先天性巨结肠症术后小肠结肠炎发生与合并神经节细胞减少症的相关性分析

目的探讨先天性巨结肠症（HD）合并神经节细胞减少（HYP）与术后肠炎发生的相关性。方法对97例在我院行巨结肠根治术的患儿进行随访，随访时间1．5～8年，平均3．4年。分为两组：A组70例，为HD；B组27例，为HD合并HYP。对其排便功能与术后小肠结肠炎（EC）的发生情况进行分析比较。结果A组术后发生肠炎有8例（11．4%），B组发生肠炎有11例（40．7％），两组相比较差异有统计学意义（P〈0．005）。按照李正的评分系统，A组排便功能评分为优者比率为85．7％，明显高于B组的62．9％（P〈0．05）。A组便秘复发率为2．9％（2／70），B组为14．8％（4／27），但两者之间差异无统计学意义（P〉0．05）。结论HD合并HYP患儿术后较HD更易发生小肠结肠炎，完全切除HYP肠管可降低EC的发生率，减轻肠炎发生的程度。     

Concurrent Hirschsprung’s disease and anorectal malformation: a systematic review

Hirschsprung’s disease (HSCR) and anorectal malformation (ARM) are often associated with other congenital malformations, but the association of each other is rare. Some studies have reported the incidence of HSCR associated with ARM ranging from 2.0 to 3.4%. The purpose of this study was to update the current epidemiological and therapeutic features of this rare congenital association. A systematic literature search for relevant articles was performed in four databases using a combination of the following terms “association of Hirschsprung’s disease and anorectal malformation”, “aganglionosis and anorectal malformation” and “congenital megacolon and anorectal malformation” for studies published between 1952 and 2019. Reference lists were screened for additional cases. Forty-three studies met the defined inclusion criteria, reporting a total of 126 patients who were diagnosed with HSCR with ARM. Thirty articles reported 42 single case reports of this association. Twelve articles reported 66 cases of HSCR in case series of 3309 ARM patients, resulting in an incidence of 2% of this association. Associated syndrome was found in 25 cases (20%): Currarino syndrome in 11, Down syndrome in 8, Cat eye syndrome in 4 and Pallister–Hall syndrome in 2 patients. Extent of aganglionosis was reported in 62 cases: short or rectosigmoid aganglionosis was reported in 44, long segment aganglionosis in 8, total colonic aganglionosis in 9 and total intestinal aganglionosis in 1 case. Although the association of ARM and HSCR is rare, the incidence of HSCR among ARM cases seems to be higher than in the general pediatric population. There was a high incidence of coexistence of ARM and HSCR with severe associated syndromes.     

肛门直肠畸形合并先天性巨结肠3例及文献复习

目的 先天性肛门直肠畸形合并先天性巨结肠临床上罕见,常易漏诊.本文对先天性肛门直肠畸形合并先天性巨结肠患者的临床特点 、诊疗及预后进行总结,以期提高对此类疾病的认识.方法 2003年9月至2019年10月,上海交通大学医学院附属新华医院共收治3例肛门直肠畸形合并巨结肠男性患者,均为无肛直肠会阴瘘;检索万方、维普、中国知...     

Nutritional management of cow's milk allergy in children: An update

Cow's milk is one of the most common foods responsible for allergic reactions in children. Cow's milk allergy (CMA) involves immunoglobulin E (IgE)- and non-IgE-mediated reactions, the latter being both variable and nonspecific. Guidelines thus emphasize the need for physicians to recognize the specific syndromes of CMA and to respect strict diagnostic modalities. Whatever the clinical pattern of CMA, the mainstay of treatment is the elimination from the diet of cow's milk proteins. The challenge is that both the disease and the elimination diet may result in insufficient height and weight gain and bone mineralization. If, during CMA, the mother is not able or willing to breastfeed, the child must be fed a formula adapted to CMA dietary management, during infancy and later, if the disease persists. This type of formula must be adequate in terms of allergic efficacy and nutritional safety. In older children, when CMA persists, the use of cow's milk baked or heated at a sufficient temperature, frequently tolerated by children with CMA, may help alleviate the stringency of the elimination diet. Guidance on the implementation of the elimination diet by qualified healthcare professionals is always necessary. This guidance should also include advice to ensure adequate bone growth, especially relating to calcium intake. Specific attention should be given to children presenting with several risk factors for weak bone mineral density, i.e., multiple food allergies, vitamin D deficiency, poor sun exposure, steroid use, or severe eczema. When CMA is outgrown, a prolonged elimination diet may negatively impact the quality of the diet over the long term.     

A case report: Paediatric surfer's myelopathy

Surfer's myelopathy was first described by Thompson et al., in 2004.¹ It is a rare cause of sudden spinal cord injury that occurs in the absence of direct trauma to the spinal area in novice healthy surfers. We present the case of the youngest patient we are aware of to be diagnosed with surfer's myelopathy following actual surfing. A clear aetiology for surfer's myelopathy has not previous been described. However, the hypothesis that there is ischaemia to the lower spinal cord is supported by our case, where we present the first clear angiographic evidence of the occlusion of the great anterior radicular artery of Adamkiewicz in a patient diagnosed with surfer's myelopathy.     

经肛门改良Soave术和经腹手术治疗先天性巨结肠疗效比较

目的探讨经肛门改良Soave术和经腹手术治疗先天性巨结肠的临床疗效。方法2001～2007年作者收治年龄〉3岁的先天性巨结肠患儿41例,其中28例采取经肛门改良Soave术,24例经腹手术,分析两组患儿术后并发症以及排便功能。结果两组并发症的发生率比较,经肛门改良Soave术明显少于经腹手术,先天性巨结肠相关性肠炎（Himchsprung’s associatedentero colitis,HAEC）的发生率低于经腹手术,差异有统计学意义。两组排便控制能力以及大便形态方面比较,经肛门改良Soave术优于经腹手术。结论经肛门改良Soave术治疗先天性巨结肠安全可行,疗效优于经腹手术,但术后仍有诸多并发症,特别在排便控制方面,需要大宗病例长期随访的研究来评估。     

克罗恩病合并多发性大动脉炎1例报告并文献复习

目的提高对儿童克罗恩病(CD)合并多发性大动脉炎(TA)的认识。方法回顾分析1例CD合并TA患儿的临床资料,并复习相关文献。结果 10岁女孩,经肠镜诊断CD,接受英夫利昔单抗(IFX)治疗并随访。3年后患儿于临床缓解时出现头晕、晕厥,经血管影像学诊断为TA。停用IFX,换用糖皮质激素及吗替麦考酚酯治疗,患儿CD及TA均缓解。文献复习发现CD合并TA好发于年轻女性,以CD首发多见。CD合并TA临床表现多样,以全身非特异症状及消化道症状最常见。儿童TA临床表现更不典型,合并CD时易漏诊或误诊。四肢血压、脉搏以及血管杂音检测对TA有提示作用。一旦怀疑TA,应及早完善血管影像学检查诊断。多数CD合并TA患者接受美沙拉嗪、糖皮质激素和免疫抑制剂联合治疗,部分接受生物制剂治疗,超过1/3的患者接受手术治疗。结论 CD合并TA少见。当CD患者炎症指标与临床治疗效果存在差异时,应警惕是否合并其他疾病。     

Exogenous lipoid pneumonia in children: A systematic review

ObjectivesTo describe the clinical-radiological-pathological characteristics and treatment outcomes of children with suspected exogenous lipoid pneumonia (ELP).DesignSystematic review. We searched electronic databases and reference lists published between 1967 and 2018, restricted to non-accidental cases.ResultsForty-four studies including 489 participants aged 1 day to 17 years from 13 countries were included. Cultural, medical, and behavioural rationale for oil-use was described. The clinical-radiological presentation varied widely. Diagnostic certainty was deemed highest if ELP was confirmed on bronchoalveolar lavage/frozen section lung biopsy with documented extracellular lipid on cytological staining and/or fat analysis. Non-tuberculous mycobacteria infection was identified in six studies: Mycobacterium fortuitum/chelonei, Mycobacterium smegmatis and Mycobacterium abscessus. Treatment comprised supportive therapy, corticosteroids, stopping oil, therapeutic lung-lavage and surgical resection. Outcomes were reported inconsistently.ConclusionPaediatric ELP resulting from cultural and medical practices continues to be described globally. Preventive interventions, standardized reporting, and treatment efficacy studies for cases not averted, are lacking.Protocol registration: PROSPERO CRD42017068313.     

Massive paediatric pulmonary haemorrhage in Dieulafoy’s disease: Roles of CT angiography,embolisation and bronchoscopy

Acute, major pulmonary haemorrhage in children, is rare, may be life-threatening and at times presents atypically. Dieulafoy’s disease of the bronchus presenting with recurrent or massive hemoptysis was first described in adults. Prior to reviewing the literature, we report an illustrative case of bronchial Dieulafoy’s disease (BDD) in a child presenting unusually with massive apparent hematemesis. The source of bleeding is a bronchial artery that fails to taper as it terminates within the bronchial submucosa. A high index of suspicion is required to identify such lesions via radiological imaging and the role of bronchial artery embolisation is highlighted with video images of angiography included.     

Down’s syndrome associated with absent patellae: A case report

An 8 yr old female child with clinical features of Down’s syndrome had a rare skeletal abnormality. Radiographic studies revealed absence of patellae in the left knee. Her karyotype was 47, XX, +21. Absence of patellae in the proband could be a rare exception rather than a characteristic feature in Down’s syndrome.     

Pediatric abdominal non-Hodgkin's lymphoma: diagnosis through surgical and non-surgical procedures

Objective

To describe the success rate and the complications after procedures to diagnose abdominal non-Hodgkin's lymphoma in children and adolescents.

Hyperimmunoglobulin‐E syndrome with recurrent infection: A review of current opinion and treatment

Hyperimmunoglobulin E (hyper‐IgE) syndrome with recurrent infection is a rare idiopathic primary immunodeficiency. It consists of a severe dermatitis with recurrent abscess formation, respiratory tract infections and very high titres of serum immunoglobulin E (IgE). Hyper‐IgE syndrome is also associated with skeletal abnormalities. Variability of presentation makes it easy to confuse the diagnosis with that of severe atopy or other rare immunodeficiencies. The aim of this article is to review the literature in order to consider the clinical findings, etiology and treatment of this syndrome.     

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??Objective??To improve the level of diagnosis and treatment of children with Kimura’s disease complicated with nephrotic syndrome. Methods??In order to understand the current pathogenesis??diagnosis and treatment of children with Kimura’s disease complicated with nephrotic syndrome??we reviewed 3 cases of Kimura’s disease in our department from 2011 to 2015??and studied the related literature at home and abroad at the same time. Results??Kimura’s disease is a rare chronic immune inflammatory disease which mainly damaged lymph nodes??soft tissue and salivary glands. It mostly occurs in Asian people between the age of 28 and 32??especially male. At present??the cause of the disease and its pathogenesis is still unclear. Histopathology is the only way to diagnose Kimura’s disease. As the golden standard of kidney disease diagnosis??renal biopsy is a big help for the diagnosis and treatment of renal damage of Kimura’s disease. Current treatments mainly depend on medication??and generally hormone combined immune inhibitors are used. Conclusion??Kimura’s disease is a chronic disease??which is a benign lesion but easy to recur. There usually is no malignant change.     

Cartilage‐hair hypoplasia associated with isolated hypoganglionosis: A case report

Cartilage‐hair hypoplasia is a rare metaphyseal chondrodysplasia characterized by diverse clinical manifestations and a high incidence of Hirschsprung disease. We present a male patient with cartilage‐hair hypoplasia associated with severe intestinal obstruction. Genetic analysis of ribonuclease mitochondrial RNA‐processing complex gene identified compound heterozygous mutations consisted with previously reported mutations: n.‐14_3dupGAAGCTGAGGACGTGGT and n.183G > T. First, we considered that intestinal obstruction was due to an extensive type of Hirschsprung disease, but it was later confirmed as isolated hypoganglionosis. Isolated hypoganglionosis is rare and its therapeutic strategies are not well established. In cases of cartilage‐hair hypoplasia associated with severe intestinal obstruction, the differential diagnosis of not only Hirschsprung disease, but also isolated hypoganglionosis, should be considered.     

One Child's Food Fight: A Case Study of Oral Immunotherapy Treatment for Food Allergies

The prevalence of food allergy has risen dramatically in the last two decades. Primary care providers encounter food-allergic children on a daily basis. Although the standard of care has traditionally been strict avoidance of the allergen and advisement to carry an epinephrine autoinjector in case of an accidental exposure resulting in a severe reaction, food allergy research has progressed in the past decade concerning various immunotherapies that may provide an alternate treatment strategy. Oral immunotherapy (OIT), performed under the supervision of an allergist, is the most widely studied of these therapies. In the past, OIT has been available in the realm of clinical trials, but it is now being offered by a small but increasing number of allergists in private practice throughout the United States. Pediatric primary care clinicians should be aware of both the risks and possible benefits of this treatment, because they are likely to encounter patients who may inquire about OIT in their practices. In this case report, use of OIT will be reviewed in the treatment of a food-allergic child.