Few spike waves were occurred in the EEG. The brain MRI was normal. The treatment of this disease’s epileptic attack was difficult. Conclusions　Onset in EFMR is characterized in clusters and sensitive to fever. Early epilepsy gene detection helps to evaluate prognosis of the disease and offers genetic counseling.

The treatment of recombinant human growth hormone for children on chronic peritoneal dialysis

ZHAI Yihui, XU Hong, SHEN Qian, et al

Journal of Clinical Pediatrics. 2019, 37(5):  381.  doi:10.3969/j.issn.1000-3606.2019.05.014

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Objective　Growth retardation is a common and significant problem for children with end stage renal disease (ESRD). It has a serious impact on adult life and may increase mortality. Treatment of ESRD with dialysis may not completely successful in restoring normal growth. Recombinant human growth hormone (rhGH) may be an effective treatment for dialysis children to gain linear growth. The treatment of rhGH has not routinely been used for children on dialysis in China. We performed this retrospective analysis to study the effect of rhGH on improving linear growth of ESRD children on peritoneal dialysis (PD). Methods　Clinical data of two ESRD children with chronic PD received rhGH treatment after exclusion of contraindication was retrospectively analyzed. The dose was 0.15 IU/kg iH qd x 6 days/week, for 8 months. Results　Both patients were female with short stature at diagnosis of ESRD at the age of 8 years and 8 months and 9 years and 6 months, respectively. After one year of PD, case 1 experienced faster linear growth (Height SDS increased from -1.9 to -1.4). However, case 2 still had short stature (Height SDS decreased from -2.3 to -2.4). After 8 months of rhGH treatment, both cases had significantly increased growth velocity (P=0.014). Case 1 grew 7.5 cm during 8 months of rhGH treatment. Case 2 grew 9 cm during 8 months of rhGH treatment. After discontinuation of rhGH treatment for 8 months, the growth velocity of both cases significantly decreased again (P=0.042), although the height SDS still improved (Case 1, Height SDS increased from -0.7 to -0.4. Case 2, Height SDS increased from -2.4 to -2.2). Case 1 grew 5.8 cm 8 months after discontinuation of rhGH treatment, while case 2 grew 4.5 cm. Conclusion　Uremia adversely affects linear growth of children. PD can partially improve the height growth. rhGH treatment can further increase the linear growth. No obvious side effects were observed in 8 months of rhGH treatment.

Clinical features and genetic analysis of two cases with Anderson- Fabry syndrome

ZHU Xiaoming, CHENG Shouchao, GONG Yuhong, et al

Journal of Clinical Pediatrics. 2019, 37(5):  385.  doi:10.3969/j.issn.1000-3606.2019.05.015

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Objective　To investigate the clinical features of Anderson- Fabry syndrome and the mutation features of its pathogenic gene, GAL. Method　The clinical manifestations and genetic tests of 2 cases with Fabry syndrome were retrospectively analyzed, and the related literatures were reviewed. The mutation analysis of two patients and their family members was conducted by next generation sequencing (NGS). Results　Onset age of both patients were on adolescents. The initial symptoms were pain in the extremities, sweating, hearing loss, proteinuria, abnormal renal function and superficial corneal spoon like turbidity of corneal stroma. Pathological changes by renal biopsy showed changes in podocyte swelling, foam like changes, focal hyperplasia and sclerosing glomerulonephritis. Brain MRI was normal. NGS identified a hemizygous mutation IVS6+3A>G in patient 1 inherited from his mother, and the patient's aunt is also a mutation carrier, the old sister of this patient was normal. Functional studies show that this mutation affects mRNA maturity. NGS found a hemizygote mutation c.58G>A in patient 2 that inherited from his mother has been reported elsewhere. Conclusion　Fabry disease patients have multiple organ abnormalities with varied manifestations, gene testing is conducive to the early diagnosis.

Clinical and hepatic pathological analysis of children with Alagille syndrome caused by 20p12.2 deletion

JIANG Tao, OUYANG Wenxian, TAN Yanfang, et al

Journal of Clinical Pediatrics. 2019, 37(5):  388.  doi:10.3969/j.issn.1000-3606.2019.05.016

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Objective　To analyze the clinical manifestations and liver pathology of child with Alagille syndrome (ALGS) caused by 20p12 deletion. Method　Clinical data of one child with ALGS was retrospectively analyzed. Result　A male patient was 1 month old at onset with cholestasis as the first manifestation, accompanied by special face, butterfly vertebra, kidney and heart disease. Pathological examination of liver biopsy showed liver cholestasis, moderate hepatic cell damage (G2S3) and no sign of bile duct reduction. The blood samples of this child and his parents were collected. The next generation gene sequencing detected a de novo 1.36 MB heterozygous deletion in 20p12.2 (9,288,462-10,654,178) which contained the JAG1 gene. After the diagnosis, he was given supportive treatment. After half a year of follow-up, the growth and development were normal. His jaundice was still prolonged. The long-term prognosis needs further follow-up. Conclusion　ALGS is an autosomal dominant disease with diverse clinical manifestations. Genetic test and liver biopsy were helpful for diagnosis.

Noncompaction of ventricular myocardium combined with electrical storm ：a case report and literature review

ZHANG Li, LI Yun, WANG Jianyi, et al

Journal of Clinical Pediatrics. 2019, 37(5):  391.  doi:10.3969/j.issn.1000-3606.2019.05.017

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Objective　To explore the diagnosis and treatment of noncompaction of ventricular myocardium (NVM) combined with ventricular electrical storm (ES). Methods　The clinical data of a girl with NVM combined with ES for recurrent syncope was retrospectively analyzed, and the relevant literature were reviewed. Results　The female child aged 8 years old was admitted for recurrent syncope within 14 months. Color doppler ultrasonography showed NVM with decreased left ventricle contractile function. Malignant ventricular arrhythmia repeatedly occurred in the form of ES, which was treated with electrocardioversion/ electrodefibrillation, temporary cardiac pacing to maintain hemodynamic stability, and later implantable cardioverter defibrillator (ICD) was implanted. During the one-year follow-up after operation, there was no attack of Adams-Stokes observed, but no significant improvement in cardiac enlargement and cardiac function was reported. Sudden death occurred 14 months after ICD implantation. Conclusion　NVM is a relatively rare type of cardiomyopathy. Ventricular arrhythmia is one of the main clinical manifestations of NVM. Continuous ventricular tachycardia often occurs repeatedly with ES manifestations. Sudden cardiac death may occur.

Treatment situation of Tourette syndrome in children and adolescents

SU Qunyan

Journal of Clinical Pediatrics. 2019, 37(5):  396.  doi:10.3969/j.issn.1000-3606.2019.05.018

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Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder characterized by multiple motor tics and at least one phonic tic. The onset of TS can be caused by a variety of genetic and environmental factors. Most TS comorbid with other psychiatric disorders, such as attention deficit hyperactivity disorder, obsessive-compulsive disorder, etc. Current treatment of TS includes behavioral intervention, pharmacological treatment, surgical treatment, and transcranial magnetic stimulation etc. This article reviews the treatment of TS in children and adolescents.