Macrophage activation syndrome as the presenting manifestation of rheumatic diseases in childhood

We describe 3 patients who presented with features of macrophage activation syndrome (MAS) at the time of presentation of systemic lupus erythematosus (SLE), systemic juvenile idiopathic arthritis, and Kawasaki disease. Immunohistochemical studies in the patient with SLE demonstrated extensive expression of CD163 on hemophagocytic macrophages, suggesting a possible role as a marker of MAS.     

系统性红斑狼疮合并自身免疫性溶血性贫血

系统性红斑狼疮常合并贫血,其中自身免疫性溶血性贫血较多见,且部分病例以自身免疫性溶血性贫血为其首发症状,文章重点介绍了系统性红斑狼疮合并自身免疫性溶血性贫血的发病机制、临床、实验室检查及治疗。     

儿童风湿性疾病合并巨噬细胞活化综合征六例临床分析

目的巨噬细胞活化综合征（MAS）的诊断和治疗尚未得到统一,总结分析我院6例MAS患儿的临床资料,为临床救治工作提供参考。方法回顾性分析我院1998-2004年风湿性疾病合并MAS患儿的临床资料。结果共有6例（女4例,男2例）患儿符合MAS的诊断条件。发生MAS前,4例诊断幼年特发性关节炎全身型（SOJIA）,2例诊断系统性红斑狼疮和狼疮性肾炎。所有病例确诊MAS时疾病状态处于低活动期,主要的临床特征是：峰形热（5／6）或中高热（1／6）,肝脾肿大（6／6）,淋巴结病（6／6）,外周血3系减少（6／6）,明显的肝损伤（6／6）,弥漫性血管内凝血象（2／6）和中枢神经系统功能障碍（3／6）。低纤维蛋白原血症、肝酶升高和高甘油三酯血症均持续存在。3例骨髓涂片可见吞噬血细胞现象和浆细胞岛,其他3例未行此检查。3例患儿被证实存在感染,2例单纯疱疹病毒（HSV）和1例甲型肝炎病毒（HAV）。未发现药物相关因素。分别进行个体化治疗,重点在早期发现和联合抗病毒治疗,适度地联合免疫化疗（HLH-94或环孢素A）可以获得及时的缓解。1例SOJIA患儿严重肝损伤经连续性血液滤过／肾脏替代治疗联合免疫化疗获得迅速缓解。2例SOJIA患儿死于严重的内脏出血。结论MAS不仅见于SOJIA,还可以发生在儿科其他风湿性疾病的任何阶段,其发生率可能要高于以往的认识。感染可能是主要的触发因素。适时的免疫净化联合免疫化疗有益于严重肝损伤的恢复。     

Acute chorea revealing lupus erythematosus disseminatus

A case of systemic lupus erythematosus (SLE) is reported in a 12 year-old girl who presented with chorea. This rare manifestation of SLE was previously recorded as a mode of presentation in half of the 51 reported cases. In view of the relative rarity of rheumatic fever in economically advanced countries, SLE should be entertained as a manifestation of chorea. The possible pathophysiologic mechanisms of this central nervous system involvement are discussed.     

Presentation of systemic lupus erythematosus in emergency department

Systemic lupus erythematosus (SLE) is a multisystem inflammatory disease that is often difficult to diagnose in the emergency department. It is an autoimmune disease with great variability in presentation and course. Moreover, the atypical or incomplete presentation is common in children and can result in delay in diagnosis. Consideration of the possibility of SLE is important when evaluating a patient with symptoms and/or signs suggesting multisystem disease. The emergency physician must maintain a high degree of suspicion for the early diagnosis and management of this important condition. We present 3 children who presented to emergency department with different initial manifestations of SLE.     

Peripheral neuropathy--a rare complication of paediatric systemic lupus erythematosus.

Peripheral neuropathy is an uncommon complication in paediatric systemic lupus erythematosus (SLE). We report the case of a 10-year-old Chinese girl who developed peripheral neuropathy within 3 months of the onset of SLE and presented with bilateral foot drop and sensory symptoms of both hands and feet. There was no involvement of the central nervous system at the time of presentation. The patient was negative for anticardiolipin antibodies, but positive for lupus anticoagulant. She was treated with intravenous methylprednisolone followed by oral steroids, methotrexate, gabapentin and amitryptyline. Although peripheral neuropathy is a rare complication of paediatric systemic lupus erythematosus, one should be vigilant for this entity as part of the neurological spectrum. It may not be associated with involvement of the central nervous system. Antiphospholipid antibodies may have role in the pathogenesis of SLE associated peripheral neuropathy. We speculate that routine nerve conduction studies may have a role in detecting sub-clinical cases.     

Systemic lupus erythematosus in children

Pediatric systemic lupus erythematosus (pSLE) is a chronic mutisystemic autoimmune disease with complex clinical manifestations. Although the presentation, clinical manifestations, immunological findings and treatment issues of pSLE are similar to those of adult SLE patients, there are special issues which need to be considered when dealing with SLE in children. During the last decade survival has improved remarkably as a result of earlier diagnosis, recognition of milder disease and better approaches to therapy. However, pSLE remains a potentially serious condition. Although the pathogenesis of SLE remains poorly understood, susceptibility involves a combination of environmental, hormonal and genetic factors. Better understanding of SLE pathogenesis will hopefully lead to more specific and less toxic therapies for this disease.     

Chronic urticaria associated with aseptic meningitis: An atypical urticarial vasculitis?

The patient was a 7-year-old girl with early onset urticarial cutaneous lesions and was later complicated with aseptic meningitis. Her skin lesions occurred in the infantile period and were diagnosed as urticaria, but did not disappear with antihistamines and were recurrent and persistent. In addition, she had experienced an episode of headache about once a month since 1991, when she was 4 years old, and was diagnosed as aseptic meningitis. All studies including skin biopsy for urticarial vasculitis (UV) and systemic lupus erythematosus (SLE) were negative except for the data from non-specific inflammations. A systemic corticosteroid therapy dramatically reduced her symptoms. An unusual clinical course for this patient is described. It might suggest that this case is a presentation of the disease entity of UV, chronic urticaria and possibly SLE. To our knowledge, a similar case has not been previously reported.     

Ischemic necrosis of femoral condyles in systemic lupus erythematosus

Avascular necrosis (AN) of bone is a complication of systemic lupus erythematosus (SLE). In the present paper we describe two patients with SLE who presented an AN of femoral condyles 18 months and 2 years respectively after the diagnosis of the disease. In the second case, together with the destructive change of the symptomatic knee, X-ray films showed an initial involvement, still asymptomatic, of the contralateral knee.     

Initial presentation of childhood-onset systemic lupus erythematosus: a French multicenter study

OBJECTIVE: To describe the clinical and laboratory manifestations of childhood-onset systemic lupus erythematosus (SLE) at presentation. STUDY DESIGN: This retrospective French multicenter study involved 155 patients in whom SLE developed before the age of 16 years. Mean patient age at onset was 11.5 +/- 2.5 years (range, 1.5-16 years). The female to male ratio was 4.5. RESULTS: The most common initial manifestations were hematologic (72%), cutaneous (70%), musculoskeletal (64%), renal (50%), and fever (58%). Thirty-two percent of children had atypical symptoms, mainly including abdominal involvement in 26 patients, which lead to negative laparotomy results for presumed appendicitis. Severe renal, neurologic, hematologic, abdominal, cardiac, pulmonary, thrombotic, and/or cutaneous manifestations occurred within the first month after the diagnosis in 40% of patients. The mean erythrocyte sedimentation rate was 72 +/- 29 mm/h, and the mean C-reactive protein value 22 +/- 21 mg/L. Antinuclear antibodies an, anti-double stranded DNA antibodies, and low C3 or C4 level were retrieved in 97%, 93%, and 78 % of patients, respectively. CONCLUSION: Initial manifestations of childhood-onset SLE are diverse and often severe. The diagnosis of SLE should be promptly considered in any febrile adolescent with unexplained organ involvement, especially when associated with an increased erythrocyte sedimentation rate.     

Psychiatric manifestations of systemic lupus erythematosus in children and adolescents. A review

The purpose of this article is to review the psychiatric conditions associated with systemic lupus erythematosus (SLE) in children and adolescents. Emphasis is placed on clinical presentation and the differential diagnosis between organic psychiatric disorder, toxic psychiatric disorder, and functional psychological symptoms.     

Chorea as an initial manifestation of systemic lupus erythematosus. A case report of a 10-year-old girl

Neurological complications of systemic lupus erythematosus (SLE) are relatively common, but isolated chorea as the initial manifestation of SLE is very rare. We report a 10-year-old girl presenting with chorea, who developed clinical and laboratory findings of SLE 10 months after the onset of chorea. In this case, mild depression of complement levels in serum, which had already been found in the early stage of the chorea, was the only abnormal laboratory datum. The low serum complement levels that precede the appearance of other clinical and laboratory findings may be helpful for the diagnosis of isolated chorea involvement in SLE.     

Hepatitis as the presenting symptom of childhood systemic lupus erythematosus

We report in this article a girl with an initial diagnosis of autoimmune hepatitis who developed full-blown systemic lupus erythematosus (SLE) at her two-years follow-up. She was formerly considered as HBV-related chronic active hepatitis but due to the persistence of elevated liver enzymes, the reversal of the albumin and globulin ratio and abnormal HBV serology, she was later diagnosed as autoimmune hepatitis. With the clinical findings of arthritis, arthralgia and malar rash and supported by results of laboratory tests, she was diagnosed as a case of unusual SLE presenting with autoimmune hepatitis. We conclude, therefore, that each patient with a diagnosis of autoimmune hepatitis in childhood who exhibits abnormal HBV serology must be evaluated for a possible diagnosis of SLE.     

儿童风湿病相关巨噬细胞活化综合征单中心临床研究

目的 总结儿童风湿病相关巨噬细胞活化综合征(MAS)临床和实验室特征、治疗及转归.方法 回顾性分析2008年1月至2019年11月重庆医科大学附属儿童医院75例MAS患儿的临床和实验室特征、治疗及转归.结果 MAS的基础疾病包括全身型幼年特发性关节炎(SJIA) 32例、系统性红斑狼疮(SLE) 22例、川崎病(KD)...     

Meconium aspiration syndrome (MAS) — Where do we go? Research perspectives

The pathogenetic cascade of meconium aspiration syndrome (MAS) in newborn infants is complex and still incompletely studied. The variable clinical presentation of MAS is basically connected with variation of the amount and consistency of aspirated meconium and also its distribution within the affected lungs. The contributing role of other factors, like intrauterine fetal compromises, lung maturity at the time of insult as well as direct and indirect effects of meconium and its components on the lung alveolar and vascular integrity and development, remains to be studied in further detail. Better understanding of the lung injury processes in MAS, specifically inflammatory injury and non-inflammatory apoptosis and their interplay, may offer new possibilities to treat the severely affected infants, and needs therefore to be explored. Systemic dispersion of intrapulmonary meconium and its components may further induce inflammatory circulatory changes and injurious effects in distant organs, but the mechanisms and clinical significance of these systemic complications are still poorly known. It is thus evident that lung injury processes and potent long-term consequences in various extrapulmonary organs, specifically the brain, as well as development of new approaches to their treatment and prevention form great challenges for future research of MAS.     

Phenotypic testicular abnormalities and pubertal development in boys with McCune-Albright syndrome

Aim of this survey is to review the few available literature data on pathophysiologic and clinical aspects of pubertal development in boys with McCune-Albright syndrome (MAS). On the basis of such analysis, we concluded that:1) peripheral precocious puberty (PPP) is significantly more infrequent in boys than in girls; 2) the most common testicular abnormality at MAS presentation is macroorchidism, that may be either monolateral or bilateral; 3) macroorchidism is not always associated with clinical and biochemical evidence of PPP; 4) testicular microlothiasis is distinctly more frequent in boys with MAS than in those without MAS; 5) the available therapeutic schedules have to be adopted already at MAS presentation only in the cases with PPP.     

Acute Coronary Syndrome as a First Presentation of Systemic Lupus Erythematosus in a Teenager: Revascularization by Hybrid Coronary Artery Bypass Graft Surgery and Percutaneous Coronary Intervention: Case Report

Patients with systemic lupus erythematosus (SLE) may present with acute coronary syndrome (ACS) due to coronary vasculitis or premature atherosclerosis. There is a paucity of data on invasive management strategies for young adults who present with an ACS secondary to active vasculitis. This article describes the case of a teenager who presented with an ACS secondary to lupus vasculitis as his first presentation of active SLE. Coronary angiography showed a left main equivalent lesion involving a proximal very large left anterior descending artery (LAD) and diagonal stenosis (with a diminutive left circumflex artery). The boy underwent a successful endoscopic coronary bypass surgery to his LAD followed by percutaneous coronary intervention to his diagonal artery. This case demonstrates the feasibility and safety of a hybrid coronary revascularization in a teenager with acute coronary syndrome due to coronary vasculitis.     

Monitoring serum IL-18 levels is useful for treatment of a patient with systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome

Systemic juvenile idiopathic arthritis (sJIA) is a systemic inflammatory disease characterized by arthritis, spiking fever and a skin rash that is frequently complicated by macrophage activation syndrome (MAS), a life-threatening disorder. We report a 22-month-old girl with sJIA who developed severe MAS but was successfully treated with corticosteroids, cyclosporin A, and non-steroidal anti-inflammatory drugs by monitoring serum IL-18 levels. IL-18 is an extremely useful cytokine for monitoring the activity of sJIA and MAS, and serum IL-18 can be used as an indicator for the effectiveness of treatment and the decision to discontinue therapy.     

Systemic lupus erythematosus in Trinidadian children

Thirty-three children with a diagnosis of systemic lupus erythematosus (SLE) were studied. At diagnosis, 29 of them (88%) were aged between 10 and 17 years and the other four (12%) between 5 and 9 years. The majority were girls (28, 82%) and the male:female ratio was 1:6.6. Children of East Indian and mixed racial origin formed the largest groups (37 and 39%, respectively) and mortality was higher in these two groups. The most common symptoms at diagnosis were: fever for > 1 week (75.8%), musculoskeletal symptoms (arthralgia, arthritis and myalgia (69.7%) and renal involvement (63.6%). Malar and discoid rashes were common, 39 and 37%, respectively. Central nervous system involvement at presentation was a rare but important cause of mortality. The mortality rate during follow-up was high at 39.3% and the commonest cause of death was renal failure. Childhood SLE is uncommon in Trinidad and Tobago. Diagnosis is often delayed because of the protean and non-specific manifestations. This study reports a higher prevalence, a more severe course and greater mortality in children of East Indian and mixed descent than in children of African origin. It also shows that the symptomatology at first presentation is consistent with other studies and should be recognised early. Early diagnosis and prompt and appropriate management are essential in order to reduce the high mortality still associated with SLE.     

Auto-immune cholangiopathy in a juvenile patient with systemic lupus erythematosus

Systemic lupus erythematosus (SLE) is a multi-system inflammatory disease characterized by the presence of auto-antibodies. Liver enzyme abnormalities are common but clinical liver dysfunction with jaundice is rare. We report a juvenile female patient with SLE who developed jaundice 9 months after her initial presentation. Further investigations including liver biopsy and magnetic resonance cholangio-pancreatography revealed two likely pathologies for her liver dysfunction; amoxicillin-clavulanic acid induced cholestasis and auto-immune cholangiopathy. The hyperbilirubinaemia resolved spontaneously 3 months after exposure to amoxicillin-clavulanic acid; however, the elevation in Alanine transaminase and Gamma-glutamyl transpeptidase persisted until intensive immunosuppressive therapy achieved complete remission. CONCLUSION: We report a rare case of a juvenile patient with SLE and auto-immune cholangiopathy. The use of cholangio-pancreatography as part of the diagnostic work-up achieved the final diagnosis.