1例黑热病患儿的循证诊断和治疗

目的借助循证医学方法明确诊断疑似黑热病患儿并拟定治疗方案。方法针对1例患儿临床问题,遵循循证临床实践的PICO原则(患者或问题、干预措施、对照干预措施及结局指标),检索中华人民共和国卫生部和中国疾病控制中心官网,Cochrane Library,PubMed,Embase和CBM,收集和评价文献以取得当前最佳证据,并结合临床经验及患儿家属的意愿,拟定诊断及治疗方案。结果经循证分析,rK39免疫层析(rK39 ICT)诊断黑热病的检验效能高,快速、简单;葡萄糖酸锑钠仍可作为黑热病患者治疗的一线药物。在获得家属知情同意后,采用rK39 ICT和骨髓细胞学检查,快速明确诊断后给予葡萄糖酸锑钠治疗,患儿症状明显好转,未出现锑剂的不良反应,骨髓细胞学复查未见杜氏利什曼原虫无鞭毛体。结论循证临床实践可以快速而准确地解决临床问题。     

HEMOPHAGOCYTIC SYNDROME: A Rare Life-Threatening Complication of Visceral Leishmaniasis in a Young Boy

The authors report a case of hemophagocytic syndrome (HPS) associated with acute visceral leishmaniasis (VL). A 4-year-old boy was admitted with high fever, hepatosplenomegaly, and pancytopenia. Elevated serum ferritin and triglyceride, low fibrinogen levels, and bone-marrow (BM) histiocytic hyperplasia with prominent hemophagocytosis were consistent with a HPS. An initial diagnosis of kala-azar was refuted because of negativity of BM aspiration and serology for this parasite, and the diagnosis of HPS was made. Three months after first admission, reevaluation of the BM aspiration revealed many amastigotes of Leishmania parasites. The serology of VL became positive, finally establishing the diagnosis of VL. Although specific therapy for VL was instituted, the patient died 4 weeks after the diagnosis.     

HEMOPHAGOCYTIC SYNDROME: A Rare Life-Threatening Complication of Visceral Leishmaniasis in a Young Boy

The authors report a case of hemophagocytic syndrome (HPS) associated with acute visceral leishmaniasis (VL). A 4-year-old boy was admitted with high fever, hepatosplenomegaly, and pancytopenia. Elevated serum ferritin and triglyceride, low fibrinogen levels, and bone-marrow (BM) histiocytic hyperplasia with prominent hemophagocytosis were consistent with a HPS. An initial diagnosis of kala-azar was refuted because of negativity of BM aspiration and serology for this parasite, and the diagnosis of HPS was made. Three months after first admission, reevaluation of the BM aspiration revealed many amastigotes of Leishmania parasites. The serology of VL became positive, finally establishing the diagnosis of VL. Although specific therapy for VL was instituted, the patient died 4 weeks after the diagnosis.     

儿童内脏利什曼病相关性噬血细胞性淋巴组织细胞增生症四例临床分析

目的 总结分析4例内脏利什曼病(VL)相关性噬血细胞性淋巴组织细胞增生症(HLH)患儿的临床资料,提高继发性HLH诊治水平.方法 回顾性总结两家医院近期诊断的4例VL-HLH患儿的临床特征及诊治经过.结果 本组4例患儿男3例、女1例,均来自于明确VL疫区或具有明确疫区生活史.以长期发热、肝脾肿大、外周血全血细胞减少为显著临床表现,结合相关实验室检查均符合HLH诊断标准.2例患儿接受HLH化疗并有效,表现为体温恢复正常和脾脏回缩等,但持续贫血为突出临床特征.病程早期骨髓检查和(或)rk39免疫试纸条法检测均无阳性发现,是导致漏诊和误诊的重要原因.结论 VL是导致继发性HLH的1种少见基础疾病.对来自VL疫区或具有疫区生活史的患儿,HLH鉴别诊断时应充分考虑VL可能性,需反复骨髓检查和(或)免疫学检查,早期诊断,及时予VL特异性治疗.

Abstract：

Objective The clinical features of four cases of visceral leishmaniasis (VL)-associated hemophagocytic lymphohistiocytosis(VL-HLH)were retrospectively analyzed for the purpose of helping the diagnosis of secondary HLH. Method Clinical data of three childhood cases of VL-HLH documented in our hospital and one case diagnosed in the Capital Institute of Pediatrics was reviewed retrospectively,with particular emphasis on peculiar clinical manifestations and on clues to the diagnosis of this relatively rare disease entity.Result Three children were from endemic areas of VL, and the other one had lived in endemic area for one year,which was revealed by detailed history-taking.Clinically,VL-HLH is characterized by persistent fever, hepatosplenomegaly and pancytopenia, which is similar to those of HLH, and is one of the important reasons of delayed diagnosis or misdiagnosis. Based on the HLH-2004 protocol, all the four cases met the diagnostic criteria of HLH. In addition, bone marrow aspirate and immunologic detection of VL-specific antibody via rk39 dipstick test during the early disease course of VL-HLH yielded negative results.Two cases who received HLH-targeted therapy responded reasonably well, with rapid temperature normalization and spleen retraction. Nevertheless,Hb remained lower than normal,which we believed to be related to persistent red cell destruction by the invading parasite Leishmania donovani. Conclusion VL,a parasitic disease caused by Leishmania donovani, which is currently endemic just in 6 provinces in China, shares similar clinical picture of HLH and is an easily ignored underlying cause of secondary HLH.We suggest that VL should be in the list of differential diagnosis for any patients with HLH who lives in or has a definite travel history to endemic areas.Repeated bone marrow studies are highly warranted to make a definite diagnosis of VL, because bone marrow aspirate or rk39 dipstick test during early disease course might yield negative results.Although VL-HLH responds quite well to HLH-tailored chemotherapy,specific therapy against VL must be given to prevent disease recurrence, and HLH-targeted chemotherapy might be discontinued to prevent chemotherapy-related toxicities.     

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??Objective??To explore the value of clinical manifestations and routine examinations for the diagnosis of intrathoracic tuberculosis in children. Methods??The medical records of children under 16 years of age due to intrathoracic diseases in Shanghai Pulmonary Hospital affiliated to Tongji University School of Medicine from January 2009 to December 2011 were collected. According to the final diagnosis??the patients were divided into 2 groups??intrathoracic tuberculosis and non tuberculosis. The clinical manifestations and routine auxiliary examination results of the 2 groups were retrospectively analyzed. The children were divided according to age??10 years and over 10 years old in 2 groups??and the clinical data were also compared. Results????1??Pathological diagnoses were confirmed at 72.30% of proportion at whole patients??70.73% in TB group. The positive rate of tuberculosis bacteriology was 21.85% in TB group. ??2??The middle course of history accounted for 56.30% in TB children. At the onset of illess??the proportion of fever and predisposition to tuberculosis??positivity of tuberculin skin test??TST?? and serumal tuberculosis antibody??and average value of ESR??CRP??PLT and D-Dier in blood were significantly higher in TB group than those in non-TB group. ??3??About 59% of patients in the non-TB group were cured or were markedly improved by antibiotic treatment??which was effective in 10% of the TB group. ??4??Diagnostic accordance rate by radiology was 53.36% and the rate of misdiagnosis as tuberculosis accounted for 11.71% in non-TB group. Conclusion??Clinical features combined with medical history and laboratory results are helpful for the identification of tuberculosis in children under 16 years old.     

Leishmaniasis with cutaneous and visceral involvement in a 13-month old boy

Leishmaniasis is an anthropozoonosis caused by infection with leishmania parasites with either cutaneous, mucosal or visceral (kala-azar) involvement. While the benign cutaneous form is self-limited death occurs in approximately 80% of children with kala-azar when untreated. The diagnosis of kala-azar should not be missed in children presenting with fever, hepatosplenomegaly and pancytopenia especially with a history of sand fly bites. We report the case of a 13-month-old boy with both cutaneous and visceral involvement.     

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??Abstract??Objective??To analyze the prevalence characteristic of viral diarrhea in Guangzhou. Methods??Totally 985 specimens and condition information were collected from children with acute diarrhea in Guangzhou Children’s Hospital from August 2008 to July 2009?? then real-time fluorescence quantitative PCR was employed to detect HRV?? NORV?? EAdV?? ASTV and SPAV. Results??Among the 985 specimens 452 specimens were positive??in which 103 specimens was found with co-infection?? the annual rate of HRV?? NORV?? EAdV?? ASTV and SPAV was 28.0%?? 13.7 %?? 8.8%?? 4.9% and 1.0%.About 95% of positive samples were from infants under 2 years of age?? the incidence rate of watery stools?? fever and vomit was 88.9%?? 68.4% and 75.2%. Conclusion??Viral diarrhea is the most common cause in infants and young children with acute diarrhea. HRV is the most important pathogens. October to December is the peak incidence. Infants under 2 years is a major pop groups. Watery stools?? fever and vomiting is infantile viral diarrhea triad. Co-infection is common but has little influence on symptoms.     

Visceral leishmaniasis in Omani children: a review

A retrospective study was undertaken of 33 children with visceral leishmaniasis admitted to Sultan Qaboos University Hospital (SQUH), Oman between 1993 and 1999. The aim was to study the epidemiological and clinical characteristics of visceral leishmaniasis in children in Oman. All presented with fever, anaemia and splenomegaly. Hepatomegaly and lymphadenopathy were present in 88% and 39% of children, respectively. All had iron deficiency anaemia. Hypertriglyceridaemia is a new observation. Diagnosis in all cases was confirmed by histological demonstration of Leishmania amastigotes in bone marrrow (32 subjects) or splenic aspirate (one subject). All children were treated with sodium stibogluconate, 14 needed blood transfusion or blood products and all but two responded well. There were two deaths from associated complications (6% mortality).     

Visceral leishmaniasis in children: a review

Leishmaniasis is distributed worldwide and 13 million people are estimated to be infected, with about 1.8 million new cases each year. Approximately 50% of these patients are children. It should be suspected in children who present with specific manifestations and the diagnosis should be established, mainly by the demonstration of leishmania in tissue specimens. Molecular techniques could soon change this situation considering the promise they have shown in the diagnosis of other infectious diseases. Several advances in the treatment of visceral leishmaniasis have been accomplished during the past few years. All antileishmanial drugs are toxic and most have to be used parenterally for prolonged period. The therapy has been further complicated by large number of infected children and declining effectiveness of pentavalent antimonial compounds. Although the lipid formulations of amphotericin B are an important advance in therapy, their high cost precludes their use. Miltefosine, a phosphocholine analogue originally developed as anti-malignant drug, has been found to be highly active against leishmania in vitro and in animal model. The aim of this review is to evidence the recent advances in diagnosis and treatment of visceral leishmaniasis.     

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??Objective??To study the clinical features and SCN1A genes detection results in children with Dravet syndrome in order to provide reference for clinical treatment. Methods??The clinical data??SCN1A genes reports and antiepileptic drug effects of 60 DS children who were diagnosed from December 2013 to December 2015 were collected from the Children’s Hospital of Fudan University. Results??The onset of seizures occured during 1-9 months with a median of 6 months and 83.3% of patients were febrile seizures at frist onset??they were heat sensitive??and hot water bath induced seizures in 63.3%??38/60??. There were multiple phenotypes??including generalized tonic-clonic seizures??95.0%??57/60????partial seizures??alternating unilateral seizure????78.3%??47/60????status epilepticus??65.0%,39/60????myoclonic seizures??65.0%??39/60????and atypical absence ??63.3%??38/60??. Seizure ouccurred most frequently??2-3 times per month?? in 1-3 years of age. The median age of mental retardation was 18 months. The number of mental retardation and the positive rate of EEG increased with age. Dravet syndrome were intractable. In patients who used sodium ion blocking drugs 40.0%??24/60?? children had aggravated seizures. 80.0%??48/60?? patients had SCN1A mutation with missense and nonsense mutation accounting for over a half. There was no correlation between SCN1A mutations and onset age??sex??seizure type or seizure frequency. Conclusion??Dravet syndrome is a childhood-onset epileptic encephalopathy??which is not rare in the national seizure center. The positive rate of SCNIA mutation is high??which can help the diagnosis of DS. Anti-epiletic drug treatment for DS is difficult and the misuse of drugs is in a high proportion??so the diagnosis and treatment level still needs to be improved.