Table of Content

15 July 2017 Volume 35 Issue 7

  

Tuberous sclerosis complex secondary to fetal heart occupying lesions: a case report and literature review

　ZHU Ronghe, SUN Yuanyuan, LIANG Yaqin, CHEN Bin, YIN Weiwei, QIAN Yan

. 2017, 35(7):  481.  doi:10.3969/j.issn.1000-3606.2017.07.001

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　Objective　To explore the clinical characteristics of tuberous sclerosis complex (TSC). Methods　The clinical data of one child with TSC were collected. The clinical features and gene mutation were analyzed. Results　A 36-dayold girl had abnormal nodules found by echocardiography, which was considered multiple cardiac rhabdomyomas. There were multiple hypomelanotic macules distributed over the skin surface of the trunk and legs. Cranial MRI showed cortical nodules, subependymal nodules and cerebral white matter radial migration line. A mutation in the TSC2 gene (c.4541-4544delCAAA) was found by second generation high-throughput sequencing technology and tuberous sclerosis complex was confirmed. Conclusion　Gene detection is helpful in the early diagnosis of tuberous sclerosis complex.

Clinical characteristics and mid-term follow-up of Kawasaki disease in infants under 3 months

　LI Wei, ZHANG Li, HUANG Ping, WANG Zhouping, XIA Shuliang, YU Minghua, GUO Yan

. 2017, 35(7):  485.  doi:10.3969/j.issn.1000-3606.2017.07.002

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Objective　To summarize the clinical characteristics, follow-up and prognosis of Kawasaki disease (KD) in infants under 3 months. Method　The clinical data of infants under 3 months diagnosed with KD during January 2009 to December 2013 were analyzed retrospectively. Results　In a total of 1504 cases diagnosed with KD during during the study period, there were 40 (2.66%) infants under 3 months (30 males and 10 females). Except for fever, the frequencies of the other 5 main clinical manifestations were less than 50%. Laboratory tests suggested inflammatory reactions, thrombocytosis, anemia, and so on. Coronary artery disease was found in 32 cases (80%), including 24 cases of coronary artery dilatation, 8 cases of coronary artery aneurysm and 3 cases of coronary giant aneurysm. By the end of the follow-up period, there were no myocardial ischemia, myocardial infarction and death in all the patients; coronary artery diameter was normal in 37 cases (92.5%); 3 cases of giant coronary artery aneurysm still had coronary artery aneurysm and thrombosis. Conclusion　The clinical manifestations of KD in little infants were atypical, the incidence of coronary artery disease is high, and color doppler echocardiography should be performed in time.

Clinical features and treatment of paroxysmal supraventricular tachycardia in children

ZHANG Li, LI Yun, XIAO Tingting, XIE Lijian, SHEN Jie

. 2017, 35(7):  488.  doi:10.3969/j.issn.1000-3606.2017.07.003

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Objective　To explore the clinical characteristics and treatment of paroxysmal supraventricular tachycardia (PSVT) in children. Methods　The clinical data of 67 children with PSVT were analyzed retrospectively, and the therapeutic effects of different treatments were compared. Results　The clinical manifestations of infants were paleness, shortness of breath, irritability and sweating, and children showed chest tightness, palpitations, abdominal discomfort and fatigue. The curative effect of electric cardioversion, transesophageal atrial pacing, physical therapy, and drug therapy was statistically different (P<0.05),  The different cardioversion rates of them were observed for the treatment of paroxysmal supraventricular tachycardia. The cardioversion rate of transesophageal atrial pacing, was the highest, and the rate of physical therapy was the lowest. There was no significant difference in the cardioversion rate between propafenone, digoxin and amiodarone. Conclusion　The clinical manifestations of PSVT in infants are atypical and easily to be ignored. There are many methods for treatment of PSVT. The vagus nerve can be stimulated first, and, if no response, either drugs or electric cardioversion and transesophageal atrial pacing can be used. The cardioversion rate of transesophageal atrial pacing is higher. The drug effectiveness for the treatment of PSVT depends on many factors, and our choice of medication varies from person to person.

Head-up tilt test induced shortened QT interval: a case report and literature review

YE Yi, GU Beiyin, XU Xinyi, LIU Tingliang

. 2017, 35(7):  491.  doi:10.3969/j.issn.1000-3606.2017.07.004

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　Objective　To explore the cause of secondary QT interval shortening. Method　The data of a child with vasovagal syncope and cardiac depression in whom shortened QT interval was induced in head-up tilt test (HUTT) was analyzed retrospectively, and the related literatures were reviewed. Result　A 12-year-old boy visited for fainting when brushing his teeth in the morning. ECG showed sinus bradycardia, heart rate at 55 times /min and normal QT and QTc interval. Dynamic electrocardiogram showed sinus rhythm, mean heart rate at 70 times/min, atrial anterior contraction 3 times, normal mean QT and mean QTc. UCG showed approximately normal heart structure and the left ventricular systolic function. There was no abnormality in EEG and cranial CT. His fasting blood glucose was 5.2 mmol/L. The basal tilt test was positive with vasovagal syncope and cardiac depression. During the tilt table test, Holter monitoring showed that sinus arrest occurred in the child when upright tilt for16 min, and then fainted. Time of sinus arrest was 2.9 s and 11.4 s, respectively, and artificial chest compressions were performed. The QT interval was shortened (QT=330 ms), and so was QTc interval (QTc=320 ms). The ratio of QT/QTp was 78% (the lower limit of normal QT interval was 88% of QTp) before sinus arrest occurred. Conclusion　Increased vagal tone may induce QT interval shortening.

Indications for percutaneous renal biopsy in children with asymptomatic hematuria

　LI Yufeng, WEI Minjiang, WU Weilan, CHEN Huimin, DONG Yu, JIN Jing, ZHU Yaju, GONG Yinliang, SHAN Wenjie

. 2017, 35(7):  494.  doi:10.3969/j.issn.1000-3606.2017.07.005

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　Objective　To explore the indications for percutaneous renal biopsy of asymptomatic hematuria in children. Methods　The renal pathological types of 485 children with asymptomatic hematuria were analyzed retrospectively. According to the degree of hematuria and whether or not combined with proteinuria, the children were divided into microscopic hematuria group, gross hematuria group and hematuria with proteinuria group. The microscopic hematuria group was further divided into urine red blood cell<15/HPF group, (15~30)/HPF group, and >30/HPF group according to hematuria degree. Results　In 227 males and 258 females with the average age of 7.23±2.93 years, there were 318 cases in microscopic hematuria group, in which the most common pathological types were minor lesions (64.8%), followed by focal glomerular lesions (16.7%) and focal segmental glomerulosclerosis (8.2%). There were 119 cases in gross hematuria group, in which the most common pathological types were also minor lesions (26.1%), followed by IgA nephropathy (24.4%) and mesangial proliferative glomerulopathy (20.2%). There were 48 cases in hematuria with proteinuria group, in which the most common pathological types were IgA nephropathy (29.2%) and minor lesions (29.2%). The distribution of the pathological types among microscopic hematuria group, gross hematuria group and hematuria with proteinuria group were statistically different (χ2=152.03, P<0.001). In three groups, microscopic hematuria group had the highest proportion of minor lesions, while gross hematuria group and hematuria with proteinuria group had higher proportion of IgA nephropathy and mesangial proliferative glomerulonephritis . In microscopic hematuria group, there were 149 children with urine red blood cell<15/HPF, 96 with urine red blood cell (15~30)/HPF, and 73 with urine red blood cell >30/HPF. There was no difference in pathological types among three sub-groups (χ2=15.18, P=0.51), and mild lesions were the most common pathological types in each group. Conclusion　Renal biopsy should be performed at earliest possible time to make pathological diagnosis in asymptomatic hematuria children with gross hematuria or proteinuria.

Expression of TRPC 6 in renal tissue and its significance in children with primary nephrotic syndrome

HAO Sheng, WU Ying, HE Weixun, KANG Yulin, HUANG Wenyan, ZHU Guanghua

. 2017, 35(7):  498.  doi:10.3969/j.issn.1000-3606.2017.07.006

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Objective　To explore the relationship between the expression of transient receptor potential cation channel subfamily C member 6 (TRPC6) and podocyte injury in children with primary nephrotic syndrome (PNS) and its clinical significance. Methods　The renal tissue of 18 children with PNS was obtained. The pathological changes of kidney were observed by routine section staining and light microscopy. The structural changes of podocyte were observed by electron microscope. The mRNA and protein expressions of TRPC6  in tissues were determined by qPCR and immunohistochemistry, respectively. Further the correlation of TRPC6 mRNA with serum levels of albumin (Alb), creatinine (Cr), triacylglycerol (TG), cholesterol (Tch), complement C3 and 24 h urinary protein quantitation and estimated glomerular filtration rate (eGFR) were analyzed respectively. Results　The expression of TRPC6 protein in renal tissue of children with PNS was higher than that in the control group, and the difference was statistically different (P<0.05). The relative expression of TRPC6 mRNA in renal tissue of children with PNS was positively related to the expression of TRPC6 protein (r=0.508, P<0.05), but there was no correlation of expression of TRPC6 mRNA with serum levels of Alb, Cr, TG, Tch, C3, eGFR and 24h urinary protein quantitation (P>0.05). Conclusion　The pathological types of PNS were mainly podocyte lesions, and the expression of TRPC6 protein was increased in podocytes. TRPC6 detection may be helpful in the diagnosis of podocyte lesions.

Significance of TIM-3 gene and IFN-γ detection in primary nephrotic syndrome in children of Han and Mongolia nationalities

HUANG Jinyue, GUO Yanyan, ZHAO Yun

. 2017, 35(7):  503.  doi:10.3969/j.issn.1000-3606.2017.07.007

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　Objective　To explore the association of T cell immunoglobulin- and mucin-domain-containing molecule-3 (TIM-3) gene polymorphism and IFN-γ levels with the incidence of primary nephrotic syndrome (PNS) in children. Methods           A case-control study was conducted and 21 Han patients with PNS were selected and included in case group. Meanwhile, 20 each from Mongolian and Han were selected and assigned into control group and at least three generations of their family members were from the same nationality. PCR-restriction fragment polymorphism analysis was used to detect and analyze single nucleotide polymorphisms of exon －574A/C in TIM-3 gene in PNS children and controls. Also the genotype and allele frequencies between the two groups were compared. Enzyme linked immunosorbent assay (ELISA) was used to detect the level of serum IFN-γ and its changes was analyzed. Results　There was no significant difference in the distribution of genotypes (AA, AC, CC) of exon －574A/C in TIM-3 gene between the Han and Mongolian subgroups in control group (P=0.741). Neither did the allele frequency between the two groups (P=0.655). Compared with control group (Han and Mongolian), the frequencies of AA, AC and CC genotypes were 9.52%, 28.57% and 61.90% respectively in －574A/C loci of the Han nationality children with PNS. There was significant difference in genotypes distribution between the two groups (P=0.017). The frequency of C allele in PNS children of Han nationality was 76.2% which was higher than that in normal control group (50%), and the difference was statistically significant (P=0.005). Compared with A allele carriers, the risk of PNS in C allele carriers increased by 3.20  times (95%CI: 1.39~7.37). There were no significant differences in serum IFN-γ among the Han nationality with PNS, Han and Mongolian normal control groups (P>0.05). Conclusion　The single nucleotide polymorphism of the exon －574A/C of TIM-3 gene may be related to the pathogenesis of PNS in children. In addition, IFN-γ is not associated with the incidence of primary nephrotic syndrome in children.

Association of fluid overload with acute kidney injury and prognosis in critically ill children

WANG Sanfeng, CHEN Jiao,LU Chunjiu,LI Xiaozhong,LI Yanhong

. 2017, 35(7):  508.  doi:10.3969/j.issn.1000-3606.2017.07.008

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　Objectives　To investigate the association of fluid overload (FO) with the development and mortality of acute kidney injury (AKI) and to evaluate the predictive value of FO in mortality of critically ill children. Method　A prospective study was conducted among critically ill children who were admitted to the children's intensive care unit (PICU). FO levels were assessed during the course of the disease and PRISM Ⅲ scores were evaluated within 24 hours of admission. Binary logistic regression analyses were conducted to evaluate the association of FO with the development and mortality of AKI after adjusting for confounding factors. The area under the receiver operating characteristic curve (AUC) was calculated to assess the predictive value of FO for mortality. Results　In 362 children included, there were 26 children (7.18%) having average FO≥5%, and AKI in 24 children (6.63%) and 18 children (5.0%) died. The mean FO (OR=1.26, 95%CI: 1.10~1.43, P=0.001) and the maximum FO (OR=1.12, 95%CI: 1.02~1.23, P=0.018) were significantly correlated with the development of AKI in critically ill children within 7 days of admission to PICU. However, after adjusting for age and PRISM Ⅲ, both factors had no association with AKI (all P>0.05). After adjusting for the potential confounders such as AKI and the severity of disease, the average FO was significantly associated with mortality (AOR=1.34, 95%CI: 1.12~1.60, P=0.002). The AUC of mean FO that predicted mortality risk was 0.801 (P<0.001). Conclusion　Fluid overload is associated with the development and the prognosis of AKI in critically ill children, and has important predictive value for mortality.

Risk factors of mortality in neonates with severe bacterial pneumonia

XIE Zhaoyun, XIONG Yun, SUN Jing, HU Yang

. 2017, 35(7):  512.  doi:10.3969/j.issn.1000-3606.2017.07.009

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　Objective　To explore the risk factors of mortality in neonates with severe bacterial pneumonia. Method　The clinical data of 249 neonates with severe bacterial pneumonia from January 2011 to November 2015 were analyzed retrospectively, and the related factors of mortality were analyzed. Results　Of the 249 children, 45 died and mortality rate was 18.07%. A total of 251 strains of pathogenic bacteria were detected in the bacterial culture, and the top 5 pathogens were Escherichia coli, Staphylococcus aureus, Klebsiella pneumoniae, Streptococcus pneumoniae and Staphylococcus epidermidis. Univariate analysis showed that the gestational age, premature rupture of membranes, age at the time of hospital admission, birth weight, feeding, Apgar score, total bilirubin, complications, traumatic treatment, parenteral nutrition, and multidrug-resistant bacteria infection between the death group and survival group were significantly different (all P<0.05). Multivariate logistic regression analysis showed that the age at admission <7 days (OR=4.30, 95%CI: 1.74~10.64), Apgar scores <7 (OR=3.24, 95%CI: 1.23~8.49), and having complications (OR=6.81, 95%CI: 2.65~17.46), multidrug-resistant bacteria infection (OR=6.16, 95%CI: 1.90~19.99) and traumatic therapy (OR=3.82, 95%CI: 1.03~14.16) were the independent risk factors of mortality in neonatal severe bacterial pneumonia (all P <0.05). Conclusion　The mortality rate of neonatal severe bacterial pneumonia is relatively high. And the main risk factors of death were the age at admission <7 days, Apgar scores <7, and having complications, multidrug- resistant bacteria infection and traumatic therapy.

EB virus infection with facial paralysis in children: a case report and literature review

ZHU Qiguo, CHEN Jingfang, LIN Xiaoxin, LIN Jiancheng, YU Hui, ZHU Qirong, SHEN Jun

. 2017, 35(7):  516.  doi:10.3969/j.issn.1000-3606.2017.07.010

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Objective　To explore the treatment of children with EB virus infection accompanied by facial paralysis. Method　The clinical data of a child with EB virus infection accompanied by facial paralysis was analyzed retrospectively, and the related literature were reviewed. Results　A 2-year-old boy was admitted to hospital due to fever and mouth askew for 4 days. After admission, he was confirmed to have EB virus infection and viremia by serology and polymerase chain reaction, and then treated with acyclovir. The symptoms of facial paralysis and EB viremia disappeared completely 14 days after antiviral treatment. There was no recurrence in the short-term follow-up. Interestingly, the literature analysis shows that there is still limited evidence for the antiviral treatment by acyclovir in children with acute infection of EB virus associated with facial paralysis. Conclusion　Antiviral treatment may be beneficial to EB viremia with facial paralysis.

The clinical manifestations and genetic analysis of lisencephaly in children　

　ZHAO Min, LIU Fang

. 2017, 35(7):  519.  doi:10.3969/j.issn.1000-3606.2017.07.011

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Objective　To explore clinical characteristics and pathogenic gene of lisencephaly. Methods　The clinical manifestation, laboratory examination and gene detection results of lisencephaly in two children were analyzed retrospectively, and relevant literature were reviewed. Results　Two male children with lisencephaly are at ages of 7 months, and 3 years and 4 months respectively. Both of them were admitted to hospital due to epilepsy and loss of  consciousness at the time of attack. There was no obvious abnormality in laboratory examination. Both of their EEG indicated epileptic wave. Cranial MRI showed lissencelphaly. Gene analysis showed that there was a heterozygous mutation of IVS3-1G>A in PAFAH1B1 gene in a child, which resulted in the deletion of exon 4 in mRNA level by functional analysis. No mutations were found in the parents of the child. The other one had c.274A>G mutation (p.K92E) in PAFAH1B1 gene, which has not been reported before, and his parents were normal. Conclusion　Patients with lissencelphaly may combine with epilepsy, and the PAFAH1B1 gene mutation is the common cause.

Clinical analysis of drug hypersensitivity syndrome in 22 children

LIU Cong, XU Hongmei, TAN Liping, YANG Lin

. 2017, 35(7):  522.  doi:10.3969/j.issn.1000-3606.2017.07.012

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　Objective　To analyze the clinical diagnosis and treatment of drug hypersensitivity syndrome (DIHS) in children. Method　The allergenic drugs, clinical manifestations, laboratory examinations, treatment effects, complications and prognosis in 22 children with DIHS were analyzed retrospectively. Results　All 22 patients had a medication history and fever. Among them, 90.9% patients had erythema morbilliforme, 90.9% had liver damage, 18.2% had renal damage, 54.5% had superficial lymph node enlargement and 36.4% had granulocytosis. Five patients had serious complications. One patient was complicated by autoimmune hemolytic anemia, 3 patients had transaminase elevated greater than 10 times and 1 patient died due to hepatic failure, hepatic encephalopathy and multiple organ failure. The treatment mainly included the use of glucocorticoid and gamma globulin, and, if necessary, plasma exchange. Conclusion　The incubation period of children with DIHS is long, and the skin lesions are mainly erythema morbilliforme. Most of the affected organs are mainly liver, and some of patients can be combined with eosinophilia. Glucocorticoid therapy is effective.

The effect of intrauterine growth restriction on the development of brain function in premature infants

FU Wei,LIU Ying,LIU Jing

. 2017, 35(7):  525.  doi:10.3969/j.issn.1000-3606.2017.07.013

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Objective　To explore the effect of intrauterine growth restriction (IUGR) on the development of brain function in premature infants. Methods　A total of 110 premature infants of gestation age of 32-36 weeks were monitored by NicoletOne neonatal cerebral function monitor within 72 hours after birth during January 2015 to February 2016. There were 50 small for gestational age infants (SGA) and 60 appropriate for gestational age infants (AGA). They were continuously monitored for 4-6 hours every time, and the indices of aEEG continuity, sleep wake cycle (SWC), inter-burst interval (IBI), minimum and maximum voltage were compared between two groups. Results　The frequency of aEEG continuity, the rate of SWC, and the maximum and minimum voltage in SGA group were all lower than those in AGA group, while the IBI was longer than that in AGA group, and there were significant differences (P<0.05). The frequency of aEEG continuity, the rate of SWC, IBI, and the minimum and maximum voltage were similar (all P> 0.05) among birth weight

Sialidosis: a case report

　JI Taoyun, ZHANG Yao, ZHANG Yuehua, BAO Xinhua

. 2017, 35(7):  529.  doi:10.3969/j.issn.1000-3606.2017.07.014

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　Objective　To explore the clinical features and pathogenic genes of sialidosis. Methods　The clinical data and genetic test results of a family with sialidosis were retrospectively analysed. Results　The proband was a 13-year-old girl who presented with limb pain at age 7, followed by progressive vision loss and convulsive seizure. In addition, she also had the sign of ataxia. Fundus examination showed optic atrophy in her eyes. Visual evoked potential showed that the latency of binocular P100 was significantly prolonged. The elder brother of the proband showed similar manifestation. PCR was used to amplify the exons and exon-intron boundaries of the NEU1 gene, and DNA direct sequencing was used to detect the mutation in this gene. It was found that both proband and her brother carried two known pathogenic heterozygous mutations in the NEU1 gene, c.239C>T (p.P80L) and c.544A>G (p.P80L) respectively from both their mother and father of normal phenotype. Conclusion　The causative mutation of the NEU1 gene in the family of sialidosis has been defined.

Congenital generalized lipodystrophy caused by mutation of BSCL2 gene: a case report and literature review

ZHANG Mengqi, MA Mingsheng, QIU Zhengqing

. 2017, 35(7):  532.  doi:10.3969/j.issn.1000-3606.2017.07.015

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　Objective　To explore the clinical and genetic characteristics of congenital generalized lipodystrophy (CGL). Method　The clinical data of one child with CGL caused by BSCL2 gene mutation were analyzed retrospectively and relative literature were reviewed. Results　A 2-year-9-month old girl had clinical manifestations of a lack of subcutaneous fat, acanthosis nigricans, hepatolienomegaly and mild hypophrenia. Laboratory examinations showed hypertriglyceridemia, hyperinsulinemia and cardiomyopathy. The peripheral blood from the child and her parents were collected and 4 genes, AGPAT2, BSCL2, CAV1 and PTRF, were sequenced by Sanger. The results showed a heterozygous mutation of BSCL2 gene from maternal frameshift (c.567568delGA, p.E189EfsX12) and paternal nonsense mutation (c.565G>T,p.E189X) respectively in the child, and both mutations were pathogenic ones. By a literature review, it is known that BSCL2 gene mutation is the most common cause of in Asian. In CGL with BSCL2 gene mutation, the commom clinical manifestations include disappearance of systemic adipose tissue, acathosis nigricans and hepatomegaly, and the incidence of myocardial infarction and mental retardation were 40% and 30% respectively. Conclusion　The main clinical manifestations of CGL caused by BSCL2 gene mutation were loss of systemic adipose tissue and metabolic disorder at an early age. It was often accompanied by myocardial lesions and mental retardation. Gene diagnosis analysis should be made as earliest possible time for the children suspected of this disease.

Dieulafoy disease in a child: a case report and literature review

　ZHANG Yong, TU Yuanyan, HE Shaoshan, ZHOU Xinlong, LI Zhen, WANG Yongpei

. 2017, 35(7):  537.  doi:10.3969/j.issn.1000-3606.2017.07.016

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　Objectives　To explore the clinical diagnosis and treatment of Dieulafoy disease in children. Method　The clinical features, endoscopic features and treatment of Dieulafoy disease in a child were reviewed. Results　The 2-year-5month old girl was admitted due to hematemesis for 7 hours. She was diagnosed of Dieulafoy disease by the typical endoscopic appearance. Gastroscopy showed that the lesion was located in gastric angle which was the predilection position of Dieulafoy disease. The small red blood vessels in the central part of the erosion area was exposed on the mucosal surface. The high frequency electrocoagulation under gastroscope was performed and effect was definite. Conclusion　Dieulafoy disease is rare in children and lacks obvious clinical features. Endoscopic treatment has definite effect with little trauma and is the first choice of treatment.

Liver pathology and gene analysis in children with Shwachman-Diamond syndrome　

　JIANG Tao, OUYANG Wenxian, TAN Yanfang, LI Shuangjie

. 2017, 35(7):  540.  doi:10.3969/j.issn.1000-3606.2017.07.017

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　Objective　To analyze the gene abnormality and liver pathology in Shwachman-Diamond syndrome (SDS) in a child. Method　The clinical data of one child with SDS were analyzed retrospectively. Result　A male patient was 1 month old at onset with neutrophil decrease as the first manifestation, accompanied by anemia, elevated transaminase and repeated infection. Exocrine pancreatic dysfunction was atypical. Pathological examination of liver biopsy showed slight damage of liver cells under light microscope. The blood samples of child and parents were collected, and homozygous mutations of SBDS (NM_016038.2) Intron2  c.258+2T>C p.? were detected by two generation gene sequencing. And these mutations were from both his parents. Conclusion　Gene testing is helpful in diagnosing SDS and we suggest that liver biopsy should be performed if condition allows.

Blepharophimosis-ptosis-intellectual-disability syndrome: a case report and literature review

　CAO Lifang, TONG Xiaomei, TIAN Yaping, SONG Lin

. 2017, 35(7):  543.  doi:10.3969/j.issn.1000-3606.2017.07.018

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　Objective　To explore the clinical features and gene mutations of blepharophimosis-ptosis-intellectualdisability syndrome (BPID). Methods　The clinical data, diagnosis and treatment of a child with BPID in neonatal intensive care unit (NICU) were reviewed. Based on the literature retrieved from PubMed database, the common classification, clinical features, diagnosis and genetic counseling of BPID and its affiliated blepharophimosis-mental retardation syndromes (BMR) were reviewed. Results　This male infant was 39 weeks of gestational age with birth weight of 1920 g, and was admitted to NICU 15 min after birth due to dyspnea. The main clinical manifestations were facial deformity such as biepharophimosis, ptosis and micromandible, inspiratory dyspnea with laryngeal cartilage softening, malformations of the thorax and feeding difficulties. A heterozygous mutation in UBE3B gene was identified by complete exon sequencing and he was diagnosed of BPID, a rare genetic disorder. Reviewing the literature, there was no relevant report in domestic. While one foreign literature was found to report 5 patients from 4 families having a subtype of BMR, a kind of autosomal recessive diseases caused by mutations in the UBE3B gene. Conclusion　BPID is a rare clinical entity of BMR. Complete exon sequencing can be used to diagnose the disease.

Advances in imaging and electroencephalogram in the diagnosis of brain injuries in preterm infants

LIN Yingyi

. 2017, 35(7):  548.  doi:10.3969/j.issn.1000-3606.2017.07.019

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The cerebral hemodynamic disorders are most likely to occur in preterm infants, especially in extremely preterm infants with gestational age <28 weeks, due to the immaturity of cerebral vascular development and poor autoregulation of cerebral blood flow. Also the neurons, oligodendrocytes and their precursors in preterm infants are abnormally sensitive to hypoxia and ischemia with low tolerance and high vulnerability, which lead to a higher incidence of brain damage and neurological sequelae in preterm infants than that in full-term infants. Because brain injury in the premature often lacks the obvious nervous system symptom and the sign clinically, it is easy to be misdiagnosed and hence suitable treatment opportunity is missed. Cranial ultrasonography, MRI and EEG are the special examinations for early diagnosis of brain injury in preterm infants. In the diagnosis of early intracranial hemorrhage, cranial ultrasonography is superior to both MRI and EEG, but MRI especially DWI has the highest diagnostic value in the evaluation of leukoencephalomalacia, and EEG plays a supporting role in diagnosis of brain injury in each period. The three techniques have their own advantages and disadvantages. In clinical practice, if three techniques can be rationally used for the diagnosis of brain damage in preterm infants, it would be helpful to detect the disease in time and treat appropriately as soon as possible, and thus reduce the neurological sequelae and disability in preterm infants, and improve the long-term prognosis.

Progress in research of statins in the treatment of familial hypercholesterolemia in children

FAN Zhiwen

. 2017, 35(7):  553.  doi:10.3969/j.issn.1000-3606.2017.07.020

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　Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipid metabolism. Because the early FH can cause atherosclerosis, the morbid and mortality of severe cardiovascular disease are increased in patients. Thus more and more emphasis has been put on treatment with statin since childhood so as to improve the long-term prognosis. This article reviews the necessity, effectiveness and safety of statins in the treatment of FH in children, and also presents some existing problems and thoughts.