Transient myeloproliferation mimicking JMML associated with parvovirus infection of infancy

We report a 2-month-old infant with Parvovirus B19 infection presenting as transient myeloproliferation resembling juvenile myelomonocytic leukemia (JMML). Patient history, physical examination, and laboratory findings were suggestive of JMML. On viral serology, raised IgM and IgG titers for Parvovirus B19 infection were found in the absence of giant proerythroblasts and viral inclusions in the erythroid precursors. Follow-up showing a decrease in viral titers suggested parvovirus infection as an etiological factor for the development of myeloproliferative features. This case highlights the importance of viral serology in work-up myeloproliferative disorders of infancy and childhood.     

血清前降钙素在新生儿重症感染中的诊断价值

目的 探讨血清前降钙素(PCT)在新生儿重症感染中的诊断价值.方法 应用免疫荧光法对115例重症感染新生儿(细菌感染组75例,病毒感染组40例)和30例无感染征象患儿(对照组)入院时进行血清PCT测定,采用免疫散射比浊法检测CRP和WBC计数,检测结果 分为PCT<0.5 μg/L.0.5～2.0μg/L,2.0～10.0μg/L,≥10.0μg/L 4个等级,PCT0.5μg/L为阳性,2.0 μg/L,为强阳性.对明确细菌感染的新生儿复查PCT及CRP水平.结果 细菌感染组PCT阳性率为96%(72/75例).病毒感染组PCT.阳性率为35%(14/40)例),对照组PCT阳性率为6.67%(2/30例).3组间PCT阳性率两两比较,差异有显著意义(P<0.01).细菌感染组PCT强阳性率为44%(33/75例),与病毒感染组(10%)和对照组(0)比较,差异均有显著意义(Pa<0.01);病毒感染组PCT强阳性率与对照组比较,差异无显著意义(P>0.05).细菌感染组CRP阳性率明显高于病毒感染组和对照组(Pa<0.05);病毒感染组与对照组CRP比较,差异无显著意义(P>0.05).细菌感染组治疗后5例PCT≥10.0μg/L,2例死亡,3例病情恶化自动出院.结论 血清PCT是鉴别细菌感染和病毒感染、细菌感染预后判断及治疗监测的主要指标之一.     

Pulmonary Hypertension with Coexisting Portal Hypertension

A 10-year-old boy who had portal hypertension secondary to portal fibrosis/intrahepatic biliary atresia developed syncopal episodes related to strenuous activity. A work-up excluded a metabolic or neurologic etiology and cardiac catheterization demonstrated significant pulmonary hypertension. Six months later he died and an autopsy revealed pulmonary plexogenic arteriopathy without microemboli. Previous reported cases of this symptom complex are reviewed. In addition, he had a history of nonspecific colitis, ulcerative stomatitis, and conjunctivitis responsive to steroid therapy. The possible relationship of these manifestations to the portal pulmonary pathology is discussed.     

Imerslund-Grasbeck Syndrome Coexisting with P-Thalassemia Trait

A 9-year-old female patient with Imerslund-Gräsbeck syndrome and heterozygosity for β-thahsemia i presented.At admission the hemoglobin (Hb) was 7.2 g/dL; reticulocytes,0.2%; red blood cell count (RBC),2.3 × 10¹² /L; mean corpuscular volume (MCV),80 fL; hemoglobin A₂ (HbA), 4.3%; fetal hemoglobin intervening sequence (IVS) (HbF),1.9%.In the bone marrow aspiration smear, megaloblastic changes were obseroed; the Schilling test was compatible with mahbsorption.DNA anulysi revealed the presence of heterozygosity for the IVS-I-110 type of β-thahsemia mutation.Five months after treatment with vitamin B₁₂, Hb was found to be 12.8 g/dL; RBC,5 × 10¹²/L; MCV,63 fL.     

去甲基化治疗NRAS或KRAS突变JMML患儿15例临床分析

目的幼年粒单核细胞白血病(JMML)存在表观遗传学异常,评估去甲基化药物地西他滨治疗NRAS或KRAS突变JMML患儿临床疗效。方法回顾分析2016年4月-2018年11月按WHO 2016诊断标准确诊的15例JMML患儿,分子学检查为NRAS或KRAS体细胞突变,起始治疗均采用标准剂量的地西他滨[每个疗程20mg/(m~2·d)×5d],前4个疗程间隔4周,4个疗程后改为间隔8周,8个疗程结束停药观察;2个疗程后根据肝脾回缩、血常规、分子学指标进行疗效评估;并根据年龄、HbF值、核型进行危险级别分组,对高低危组进行疗效比较分析。治疗期间进展或2～4个疗程仍无效的患儿进入造血干细胞移植程序。结果 15例患儿中位发病年龄10(1～20)个月,男:女:13:2,地西他滨使用平均疗程6(2～8)个,10例患儿完成8个疗程;中位随访时间19(2～28)个月。总体治疗有效率80%,疾病无进展率100%,临床完全缓解5例,分子学完全缓解2例,部分缓解5例。低危组10例,高危组5例,低危组有效率100%,高危组有效率40%,高危组与低危组的治疗有效率存在显著性差异(P=0.022)。进入移植程序的4例均为高危患儿。治疗过程未出现明显肝肾等毒副作用,2例轻度骨髓抑制。结论去甲基化药物地西他滨可改善NRAS或KRAS突变JMML患儿临床疗效,尤其对于低危组患儿疗效显著。     

Diagnostic Dilemma: Left Aortic Arch with Right Descending Aorta—A Rare Vascular Ring

An infant had a rare type of vascular ring comprising a left aortic arch, a retroesophageal transverse aorta, a right descending aorta, and a right ligamentum arteriosum. Noninvasive studies including echocardiography with Doppler color flow mapping and magnetic resonance imaging were diagnostic of a vascular ring. However, only angiography prospectively established the exact type of ring. This report discusses the pitfalls of noninvasive studies used to diagnose unusual arch anomalies.     

Simultaneous control of third-degree graft-versus-host disease and prevention of recurrence of juvenile myelomonocytic leukemia (JMML) with 6-mercaptopurine following fulminant JMML relapse early after KIR-mismatched bone marrow transplantation

The authors describe a young boy with juvenile myelomonocytic leukemia (JMML) who relapsed 45 days after HLA and killer immunoglobulin-like receptor (KIR) mismatched unrelated donor bone marrow transplant (MMUD-BMT) and subsequently developed life-threatening graft-versus-host disease (GvHD). Treatment with 6-mercaptopurine (6-MP) appeared to control severe GvHD and possibly prevented recurrence of leukemic relapse.     

降钙素原在诊断早期新生儿感染中的意义

目的 评价降钙素原(PCT)、CRP、WBC总数及杆状核细胞对早期新生儿感染诊断的价值.方法 选择本院产科出生且小于3d的因血WBC、杆状核细胞和CRP增高诊断为新生儿感染的63例新生儿为研究对象.所有患儿入院后(抗生素使用前)立即取血做血常规、血培养及CRP、PCT检查,根据PCT结果 将患儿分为PCT增高组(PCT≥2μg·L-1)和PCT正常组(PCT＜2μg·L-1),治疗后复查上述指标.结果 63例患儿血培养均阴性,入院时血WBC(29.45±9.61)×109L-1,中性粒细胞为0.7836±0.0786,杆状核细胞为0.0770±0.0377,血小板为(241.44±9.30)×109L-1.PCT增高组28例,PCT中位数为7.07(2.02,53.57)μg·L-1,PCT正常组35例,PCT中位数为0.45(0.05,1.83)μg·L-1.2组胎龄、体质量、胎心异常史、羊水污染史、胎膜早破史、母亲发热史、母亲血象增高史、入院时血WBC及杆状核均无统计学差异,PCT增高组中5例CRP增高,PCT正常组CRP均正常.2组治疗前后各感染指标比较除血小板外差异均无统计学意义,PCT增高组治疗前后血小板均高于PCT正常组(Pa＜0.01).Spearman相关分析显示PCT与WBC总数及中性粒细胞杆状核细胞、血小板、CRP均无相关性(Pa＞0.05).结论 早期新生儿轻症感染以血WBC增高及杆状核增高为主,可伴或不伴CRP增高,PCT大多正常,因此PCT对诊断早期新生儿轻症感染的意义不大.     

巨细胞病毒感染与孤立性血尿的临床研究

巨细胞病毒(cytomegalovirus,CMV)感染在儿童可高达83％。CMV感染可引起多种不同的感染综合征,而CMV对上皮细胞的易感性,引起人们对CMV感染与肾脏疾病的关注。我们采用酶联免疫吸附法检测孤立性血尿患儿血清标本CMV特异性IgM,同时应用聚合酶链反应(PCR)法检测尿中 CMV-DNA,以探求CMV感染与孤立性血尿的关系。     

Lutembacher Syndrome With Unroofed Left Superior Vena Cava: A Diagnostic Dilemma

Lutembacher syndrome involving the association of congenital atrial septal defect (ASD), usually of the ostium secundum variety, and mitral valve disease is a well-known entity. Its association with a coronary sinus, ASD, and a persistent left superior vena cava (LSVC) draining into the left atrium (LA) (Raghib syndrome) is rarely described in the literature. This association in a 15-year-old boy erroneously deemed to be inoperable before referral to the authors’ hospital due to cyanosis in the presence of atrial septal defect (ASD) and mitral stenosis is described in this report. Evaluation by echocardiography followed by cine angiography confirmed the cause of cyanosis to be drainage of the LSVC into the LA together with an ASD and rheumatic mitral stenosis, a combination of Raghib and Lutembacher syndromes. The boy underwent successful surgical correction. The authors believe this is the second such case to be reported in the English literature and the first of its kind to be managed by surgical intervention.     

Breastfeeding and Helicobacter pylori Infection in Early Childhood: a Continuing Dilemma

Objective:

Helicobacter pylori (H. pylori) is the most common chronic bacterial infection in humans. Chronic colonization increases the risk of duodenal ulcer and gastric cancer. The risk factors for acquiring the infection have been extensively studied. However, there are conflicting results on the role of breastfeeding in the prevention of H. pylori infection. We conducted a study to evaluate the effects of breastfeeding on the H. Pylori infection in Kurdish children in Sanandaj, IR Iran.

Methods:

A historical cohort study was carried out from January 2011 through December 2012. Totally 221 children who were going to attain 2 years old during the study period were randomly enrolled. They were divided into two groups, i.e. breastfed and non-breastfed. We used H. pylori stool antigen test to detect infection in the selected group of children after age of 2 years and cessation of breastfeeding. Each group was subdivided into two subgroups, infected and non-infected. The associations of breastfeeding with H. pylori infection was assessed using statistical software.

Findings:

We found no difference in the odds of infection between breastfed and non-breastfed groups (OR=0.809, 95% CI [0.453–1.444]). An association between age and the prevalence of infection was found (P=0.008). There was an increase in the odds of infection as the family size grew (OR=1.93, 95% CI [1.04–3.6]) as well as increasing housing density (OR=2.12, 95% CI [1.10–4.10]).

Conclusion:

The data suggests that breastfeeding in infancy does not protect against H. pylori infection for long duration among studied children in Iran. The protective effects of breastfeeding, if any, are at most transient.     

Incomplete Kawasaki Disease followed by Systemic Onset Juvenile Idiopathic Arthritis- The Diagnostic Dilemma

The authors report an 18-mo-old girl who presented with features of incomplete Kawasaki disease and was refractory to intravenous immunoglobulin and infliximab treatment. She subsequently responded to pulse intravenous methylprednisolone therapy. The diagnostic dilemma arose after 2 mo when she developed clinical features suggestive of systemic onset juvenile idiopathic arthritis. Since both diseases have overlapping clinical features and no specific diagnostic laboratory tests, it is difficult for the clinicians even in the best of centers to reach a definitive diagnosis as illustrated by the index case.     

Optimal Diagnostic Testing for Urinary Tract Infection in Young Children

Urinary tract infection (UTI) is a major concern in young febrile children. Current recommendations favor use of urine obtained by bladder catheterization or aspiration, but opinion varies as to the best ancillary tests to predict a positive culture and guide initial management. The utility of dipstick leukocyte esterase, blood, and nitrite; unspun urine leukocyte count; gram stain of cytocentrifuged urine; and standard spun sediment examination was evaluated in 142 febrile, < 5-year-old children seen in the Emergency Department, 25 of whom had culture-proven UTI. Using sensitivity and negative predictive values as criteria for performance, unspun urine leukocyte count and gram stain of cytocentrifuged urine used in parallel was the best approach but still failed to detect some UTI. Analysis of the nature of the specimens evaluated provided explanation of differences from previous observations. Adoption of this modified approach to prediction of urinary tract infection appears to improve prediction but has operational implications and creates potential problems for the laboratory.This study was presented at the Fall Society for Pediatric Pathology Meeting, in Dallas, Texas, USA, September 2002.     

慢性活动性EB病毒感染的诊断标准和治疗

慢性活动EB病毒(CAEBV)感染是一种少见的发生在有免疫能力个体的严重综合征,主要表现为EBV感染后出现慢性或复发性传单样症状伴随EBV抗体的异体改变,病程中可出现严重的或致死的并发症。目前国内尚无CAEBV的诊断标准。参照国外最新研究进展,本文就其发病机制、诊治方案做一介绍,以提高临床对CAEBV的诊治水平。     

CMV seroconversion in pregnants and the incidence of congenital CMV infection

In this study, it was aimed to determine the ratio of CMV seroconversion in pregnant women, the prevalence of maternal CMV infection and also the incidence of congenital CMV infection in their newborns in the Antalya region of Turkey. During a one-year period, CMV-specific IgG and IgM were determined in all (n: 1027) pregnant women admitted at 8 to 20 weeks of gestation, an according to the presence or absence of anti CMV-IgM and CMV-IgG, pregnant women were classified as seropositive, seronegative and having maternal CMV infection. Differentiation of primary and recurrent CMV infection in women with both CMV-IgM (+) and CMV-IgG (+) antibody was determined by the avidity index (AI) of anti-CMV IgG. Ultrasonographic examination was done and amniocentesis was performed at 21 to 23 weeks of gestation in pregnants with primary infection. CMV DNA was investigated in the amniotic fluid by quantitative polymerase chain reaction (qPCR). Pregnants with recurrent infection were followed only by ultrasonography for the presence of fetal abnormalities. Neonates born to mothers with CMV infection were examined for the findings of congenital CMV infection and screened for anti- CMV-IgM, CMV DNA and CMV antigenemia in the first two weeks of life. The rate of seropositivity was found as 98.5% and the rate of seronegativity as 1.5% in pregnant women. The prevalence of maternal CMV infection was found as 1.2% and among these pregnant women, the incidence of primary and recurrent maternal CMV infection was 0.3% (3 women) and 0.8% (12 women), respectively. Congenital CMV infection was detected in one of the newborns born to mothers with primary infection while no infection was detected in any of the newborns of mothers with recurrent CMV infection, so the incidence of congenital CMV infection was found as 0.1% and the rate of intrauterine infection following the primary maternal infection was 33%. In conclusion, seroprevalence rate of CMV in pregnants is high and most (66%) infections are recurrent maternal CMV infection in our region. Thus, it does not seem to be cost-effective to screen all pregnant women for CMV infection, as in the other countries with high seropositivity rate.     

Pulmonary Atresia with Intact Ventricular Septum Coexisting with Coarctation of the Aorta

A newborn with pulmonary atresia, intact ventricular septum, and a bicommissural aortic valve underwent percutaneous pulmonary valvotomy at 1 day of age. Severe coarctation of the aorta became apparent only after spontaneous closure of the ductus arteriosus at 5 weeks of age, requiring repair by surgical end-to-end anastomosis. This is the first report of a child with pulmonary atresia with intact ventricular septum in association with coarctation of the aorta.     

幼年型粒单核细胞白血病单倍体相合造血干细胞移植1例

目的探讨单倍体相合造血干细胞移植治疗幼年型粒单核细胞白血病(JMML)的可行性。方法 1岁6个月JMML患儿,行单倍体相合造血干细胞移植。采用Bu/Cy+Flu+ALG方案预处理及CSA+MMF+MTX方案预防移植物抗宿主病(GVHD)。结果于移植+10 d粒系植入成功(1.2×109/L),移植+14 d血小板植入成功(260×109/L),造血初步恢复。移植+21 d查植入证据为100%嵌合。患儿移植后反复出现Ⅰ～Ⅱ度GVHD(皮肤型),给予免疫抑制剂治疗后好转。至今已生存14个月,未见复发。结论单倍体相合造血干细胞移植可能是治愈JMML的可行方法。     

婴儿胆汁淤积症伴巨细胞病毒感染56例临床分析

目的 分析婴儿胆汁淤积症伴巨细胞病毒感染的临床特点.方法 回顾性分析56例胆汁淤积症伴巨细胞病毒感染患儿的临床资料.结果 56例肝内胆汁淤积患儿均有不同程度的黄疸、肝脏肿大和(或)脾脏肿大、肝功能异常.经更昔洛韦抗病毒及退黄、护肝、利胆、营养支持治疗后血清总胆红素、结合胆红素、丙氨酸转移酶、γ-谷氨酰转移酶、血总胆汁酸等各项生化指标均有所改善,与治疗前相比差异有显著性(P<0.05,P<0.01),但天冬氨酸转移酶、血清碱性磷酸酶无明显下降.结论 巨细胞病毒感染普遍,应加强母孕期预防保健,早发现,早治疗.更昔洛韦治疗效果较好.     

Cytomegalovirus Infection of the Bowel in Infancy: Pathogenetic and Diagnostic Significance

Three infants had cytomegalovirus (CMV) infection of the bowel. Infected enteric ganglion cells were found in two, one of whom had hypoganglionosis and colonic dysmotility. The third infant had classic short segment Hirschsprung's disease and colitis with CMV inclusions in vascular endothelium, a situation wherein viral transformed cells may have led to misinterpretation of the diagnostic biopsy.