McArdle Disease: Familial Variety of Muscle Phosphorylase Activity in Two Siblings

Two siblings with McArdle disease were studied biochemically and histochemically. Case 1 was a 9-year-old girl and case 2 was a 14-year-old boy. No elevation of serum lactate after exercise was noticed in both cases. PAS staining in case 1 was markedly increased, whereas in case 2 it was moderately increased. Muscle glycogen content in case 1 was 51 mg/gr muscle and in case 2 it was 38.7 mg/gr (control: 11.2 ± 1.28 mg/gr). Muscle phosphorylase activity was completely absent in case 1 and was about 50% of normal value in case 2, by both determinations of histochemical and direct biochemical methods. SDS-polyacrylamide gel electrophoresis revealed a little amount of muscle phosphorylase protein in both cases and also no abnormal migration of residual activity of muscle phosphorylase was found on polyacrylamide electrophoresis. These data indicate that occurrence of familial variety of muscle phosphorylase in two siblings was due to difference of muscle phosphorylase activity and also different onset of disease and clinical severity among two cases are depending on the degree of residual amount of the enzyme.     

A review of four cases of Branhamella catarrhalis bacteremia in children

Branhamella catarrhalis was recovered from one blood culture each from three infants and one neonate admitted to the Trousseau Hospital (Paris) between 1986 and 1988. Clinical features included fever in every case, otitis in three cases, pneumonia in two cases, diarrhea in one case, and enterocolitis in one case. All the strains were beta-lactamase producers. Outcome was favorable in every case. The antimicrobial agent used was erythromycin in one case, amoxicillin in one case, and a third generation cephalosporin in two cases. We reviewed the pediatric literature for reports of Branhamella catarrhalis infections that seem more frequent or better detected than previously. The high prevalence of ampicillin-resistant strains is pointed out.     

Evaluation of the WHO clinical case definition for pediatric HIV infection in Bloemfontein,South Africa

The WHO clinical case definition for pediatric HIV infection has been designed to be used in countries where diagnostic laboratory resources are limited. We evaluated the WHO case definition to determine whether it is a useful instrument to discriminate between HIV-positive and HIV-negative children. In addition, clinical features not included in this case definition were recorded. We recorded clinical data from 300 consecutively admitted children in a state hospital in Bloemfontein, South Africa, and tested these children for HIV infection. A total of 222 children were included in the study; 69 children (31.1 per cent) were HIV positive. The sensitivity of the WHO case definition in this study was 14.5 per cent, the specificity was 98.6 per cent. Apart from weight loss and generalized dermatitis, the signs of the WHO case definition were significantly more often seen in HIV-positive than in HIV-negative children. Of the clinical signs not included in the WHO case definition, marasmus and hepatosplenomegaly especially occurred more frequently in HIV-positive children. Based on these findings we composed a new case definition consisting of four signs: marasmus, hepatosplenomegaly, oropharyngeal candidiasis, and generalized lymphadenopathy. HIV infection is suspected in a child presenting with at least two of these four signs. The sensitivity of this case definition was 63.2 per cent, the specificity was 96.0 per cent. We conclude that in this study the WHO case definition was not a useful instrument to discriminate between HIV-positive and HIV-negative children, mainly because its sensitivity was strikingly low. The simplified case definition we propose, proved to be more sensitive than the WHO case definition (63.2 vs. 14.5 per cent), whilst its specificity remained high.     

不典型急性链球菌感染后肾小球肾炎3例报告

目的提高对急性肾小球肾炎特殊临床和肾脏病理的认识。方法回顾性分析3例具有不典型急性肾小球肾炎临床表现患儿的临床和病理资料。结果 3例患儿均以急性肾小球肾炎表现起病,例1和例3在病程中出现肾病综合征表现;例2在6周后肉眼血尿方转为镜下血尿;例1于病程11周时仍为肾病水平蛋白尿、直至病程30周时尿蛋白消失;例2和例3分别于病程5周和4周恢复肾功能。例2和例3血清补体C3于病程6周内恢复,例1于病程11周恢复。例2和例3抗链球菌溶血素O(ASO)滴度增高。3例患儿的肾活检组织光镜和电镜改变均符合毛细血管内增生性肾小球肾炎的特点,免疫病理改变例1以IgM和C3沉积为主,例2和例3以C3沉积为主。结论上述3例患儿均诊断为急性链球菌感染后肾小球肾炎,但临床和病理特点具有不典型性。     

FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS: AN AUTOPSY STUDY

We describe four classical cases of familial hemophagocytic lymphohistiocytosis (FHL), a macrophage-related, autosomal recessive fatal disorder. Parental consanguinity was present in three cases. All patients presented with fever, neurological involvement of varying degrees, hepatosplenomegaly, cytopenias, deranged liver function tests, and coagulogram, hypofibrinogenemia (three cases), and hyperlipidemia (one case). An antemortem diagnosis could not be made, although it was suspected in one case. Necropsy (done in three cases and postmortem liver biopsy in one case) revealed classical features of FHL. Florid lymphohistiocytic infiltrate exhibiting hemophagocytosis was seen in the bone marrow, liver, spleen, lymph nodes and brain (examined in two case). In addition to this, focal infiltrates were seen in the kidneys, lung, pancreas, testes, adrenals, and skin. Marked lymphoid depletion was seen in one case in the lymph nodes and spleen.     

磁共振成像表观扩散系数变化对新生儿化脓性脑膜炎脑损伤纵向评估

背景：既往尚无新生儿化脓性脑膜炎在不同颅脑并发症下ADC值的纵向变化研究。 目的：回顾性总结新生儿化脓性脑膜炎在发病后不同病程阶段的头颅MR表现,在髓鞘化过程中分析不同颅脑并发症下脑组织ADC值随病程的变化规律。 设计：病例对照研究。 方法：以足月新生儿化脓性脑膜炎并行头颅MR检查者为病例组,基于颅脑并发症中有无脑实质损伤灶和脑积水分为病例1组（无脑实质损伤灶和脑积水）、病例2组（有脑实质损伤灶,无脑积水）、病例3组（有脑积水无脑实质损伤灶）和病例4组（有脑实质损伤灶和脑积水）。以发病至头颅MR检查间隔时间0~7 d、~28 d、~60 d和~120 d分为病程A~D组;根据MR检查时患儿日龄,病程A组分为A1组（0~14 d）和A2组（~28 d）,病程B组分为B1组（~28 d）和B2组（~60 d）。与病例组同期因其他疾病在同院行常规头颅MR且未观察到异常病变的儿童为对照组。 主要结局指标：相同日龄或相同病程下MR评估新生儿化脓性脑膜炎脑实质ADC值变化趋势。 结果：173例新生儿化脓性脑膜炎进入本文分析,病例组MR检查302例次,病程A~D组有241例次MR检查的ADC值进入本文分析;对照组20例。随着日龄的增加,对照组和病例组ADC值均呈降低趋势。不同病程(相同日龄)比较结果中,大脑皮层、深部白质在各个病程中,病例1~3组和对照组ADC值差异均无统计学意义（胼胝体压部的部分病程除外）;皮层下白质在病程0~60 d中,病例2和3组ADC值明显低于对照组,病例3组及部分病程中病例2组ADC值明显低于病例1组,皮层下白质在病程61~120 d中,病例2、3组和对照组ADC值差异无统计学意义,病例1组(除外顶叶白质)ADC值明显高于对照组;深部灰质核团在病程0~30 d中,病例1~3组ADC值明显低于对照组,在病程31~120 d中,病例1~3组和对照组ADC值差异均无统计学意义。 结论：在新生儿化脓性脑膜炎患儿,皮层下白质在病程1~2个月ADC值降低,病程3~4个月时ADC值正常或升高,提示髓鞘化进程受阻;深部灰质核团ADC值在病程1个月内降低,而病程2~4个月时恢复正常。MR DWI定量ADC值有助于对无脑结构损伤的新生儿脑膜炎微观损伤的评估。     

Reduced case fatality among hospitalized children during a war in Guinea-Bissau: a lesson in equity

BACKGROUND: During a recent armed conflict in Guinea-Bissau, we observed a marked decline in the case fatality among hospitalized children at the only paediatric department in the country. AIM: To analyse the causes behind the observed fall in case fatality. MATERIAL: All children hospitalized at the only paediatric department in the capital of Guinea-Bissau. The war cohort comprised all children hospitalized during the war, which lasted from June 1998 to May 1999, and the peace cohort comprised all children hospitalized in the year preceding the war. As part of a longitudinal community study, we also registered all children being hospitalized from the Bandim Health Project's study area, including routinely collected information on socio-economic background factors. METHODS: The war cohort was compared with the peace cohort in terms of determinants for hospital case fatality. Through information in the community register, we examined post-hospital mortality in the 2 wk after discharge as well as socio-economic differences in recruitment during the war. Hospital case fatality was estimated by odds ratios and compared by multiple logistic regression. Community mortality risk was estimated by deaths per person years. RESULTS: The case fatality among children aged 0-14 y fell during the war (age-adjusted OR = 0.58; 95% CI: 0.50-0.68). There was a uniform reduction in case fatality among children hospitalized less than 7 d, while we observed no decline among children hospitalized longer. There were more children per bed during the war and mean hospitalization time was shorter, and post-discharge mortality also fell (mortality ratio (MR) = 0.57; 95% CI: 0.40-0.83). Adjustment for socio-economic confounders in recruitment during the war period made no difference to the estimated decline in case fatality. The decline in case fatality at the hospital was not explained by a general decline in mortality. Compared with the preceding year, the mortality ratio was 1.34 (1.20-1.51) in the Bandim Health Project's study area during the war. Adjusted for age, the decline in case fatality at the hospital was most marked for disadvantaged groups. For example, the general reduction in case fatality was 42% (95% CI: 11-63); however, children of mothers without any schooling experienced a reduction of 73% (95% CI: 27-90%), whereas the reduction was only 33% (95% CI: 14-61%) for children of mothers with school education. CONCLUSION: The decline in case fatality could be explained neither by a general decline in childhood mortality nor by changes in recruitment or discharge policy. The decline was therefore most likely due to improved treatment as a result of better availability of drugs funded by humanitarian aid and the presence of dedicated staff, which was offered relief food as compensation. Interventions improving case management may have a proportionately larger effect for poor families.     

Paraplegia in Childhood Malignant Disease

1. Five cases of paraplegia due to secondary malignant disease in children are described.
2. There was one case of generalized lymphosarcoma; one case of acute leukaemia who had recurrent neurological complications, paraplegia developing terminally; one case of metastatic Wilm's tumour; one case of Ewing's sarcoma; and one case in which the histological diagnosis was not confirmed, but was probably lymphosarcoma.
3. Tumours of the spinal cord and appendages are uncommon in children and are more often primary than secondary.
4. Spread to the spinal canal may be by direct extension from the abdomen or vertebrae or by blood-borne metastases.
5. The management of paraplegia includes care of the bladder, the bowels and of the skin.     

抗中性粒细胞胞浆抗体特异性靶抗原的检测在儿科临床中的应用

目的了解抗中性粗细胞胞浆抗体(ANCA)特异性靶抗原在儿科相关疾病中的检出率。方法用酶联免疫法(ELISA)对近年来临床送检的297份不同患者的血清进行靶抗原蛋白酶3(PR3)、髓过氧化物(MPO)的检测。结果总的阳性检出率为8．75％(26／ 297),其中川崎病阳性检出率为5．05％(15／297),8例识别PR3,7例识别MPO。过敏性紫癜阳性检出率为1．35％(4／297),3例识别 PR3,1例识别MPO。红斑性狼疮阳性检出率为1．01％(3／297),2例识别PR3,1例识别MPO。原发性肾病综合征阳性检出率为0．67％ (2／297),1例识别PR3．1例识别MPO。另有原发性小血管炎和Wegener’s肉芽肿各1例,分别识别PR3和MPO,结论 MPO和PR3- ELISA法具有较好的敏感性和特异性,对儿科相关疾病的临床诊断,对了解发病机制具有辅助作用,为预测疾病的愈后提供有价值的参考。     

Clinical case definition for the diagnosis of acute intussusception

OBJECTIVE: Because of the reported association between intussusception and a rotavirus vaccine, future clinical trials of rotavirus vaccines will need to include intussusception surveillance in the evaluation of vaccine safety. The aim of this study is to develop and validate a clinical case definition for the diagnosis of acute intussusception. METHODS: A clinical case definition for the diagnosis of acute intussusception was developed by analysis of an extensive literature review that defined the clinical presentation of intussusception in 70 developed and developing countries. The clinical case definition was then assessed for sensitivity and specificity using a retrospective chart review of hospital admissions. Sensitivity of the clinical case definition was assessed in children diagnosed with intussusception over a 6.5-year period. Specificity was assessed in patients aged <2 years admitted with bowel obstruction and in patients aged <19 years presenting with symptoms that may occur in intussusception. RESULTS: The clinical case definition accurately identified 185 of 191 assessable cases as "probable" intussusception and six cases as "possible" intussusception (sensitivity, 97%). No case of radiologic or surgically proven intussusception failed to be identified by the clinical case definition. The specificity of the definition in correctly identifying patients who did not have intussusception ranged from 87% to 91%. CONCLUSIONS: The clinical case definition for intussusception may assist in the prompt identification of patients with intussusception and may provide an important tool for the future trials of enteric vaccines.     

Comparison of cerebrospinal fluid in newborns and in infants ≤2 months old with or without meningitis

Background: The aim of the present study was to evaluate the characteristics and accuracy of cerebrospinal fluid (CSF) parameters for neonatal meningitis, by comparing CSF data in newborns and in infants ≤2 months of age, with or without meningitis. Methods: This case–control study was performed on 120 newborns and infants ≤2 months old. 60 patients with meningitis were considered as the case group and 60 ill patients without meningitis were defined as the control group. Each of the two groups was divided into 0–1 months and 1–2 months old. CSF characteristics were compared in newborns in the case and control groups; in infants ≤2 months old in the case and control groups; and in healthy newborns and healthy infants ≤2 months old. Results: The mortality rate was 16.7% in the case group. The differences of CSF parameters in the case and control groups were mostly not significant, except for CSF glucose only in term newborns <7 days old (P= 0.04), and white cell count (WBC) only in 0–7‐day‐old term and preterm neonates (P= 0.04 and P= 0.01, respectively). Polymorphonuclear leukocyte (PMNL) level in the case group was significantly higher than in the control group (P= 0.02). CSF characteristics in healthy newborns were nearly the same as in healthy infants ≤2 months old. Prevalence of positive CSF culture was 31.7% in the case group. The most common pathogen was Neisseria meningitidis in the two age groups. The concomitant positive blood culture in the case group was 26.3%. Conclusion: In the case of meningitis with negative CSF culture and Gram stain, diagnosis can be made on CSF parameters, clinical and laboratory findings and suspicion of meningitis. Therefore, a clinical prediction rule to classify risk for bacterial meningitis on evaluation of CSF parameters in any region should be established. More regional trials are needed to enhance the probability of diagnosis according to CSF parameters.     

Beta cell nesidioblastosis

Two patients with severe hypoglycemia since birth are described. In both hyperinsulinism was demonstrated during spontaneous hypoglycemic attacks or could be provoked by various tolerance tests. In case I considerable obesity and psychomotor retardation was present at the age of one year whereas in case II weight gain was normal and development unaffected.Immunofluorescence microscopic and electron microscopic examination of the pancreas after subtotal pancreatectomy revealed diffuse islet cell hyperplasia with nesidioblastosis in case I and -cell nesidioblastosis in case II. The hyperplastic and nesidioblastotic areas consisted mainly of -cells. In addition, an accumulation of somatostatin producing cells was observed in case I, and some cells were found with ultrastructural signs of both endocrine and exocrine function.In both cases, pancreatic insulin release was inhibited by a prolonged somatostatin infusion. The results of tolerance tests did not allow a diagnosis of the underlying pancreatic lesion. In case II, leucine-sensitive hypoglycemia detected soon after birth, was present even after subtotal pancreatic resection.Therapeutic trials with diazoxide in case I and a leucine-restricted diet in case II were only of temporary benefit. After subtotal pancreatectomy there was clinical improvement in both cases, but case II still needs a leucine-restricted diet. The familial occurrence of persistent hypoglycemia in both cases suggests that -cell nesidioblastosis may be a hereditary disorder.With support of the Landesamt für Forschung des Landes Nordrhein-Westfalen     

Fetal Inclusion: Report of Two Cases and Review of the Literature and Diagonostic Criteria

ABSTRACT  Two cases of fetal inclusion were presented and 27 cases ever reported in Japan were reviewed. The first case presented had placental component and highly differentiated visceral organs in addition to the vertebral column and skin covering the included mass. The second case also had vertebral column and skin but the organoid pattern was not so clear as seen in the first case. It was most important to differentiate included fetus from teratoma in this second case and in some cases reviewed here, in which an orderly arranged visceral organ was not noted. Thus, diagnostic criteria described by Ohkawa et al was revaluated on the basis of embryological consideration and then it was concluded that included fetus could be diagnosed only by the presence of vertebral column and skin covering the included mass. Finally, it is proposed that fetal inclusion may be regarded as an acardiac structure embodied in the autosite.     

Management of nonprogressive sharp foreign body in a two year old

Foreign body (FB) ingestion is a common and potentially serious problem in the pediatric age group. We describe a case of a 2-year-old boy who presented 15 days after ingesting a metallic nail. He was asymptomatic since then, and the FB had not passed spontaneously. Emergency laparotomy was done, and the FB was removed. Spontaneous passage had been inadvertently allowed for 15 days in this case, instead of the recommended 3 days. To our knowledge, this is the first case report of ingested metallic nail not having passed spontaneously after a period of 15 days. Our emphasis on presenting this case report has been on the timely surgical intervention.     

体质量小于5kg婴儿心内直视手术的体外循环管理

目的 总结体质量＜5 kg婴儿心内直视手术体外循环(CPB)的管理经验.方法 回顾性分析行心内直视手术的体质量＜5 kg 婴儿168例的临床资料.男104例,女64例;年龄3 d～6个月;体质量2～5 kg其中常温5例,浅低温88例,中低温52例,深低温低流量23例,深低温停循环选择性脑灌注10例.深低温患儿应用pH稳态、甲泼尼龙、甘露醇.CPB中监测ECG、平均动脉压、经皮血氧饱和度、鼻咽温、肛温、尿量和中心静脉压.结果 CPB时间为18～155(45.26±23.36) min;主动脉阻断时间为18～85(33.22±20.25) min;自动复跳率为98.2%.患儿均顺利脱离CPB.15例出现并发症,包括低心排综合征、低氧血症各3例,延迟关胸2例,肺不张、气胸、肾功能不全、纵隔感染、消化道出血各1例,再次开胸止血及残余分流各1例.术后死亡4例,病死率为2.34%,主要死亡原因为心肺功能衰竭.结论 CPB中应用个体化管理和采用综合措施是婴儿心内直视手术成功的保障.     

Cardiac involvement in juvenile rheumatoid arthritis

Four cases with cardiac involvement in patients suffering from systemic outset of juvenile rheumatoid arthritis are reported. The cases were chosen out of 83 juvenile rheumatoid arthritis patients studied from 1975 to 1988. They developed respectively myopericarditis (case 1), myocarditis (case 2), endopericarditis (case 3), myopericarditis (case 4). The drug employed in the acute disease phase was exclusively prednisone; in all subjects the acute inflammatory stage resolved.     

降钙素原、C反应蛋白正常的婴幼儿细菌性肺炎临床分析

目的探讨降钙素原(PCT)、C反应蛋白(CRP)正常的婴幼儿细菌性肺炎的临床特点。方法比较2013年1月1日至2015年3月30日期间,92例PCT、CRP正常(病例组)与95例PCT、CRP明显升高(对照组)的婴幼儿细菌性肺炎患儿的临床资料。结果病例组的月龄中位数为9.25个月,低于对照组的16.55个月,院前病程中位数为5.17 d,长于对照组的3.50 d;差异均有统计学意义(P0.05)。病例组患儿发热、呼吸增快、低氧血症比例明显少于对照组,差异有统计学意义(P0.05)。83.69%的病例组患儿院外使用抗生素,明显高于对照组,差异有统计学意义(P0.05)。病例组的病原菌以流感嗜血杆菌最多,对照组则以肺炎链球菌最为常见。结论婴幼儿肺炎患儿PCT、CRP均正常仍不能排除细菌性肺炎的可能。     

Cardiac tamponade as a delayed presentation of Neisseria meningitidis infection in a 5-month-old infant

This is a case of a 5-month-old female infant diagnosed with primary meningococcal pericarditis. Pericarditis is a well-recognized but uncommon complication of meningococcal infection. Primary meningococcal pericarditis, defined as purulent pericarditis without any clinical evidence of disseminated meningococcemia, meningitis, or other foci of meningococcal infection, is exceedingly rare, with only 21 reported cases since the first case was reported in 1939. This case report of primary meningococcal pericarditis is the youngest case and only the second case reported in an infant in the English literature to date.     

Diffuse cortical nephroblastomatosis. Apropos of a case

The authors report a case of massive bilateral, and asymmetric nephroblastomatosis which was treated successfully by nephrectomy and chemotherapy. The authors discuss the clinico-pathologic significance of the present case and insist upon the requirement of a treatment (i-e-chemotherapy) in every case.     

ToRCH “co‐infections” are associated with increased risk of abortion in pregnant women

ToRCH infections (toxoplasmosis, rubella, cytomegalovirus and Herpes simplex virus) have long been known to be associated with bad obstetric outcomes. However, little information is available about the impact of ToRCH co‐infections on the outcome of pregnancy. Hence, we tested the IgG and IgM antibodies to Toxoplasma gondii, Rubella, Cytomegalovirus and Herpes Simplex Virus among 81 pregnant women with abortion (case group) and 98 pregnant women with normal delivery (control group). In the single‐infection model, only CMV‐IgM seropositivity was significantly increased in case than control group (25.9% in case and 12.2 % in control, OR = 2.5, P = 0.019). In the co‐infection model, 14 patterns were recognized, but two patterns were significantly increased in the case than the control group. Co‐infection of T. gondii IgG + CMV IgM was 9.1‐fold increased in the case than the control group (8.6% in the case and 1% in control, OR = 9.1; P = 0.024). Also, co‐infection of T. gondii IgG + HSV IgG + CMV IgM was 7.7‐fold increased in case than the control group (7.4% in case and 1 % in control, OR = 7.7; P = 0.04). Although the OR of other co‐infections was higher in the case than the control group, the difference was not statistically significant. These findings indicate that ToRCH co‐infections are associated with increased risk of abortion than single infection. Hence, the rates of co‐infections should be considered in prenatal screening of ToRCH infections.