小儿皮肌炎的临床特征

目的探讨皮肌炎（JDM）患儿的临床特点和疗效。方法回顾性分析1990年1月～2004年1月住本院15例小儿JDM的临床特点,对其血清肌酶、肌肉活检的病理改变及患儿对糖皮质激素的疗效和预后资料进行分析。结果JDM患儿均有对称性近端肌无力;最常见皮肤改变是眼镜状红斑和高春征;患儿均有肌酶升高,肌电图示呈肌源性损害;肌肉活检示肌炎改变,8例经激素治疗1个月肌酶恢复正常,2.5个月肌力改善。结论掌握小儿JDM临床特征对诊断有重要意义,早期诊断、合理治疗可改善预后。     

儿童多发性肌炎和皮肌炎临床分析

目的 探讨儿童多发性肌炎(PM)和皮肌炎(DM)的临床特点与治疗.方法 分析1999年4月-2004年6月诊断为PM和DM 6例患儿的临床特点、实验室检查、肌电图和肌肉活检结果,以及糖皮质激素联合免疫抑制剂治疗疗效和预后.结果 PM和DM患儿均有对称件近端肌无力,皮肤改变为双上眼腧水肿性淡紫红色斑和Gottron征,部分患儿累及关节、心脏、肺脏和消化系统;6例患儿均有肌酶升高,肌电图呈肌源性损害,肌肉活检示肌炎改变;泼尼松联合免疫抑制剂治疗后,肌力恢复至Ⅱ～Ⅲ级约为1～3个月.肌力从Ⅲ～Ⅳ级恢复至正常为7～13个月,四肢肌力早于颈部肌力恢复;血清肌酶1～6个月恢复正常,ESR、CRP、肝功能异常治疗后均恢复正常;6例患儿中5例已停止治疗,最长停药时间为4年,肌力正常,无发热、皮疹等情况,1例治疗中出现对称性腕关节、近端指间关节肿痛,活动受限.结论 PM和DM以肌无力和皮肤损害为突出表现,其他系统亦可受累,各脏器功能评估对诊断和判断疾病严重性非常有益;肌电图和肌肉病理检查是确诊PM和DM及与其他原因引起的肌病鉴别的重要依据;糖皮质激素联合免疫抑制剂治疗PM和DM安全有效,儿童PM和DM预后较好.     

幼年皮肌炎的药物治疗进展

幼年皮肌炎(Juvenile Dermatomyositis，JDM)是一种儿童期可累及全身的自身免疫性炎性肌病，主要累及皮肤和近端肌肉，还可以累及重要器官(如：肺、关节及胃肠道等)，常伴有特异性抗体的存在。目前关于JDM的治疗非常困难，一线药物是糖皮质激素和甲氨蝶呤，对于治疗效果不佳的患者，有些二线或三线药物起到一定的支持作用，在难治性患者中，静脉注射免疫球蛋白或环磷酰胺可能是有效的，同时生物制剂和小分子靶向药物也逐渐被应用于临床。而除糖皮质激素外的药物选择往往还需要综合临床症状、血清特异性抗体、病理结果及初步治疗的反应，在治疗过程中不断调整。这篇综述的目的是概述目前用于治疗JDM的药物、治疗效果观察和选择药物的策略，为临床治疗提供思路。     

Fisher综合征2例报告

例1 男,14岁。腹泻后1周突起吞咽呛咳、说话含糊、四肢无力6天入院。体检:神清,言语含糊,两眼闭合及外展差。视乳头边界欠清。右面纹浅,伸舌和软腭上抬亦差。两手意向震颤,轮替差,行走不稳。两上肢近端肌力Ⅳ°,远端肌力Ⅱ°,两下肢肌力Ⅳ°,腱反射消失,无感觉障碍,病理征阴性。CT正常。肌电图:神经原性损害。脑脊液蛋白90mg/dl,     

自体外周血干细胞移植治疗难治性学龄前儿童风湿病

目的探讨自体外周血干细胞移植（auto-PBHSCT）治疗难治性学龄前儿童风湿病的可行性、安全性和有效性。方法幼年皮肌炎（JDM）、幼年系统性红斑狼疮（JSLE）、幼年类风湿关节炎（JRA）各1例,均为男性患儿,年龄分别为3、6,6岁,病程分别为14、3．6、22个月,常规治疗中病情进展,库欣征明显,患病后患儿身高均无增长。JDM患儿肌力Ⅱ级,吞咽肌和呼吸肌受损,明显Gottron’s征和向阳性皮疹;JSLE患儿表现为蝶形红斑、蛋白尿、贫血,脑MRI显示脱髓鞘病变,系统性红斑狼疮疾病活动性指数（SLEDAI）≥12分;JRA患儿双膝、踝、腕、肘严重多关节炎。以环磷酰胺（CTX）＋粒细胞集落刺激因子（G-CSF）进行外周造血干细胞动员,经CliniMACS细胞分选仪分选CD34‘细胞。预处理方案：JSLE和JRA为卡氮芥（BCNU）＋足叶乙甙（VP16）＋阿糖胞苷（Ara-C）＋马法兰（MEL）及抗胸腺球蛋白（ATG）;JDM为CTX＋Mel及ATG。回输CD34^＋细胞数分别为9．45×10^6／kg、5．46×10^6／kg和9．60×10^6／kg。观察移植治疗前后风湿病状态和免疫学指标的变化。结果3例患儿移植后分别于＋9d、＋13d、＋11d粒细胞≥0．5×10^9／L,＋14d、＋18d和＋13d血小板≥20×10^9／L。CIM处于低水平,CD4／CD8倒置。JDM移植后1个月皮疹消失,肌力Ⅴ级,移植后2个月血清肌酶、肌电图恢复正常。JSLE移植后3个月皮疹消退,无蛋白尿,脑MRI病变吸收,移植后8个月自身抗体转阴性,SLEDAI为2～3分。JRA移植后3周关节炎好转,移植后3个月无关节肿胀及活动受限。均停用激素和免疫抑制药物,库欣征消退,18个月身高增长10～15cm,均已上小学或学前班,随访25～27个月无复发。结论auto-PBHSCT治疗难治性学龄前儿童风湿病近期疗效显著,安全性及远期疗效有待进一步观察。     

造血干细胞移植治疗重型β- 地中海贫血合并肢带型肌营养不良1 例报告并文献复习

目的探讨重型β-地中海贫血合并肢带型肌营养不良(LGMD)的造血干细胞移植治疗效果。方法回顾分析1例重型β-地中海贫血(CD17纯合子突变)合并LGMD2E患儿行亲缘性HLA全相合造血干细胞移植的治疗过程。结果患儿,女,3岁5个月,供者为妹妹。移植预处理方案:氟达拉滨、白消安、环磷酰胺及抗人胸腺细胞免疫球蛋白;预防移植物抗宿主病方案:环孢素、吗替麦考酚酯及短程甲氨蝶呤。经静脉输注供者骨髓血406 mL,单个核细胞数11.3×10~8/kg,术后监测患儿血常规、植入证据及激酶水平。造血干细胞移植后,患儿重建造血及免疫功能。植入证据提示完全供者嵌合,嵌合率100%,但血清酶学无明显下降,血清肌酸激酶维持在20 000～25 000 IU/L,四肢肌力逐渐下降,近期双下肢肌力3～4级,双上肢肌力4级,易摔倒。结论异基因造血干细胞移植可以治愈患儿的地中海贫血,但无法改善肌营养不良症状。     

幼年皮肌炎46例临床特征及治疗随访分析

目的研究幼年皮肌炎(JDM)的临床特征、实验室及辅助检查、治疗用药和疗效以及远期预后,使该病能早期诊断及时治疗。方法回顾性分析了2003—2007年北京儿童医院住院JDM患儿46例,分析其临床表现、实验室及影像学检查、治疗用药及远期随访结果和预后。结果46例患儿中女20例,男26例,女比男为1∶1.3;年龄1~14岁,平均年龄7岁。临床表现主要为皮疹及肌无力,93%的患儿有高春征,100%的患儿有颜面部紫红色皮疹,89%的患儿有甲床毛细血管异常;所有的患儿均有不同程度的肌无力,严重者需要呼吸机辅助呼吸。46%的患儿有内脏受累,其中大部分(71%)为2个以上系统受累,最常受累系统为呼吸系统(37%),其次是消化系统(33%)、心血管系统(26%)及神经系统(11%)。实验室检查100%的患儿有肌酶增高,其中CK最具特异性。所有的患儿肌电图均表现为肌源性损害。治疗用药,除应用糖皮质激素外,均在早期加用甲氨蝶呤,有肺损害及重症患儿加用环孢素A。早期治疗效果及远期预后均较好,46例患儿在急性期死亡2例,死因为肺部受累合并感染致呼吸衰竭,远期并发症少见。结论JDM是一类预后相对较好的自身免疫性疾病,关键在于早期诊断和积极治疗,认识JDM的特征性表现有助于早期诊断。     

幼年皮肌炎120例临床特点及治疗随访分析

目的 研究幼年皮肌炎(JDM)的临床特征、治疗效果以及转归.方法 回顾性分析2003年12月-2011年3月在北京儿童医院住院JDM患儿120例,分析其起病情况、临床表现、实验室检查及辅助检查、治疗方法、随访和预后.结果 120例患儿男55例,女65例;发病年龄1～14岁,平均年龄7岁.患儿均有典型的皮损及不同程度的肌肉症状,83例(69%)患儿有内脏受累,最常受累系统为呼吸系统(48%).所有患儿肌酶增高,肌电图均表现为肌源性损害.120例患儿均采用糖皮质激素治疗,均在早期加用甲氨蝶呤,有肺损害及重症患儿加用环孢素或环磷酰胺.早期治疗效果及远期预后均较好,120例在急性期死亡7例,死于肺部受累并感染致呼吸衰竭5例,并巨噬细胞活化综合征2例.结论 JDM是一种少见疾病,以肌无力和皮肤损害为突出表现,其皮损具有特征性,各脏器功能评估对诊断和判断疾病严重性非常有益;糖皮质激素联合免疫抑制剂治疗JDM安全有效,且预后较好.     

脂肪沉积性肌病1例

患儿男 ,12岁。因双下肢酸痛 2个月 ,行走无力 1个月 ,于 1999年 3月入院。患儿说话声音低 ,纳可。既往健康 ,无类似家族史。体检 :Ｔ 36℃ ,Ｐ98/ｍｉｎ ,Ｒ 2 8/ｍｉｎ ,Ｂｐ 16 / 10ｋＰａ ,Ｗ2 6ｋｇ。神志清 ,精神萎靡 ,说话音低无力 ,呼吸平稳 ,全身皮肤无皮疹 ,抬头乏力 ,头颈左右扭转仅 10°～ 2 0°,心率98/ｍｉｎ ,偶闻早搏 ,心音有力 ,双肺未见异常。肝右肋下 4ｃｍ ,质韧 ,表面光滑 ,有明显压痛 ,脾肋下未触及。四肢肌肉明显萎缩 ,双上肢不能上举 ,行走鸭步样 ,四肢近端肌力Ⅱ级 ,远端Ⅲ级 ,双膝腱反射减低 ,双踝反射消失 ,病理…     

腓骨肌萎缩症一家系报告并文献复习

目的探讨腓骨肌萎缩症1A型的临床特点。方法回顾分析腓骨肌萎缩症1A型一家系的临床表现、神经电生理及基因检测结果。结果先证者为12岁男孩,因双下肢乏力就诊。患儿四肢肌张力稍减低,四肢近端肌力Ⅴ级,远端肌力Ⅳ级,双下肢膝关节以下及双上肢远端肌肉对称性萎缩,四肢末端感觉稍减退,膝反射、踝反射消失,双足高弓足,病理征阴性,共济运动未见异常。肌电图示神经传导速度减慢。基因检测发现患儿PMP22基因外显子1-5杂合重复。患儿母亲携带同样的基因变异,肌电图示神经传导速度减慢。追溯其家系四代16位成员,共6例患者,均正常存活且有高弓足、小腿肌萎缩和肢体无力表现,1例需依靠轮椅行走,1例行基因验证有同样变异。患儿行康复治疗后随访,症状改善不明显。结论腓骨肌萎缩症1A型是常染色体显性遗传病,临床表现为肢体远端为主的进行性肌无力、肌肉萎缩、腱反射减弱或消失、足部畸形、感觉功能减退;肌电图神经传导速度慢,基因检测有助诊断。     

幼年型皮肌炎特异性抗体研究进展

幼年型皮肌炎（juvenile dermatomyositis，JDM）是以近端肌无力和皮疹为主要临床表现的自身免疫疾病，亦可累及多系统、多脏器。肌炎特异性抗体（myositis-specific autoantibodies，MSA）与JDM患者的并发症及预后高度相关。抗Mi-2抗体阳性患者预后较好，临床症状典型；抗MDA5抗体阳性患者多伴发弥漫性间质性肺疾病及皮肤溃疡，肌炎症状轻；抗NXP2抗体阳性患者易合并钙质沉着，该抗体与胃肠出血及穿孔相关；抗TIF1-γ抗体阳性患者有弥漫、顽固的皮损表现；抗SAE抗体在儿童中检出率较低，相关报道较少。该文综述了5种MSA亚型JDM患者的临床表型特点，为JDM患儿的临床治疗和随访管理提供依据。     

儿童型肌炎/皮肌炎临床和病理研究

目的　儿童型多发性肌炎 /皮肌炎 (JPM /DM)目前在国内外文献中的大宗病例报道不多。为深入探讨两病的特征 ,本文着重研究其临床及病理特点 ,以进一步认识两病。方法　回顾性分析 4 2例JPM/DM (2 4例JPM ,1 8例JDM )患儿的临床资料 ,总结其临床表现、血清肌酶学、肌电图、肌肉病理的特点。结果　该病临床上主要有肌无力、肌萎缩 ,CK等血清肌酶增高 ,肌电图主要呈肌源性损害。JDM大多还有典型的皮肤损害 ,部分病例可出现皮下钙质沉积。JPM/DM的肌肉病理均显示免疫炎性改变。JPM组肌内膜炎发生率较JDM组高 (70 .8%vs 38.9% ,P <0 .0 5 ) ,JDM组肌束周萎缩及血管病变的发生率较JPM组高 (72 .2 %vs 4 1 .7% ,94 .4 %vs 5 4 .2 % ,P <0 .0 5或 0 .0 1 )。结论　JPM和JDM的临床和病理有所不同 ,JPM的病理改变可表现为散在肌纤维变性坏死、肌内膜炎改变为主的特征 ,部分病例微血管病变较明显 ;而JDM组的典型病理为广泛微血管病变和肌束周萎缩     

Long-term follow-up of autologous hematopoietic stem cell transplantation for refractory juvenile dermatomyositis: a case-series study

Objective

To follow up the refractory juvenile dermatomyositis (JDM) with autologous hematopoietic stem cell transplantation (AHSCT) in a long time and to investigate whether AHSCT is effective and safe to treat refractory JDM.

Methods

We collected the AHSCT and follow-up data of three patients with refractory JDM who received autologous peripheral blood CD34+ cell transplantation in our hospital between June 2004 and July 2015. Those data include: hight, weight, routine blood and urine tests, ESR, CK, ALT, AST, LDH, renal functional tests, lymphocyte subpopulations, HRCT and muscle MRI. The last follow-up was done in June 2017.

Results

All three patients had complete remission and could stop prednisone after 3–12 months. None of them relapsed at 144, 113 and 23 months follow-up. Twelve months after their AHSCT, all of their monitoring indexes have returned to normal and they have stopped all medications. Until the date of this article, none of them relapsed or need medicine.

Conclusion

Our study suggests that AHSCT is safe and effective in treating refractory JDM, and it can provides long term drug-free survival. However, more cases are needed for further confirmation.

     

Use of low-dose selective serotonin reuptake inhibitors for severe, refractory choking phobia in childhood

Difficulty swallowing solids and/or liquids accompanied by intense anxiety that results in restricted eating patterns or complete avoidance of eating may not have an easily identified underlying medical cause. This type of "eating disorder," which has also been described as "choking phobia," may occur in the absence of body image distortion, fear of becoming fat, or the desire to be thinner. The primary complaint in these children may be physical discomfort accompanied by high anxiety. Negative consequences can be severe and include social withdrawal, family distress, and deleterious effects on the child's physical health. Prompt recognition in the pediatric setting is, therefore, critical to avoid escalation of symptoms and treatment delays. Three pediatric cases of severe choking phobia refractory to prior intervention are presented in which rapid and sustained improvement followed low-dose therapy with a selective serotonin reuptake inhibitor (SSRI). Possible predictors of response to low-dose SSRI treatment in children with choking phobia and future avenues for investigation are explored.     

Characteristics of juvenile dermatomyositis in Japan

Questionnaires were sent to 1290 hospitals in Japan asking for data on patients with juvenile dermatomyositis (JDM) diagnosed between June 1984 and May 1994. Of the 204 patients identified by these questionnaires, 102 met the criteria for JDM. JDM is categorized into three subtypes: Banker-type JDM , Brunsting-type and fulminant-type; patients with the latter exhibit markedly elevated serum levels of creatinine phosphokinase (> 10 000 U/mL) and appear to be at risk of renal failure. Cutaneous manifestations were present in 98% of patients and preceded the appearance of other symptoms. This tendency is one of the reasons for the difficulty in some cases in diagnosing the onset of JDM. Better criteria for early treatment of JDM are needed. The results of the present study suggest that itching and calcinosis are factors that indicate a poor prognosis in patients with JDM. Muscle enzyme levels do not always reflect disease activity, suggesting that methods other than measurement of muscle enzymes, such as measurement of the levels of neoprerin and von Willebrand factor antigen, as well as magnetic resonance imaging should be used to be evaluate disease severity. Patients with Brunsting-type JDM who exhibit dysphagia and antinuclear antibody positivity and patients with Banker-type JDM should be treated aggressively. Pulse therapy should be selected as the initial therapy in patients with fulminant-type JDM.     

Anasarca: not a nephrotic syndrome but dermatomyositis

Juvenile dermatomyositis (JDM) is a rare autoimmune disease characterized by inflammation of the muscle, connective tissue, skin, gastrointestinal tract, and small nerves. Periorbital and facial edema may also be associated. Although localized edema is a common feature of JDM, generalized edema has rarely been reported. Here, we report a 3.5-year-old boy with JDM presenting with generalized edema. The diagnostic criteria of JDM rely on typical clinical manifestations that include: severe symmetric weakness of the proximal musculature, characteristic cutaneous changes, elevated serum skeletal muscle enzymes, and myopathic electromyographic pattern. Our patient initially received methylprednisolone and intravenous immunoglobulin (IVIG) without significant improvement, so he was given azathioprine and a prolonged course of oral prednisolone. We conclude that JDM should be suspected in patients presenting with anasarca in the absence of laboratory parameters of other causes of generalized edema and an appearance of heliotrope rash with muscle weakness. Also, we suggest that muscle magnetic resonance imaging (MRI) should be considered among the diagnostic tools of JDM.     

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??The juvenile idiopathic inflammatory myopathies??JIIM?? are systemic autoimmune diseases characterized by skeletal muscle weakness and characteristic rashes. Of which??juvenile dermatomyositis??JDM????juvenile polymyositis??JPM?? and juvenile myositis overlapping with another autoimmune or mixed connective tissue disease??JCTM?? is common clinical subgroups.To date??there is no detailed information for the aetiology of JIIM. However??the association with immune system is currently considered. Moreover??detecting the myositis-associated antibodies and myositis specific antibodies is of great help for the diagnosis and differential diagnosis of JIIM.     

Duration of illness is an important variable for untreated children with juvenile dermatomyositis

OBJECTIVE: To evaluate the impact of duration of untreated symptoms in children with juvenile dermatomyositis (JDM) on clinical and laboratory status at diagnosis. STUDY DESIGN: We examined physical and laboratory data from the first physician visit for 166 untreated children with JDM. Disease activity scores (DASs) assessed skin and muscle involvement. Height and weight were compared with the National Health and Nutrition Examination Survey III dataset. Duration of untreated illness was designated as the time from first sign of rash or weakness to diagnostic visit. RESULTS: Boys and girls with untreated JDM were shorter and lighter than national norms (P > .0005 for both), and nonwhite children were weaker than white children (P > .0005). Older children had more dysphagia (P = .017) and arthritis (P > .001). Duration of untreated JDM was negatively associated with DAS weakness (P > .0005), unrelated to DAS skin, and positively associated with pathological calcifications (P = .006). With untreated disease > or = 4.7 months, serum levels of 4 muscle enzymes (aldolase, lactic dehydrogenase, creatine kinase, serum glutamic-oxaloacetic transaminase/aspartate aminotransferase) tended toward normal (P > .01 for each). CONCLUSIONS: Duration of untreated symptoms is an important variable and should be included in decisions concerning both diagnostic criteria and intensity of therapy for children with JDM.     

乳酸脱氢酶在儿童难治性肺炎支原体肺炎诊断和治疗中的意义

目的 探讨乳酸脱氢酶(lactic dehydrogenase,LDH)在儿童难治性肺炎支原体肺炎(refractory Mycoplasma pneumoniae pneumonia,RMPP)诊断和治疗中的意义.方法 对2013年6月至2016年6月南方医科大学附属深圳妇幼保健院儿科收治的肺炎支原体肺炎(Mycoplasma pneumoniae pneumonia,MPP)患儿,均给予红霉素治疗.根据RMPP的定义,将其分为普通MPP组和RMPP组.RMPP组采用红霉素基础上添加甲泼尼龙治疗.根据疗效,将RMPP患儿分为有效组和无效组.所有患儿均检测血LDH、WBC计数、C-反应蛋白、红细胞沉降率(erythrocyte sedimentation rate,ESR)、丙氨酸氨基转移酶(ALT)、天门冬氨酸氨基转移酶(AST)及肌酸激酶(CK).分别比较RMPP组和普通MPP组、有效组和无效组之间在治疗前后上述指标有无差异.结果 共纳入253例受试者,其中普通MPP组161例,RMPP组92例.与普通MPP组相比,RMPP组患儿年龄更大,LDH、ESR、ALT、AST水平更高(P＜0.05).Logistic回归分析显示,LDH(OR=1.029,95%CI 1.020~1.037)、ESR(OR=1.063,95%CI 1.009~1.120)为RMPP的预测因素(P＜0.05).受试者工作特征曲线表明,LDH临界值为400.50U/L时,曲线下面积最大为0.959,95%CI 0.936~0.983.RMPP组添加甲泼尼龙治疗后,患儿临床症状迅速改善,有效组LDH、ESR水平显著降低(P＜0.05).结论 血清LDH可能为早期识别RMPP和判断疗效的一个重要指标.