Diversity of Neuromuscular Pathology in Lethal Multiple Pterygium Syndrome

Lethal multiple pterygium syndrome (LMPS) is an uncommon fetal-onset disorder of unknown etiology. The pathogenesis of LMPS has been suggested to be early-onset fetal akinesia, fragile collagen, or generalized edema. Information on the neuromuscular pathology of LMPS in the literature is generally scanty. We present the findings from a review of 14 fetuses with features of LMPS from the archives of the Hammersmith Hospital Perinatal Pathology Department. Autopsy reports, photographs, fetograms, and histological sections were examined, and additional special stains and immunostaining were performed on muscle sections. In five cases, there was evidence of autosomal recessive inheritance. One case was later shown to be due to glycogen storage disease type IV. The skeletal muscle bulk was reduced in all fetuses and the remaining muscle showed a range of histological appearances including vacuolar degeneration, dystrophy, a generalized or patchy myotubular appearance, and generalized hypotrophy. In one, the histological appearance was essentially normal. Two cases had abnormalities in the brain. Large motor neurons were present in the anterior spinal horns of all fetuses in whom the spinal cord could be examined. There was no evidence of cartilaginous joint fusion. We conclude that LMPS is the phenotype resulting from fetal akinesia commencing in the first or early second trimester. In the majority of cases, the precise underlying cause will not be identified, however, occasionally a metabolic or neurodevelopmental disorder or a specific primary myopathy may be demonstrated, providing adequate autopsy investigations are undertaken.     

Lethal Multiple Pterygium Syndrome with Complete Intestinal Duplication

ABSTRACT We present an autopsy case of a 23-week female abortus with the cardinal signs of lethal multiple pterygium syndrome (LMPS), including multiple pterygia with congenital joint contracture, fetal hydrops, cystic hygroma and intrauterine growth retardation. In addition, she had complete tubular intestinal duplication, not yet reported in this group of conditions.     

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。     

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.     

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.     

Case management: ambiguous at best.

This article defines case management with an emphasis on the functions and providers of various case management models. Nursing Case Management delivery system is compared with several other models of case management. The potential role for the nurse practitioner in case management is discussed as well as ethical pitfalls that are attributed to various case management models.     

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.     

Management of febrile infants and children by pediatric emergency medicine and emergency medicine: comparison with practice guidelines

OBJECTIVES: Management of febrile infants and children remains controversial despite the 1993 publication in Pediatrics and Annals of Emergency Medicine of practice guidelines. Our aim was to determine the management of febrile infants and children by pediatric emergency medicine (PEM) fellowship directors and emergency medicine (EM) residency directors and compare their approach with the published practice guidelines. METHODS: Four case scenarios were sent to 64 PEM directors and 100 EM directors in the United States and Canada, describing four febrile, nontoxic infants and children aged 25 days (case 1), 7 weeks (case 2), 5 months (case 3), and 22 months (case 4). Respondents were asked to select which laboratory tests and radiographs they would obtain and to decide on treatment and disposition for each hypothetical case. RESULTS: Ninety-two percent (53/64) of PEM directors and 64% (64/100) of EM directors responded (overall response rate 74%). Compliance with the guidelines (PEM/EM) was 54%/16% for case 1, 31%/6% for case 2, 35%/19% for case 3, and 20%/11% for case 4. Only 11% of PEM and 2% of EM directors followed the guidelines for all four cases. Overall, directors performed fewer laboratory tests, ordered more chest radiographs and treated fewer patients with antibiotics than the expert panel suggested. EM directors ordered more chest radiographs (cases 1-4) and admitted more patients (case 2) than PEM directors. CONCLUSIONS: There is poor compliance with published practice guidelines in the management of febrile infants and children among PEM and EM directors.     

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。     

How long to prosecute child sexual abuse for a community using a Children's Advocacy Center and two comparison communities?

This article explores the length of time between key events in the criminal prosecution of child sexual abuse cases (charging decision, case resolution process, and total case-processing time), which previous research suggests is related to victims' recovery. The sample included 160 cases in three communities served by the Dallas County District Attorney. Most cases (69%) took at least 60 days for the charging decision, with cases investigated at the Children's Advocacy Center having a quicker time than either comparison community. Only 20% of cases had a case resolution time within the 180-day target suggested by the American Bar Association standard for felonies. Controlling for case characteristics, one of the three communities and cases with an initial arrest had a significantly quicker case resolution time. Total case processing generally took more than 2 years. Implications include the need to better monitor and shorten case resolution time.     

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.     

小儿白血病形态学、免疫学分型研究

小儿白血病形态学、免疫学分型研究程岩，田根全，袁文菊，杨小红青海省儿童医院ＴＨＥＲＥＳＥＡＲＣＨＯＦＭＯＲＰＨＯＬＯＧＩＣＡＮＤＩＭＭＵＮＯＬＯＧＩＣＡＬＣＬＡＳＳＩＦＩＣＡＴＩＯＮＯＦＴＨＥＰＥＤＩＡＴＲＩＣＬＥＵＫＥＭＩＡ￥ＹａｎＣｈｅｎｇｅｔａ...     

儿童基底节病变17例临床分析

目的总结儿童基底节病变的临床特征。方法对17例经头颅CT和/或MRI证实的存在基底节病变的患儿临床资料进行分析。结果17例中起病时分别为肢体活动障碍7例,手震颤2例,惊厥5例,智力运动落后3例。所有患儿影像学检查均存在基底节区病变。17例患儿诊断分别为特发性甲状旁腺功能低下1例,线粒体脑肌病4例(1例具体诊断为Leigh病),Hyalinebody肌病1例,Aicardi-Goutieres综合征1例,偏侧惊厥-偏瘫综合征1例,脑肿瘤1例,风湿性舞蹈病2例,特发性基底节钙化4例,2例未做出具体诊断。结论基底节病变是影像学上的一个征象,涉及的疾病种类很多,对其病因进行探讨,将有助于提高对本组疾病的诊断。     

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.     

Development of a fetal rabbit model to study amniotic band syndrome

Amniotic band syndrome (ABS) is a group of fetal malformations caused by fibrous adherences. Species such as sheep, rats, and mice have been used to study this syndrome. We developed a fetal rabbit model using 24 fetuses from punctured uteri. We found one case of syndactyly, one case of amniotic banding, two cases of extremity deformities, one case of a tail deformity, one case of head compression, and one case of open eyelids. Other malformations have been described in an amnion rupture sequence model (exencephaly and cleft palate). The rabbit fetus is an adequate model in which to develop this syndrome.     

早产儿下肢静脉血栓3例报告

目的提高对早产儿静脉血栓诊断及治疗的认识。方法回顾性分析3例早产儿下肢静脉血栓的临床特征、治疗经过及预后,并结合文献进行分析。结果 3例早产儿的胎龄29~36周,出现血栓时间为出生1~57 d。1例予外周静脉穿刺植入中心静脉导管(PICC),3例均有感染征象及创伤。予溶栓及抗凝治疗1例,大剂量溶栓治疗1例,此2例均治疗成功且无出血并发症;另1例患儿放弃治疗后病情恶化。结论危重症早产儿是血栓症的高危人群。感染、置管、易栓体质及母亲高危因素均是血栓发生的高危因素。早发现、早诊断并采取合理有效的个体化治疗可改善预后。     

Argon plasma coagulation for blue rubber bleb nevus syndrome in a female infant.

We report on the case of an 8-month-old baby with blue rubber bleb nevus syndrome (BRBNS) presenting with recurrent bleeding from multiple haemangiomas in the colon and rectum. Treatment with Argon plasma coagulation resulted in long-term success. Our case is unique in that 1) it is the first documented case treated by argon plasma coagulation; 2) it is only the second case in the world literature with involvement of the genital tract; 3) it is the youngest patient treated endoscopically to date; 4) it is the endoscopically treated case with the longest follow-up; 5) it represents the second case of BRBNS reported from this part of the world; and 6) it expands the spectrum of mucosal lesions amenable to this new form of treatment. Argon plasma coagulation is a simple, inexpensive and effective treatment for selected lesions in BRBNS.     

妊娠期尿结石对胎儿早产流产的影响

目的 探讨妊娠期尿路结石及其处理对胎儿早产流产的影响.方法 对比性分析妊娠期尿路结石与胎儿早产流产的相关关系.结果 6年共收治孕产妇31 295例,发现妊娠尿结石162例,占同期住院孕产妇的0.52%(162/31295),其中症状性结石119例(73.46%),保守治疗(CM)95例,外科干预治疗(SI)24例,保...     

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.     

Pseudohyperphosphatemia associated with high-dose liposomal and lipid complex amphotericin B when tested with Synchron LX 20 (Beckman/Coulter) phosphorous assay

Although case reports of hyperphosphatemia have been previously described in patients receiving liposomal amphotericin B, this has not been reported in patients receiving the lipid complex formulation. We report a case of hyperphosphatemia that persisted despite switching from liposomal to lipid complex amphotericin B in a child with invasive zygomycosis. This case suggests that in the context of acute renal dysfunction, hyperphosphatemia may also be observed with lipid complex amphotericin B. This case highlights the importance of differentiating between pseudohyperphosphatemia and hyperphosphatemia to prevent complications.