单独肺受累的儿童肺郎格罕细胞组织细胞增生症一例报道并文献分析

目的 了解单独肺受累的儿童肺郎格罕细胞组织细胞增多症(PLCH)的临床和实验室特点.方法 回顾性分析南京儿童医院确诊的1例单独肺受累的PLCH的临床资料,并结合文献报道的11例单独肺受累的PLCH进行分析.结果 本组患儿为2岁11个月男童,病程仅1个月,临床表现为咳嗽、活动后气短,胸部CT显示双肺弥漫分布点状、结节状、网状及条索状高密度影.开胸肺活检免疫组化提示病变组织表达S-100散在(+),CD1α,CD68灶性(+),无其他器官系统病变,经泼尼松、VP16、长春地辛化疗后临床症状基本消失,胸部CT病变明显好转.文献报道的11例中起病症状为咳嗽、呼吸困难者10例;胸部CT(8例)表现分别显示间质性病变(5例)、囊样病变(5例)、结节样影(2例)、气胸(2例);9例肺活检病变组织找到郎格罕细胞浸润,部分行免疫组化提示表达CD1α,另2例肺泡灌洗液细胞免疫组化提示表达CD1α及S-100.结论 儿童单独肺受累PLCH临床上以咳嗽、呼吸困难为主要表现,影像学上常见间质性病变、小结节影或囊样病变.肺活检组织常可见郎格罕细胞浸润,病变组织及肺泡灌洗液细胞的免疫组化表达CD1α.     

Gastrointestinal tract involvement in Langerhans cell histiocytosis: case report and literature review

Digestive tract involvement in Langerhans cell histiocytosis is exceedingly rare. We report a case of Langerhans cell histiocytosis in an otherwise thriving neonate presenting with hematochezia, anemia, and rash. We also review the few cases of Langerhans cell histiocytosis with gastrointestinal involvement reported in the English-language medical literature. Although gastrointestinal involvement can range in severity from mild to life-threatening, its presence may be indicative of multisystemic disease, and aggressive treatment should be considered.     

Hematopoietic stem cell transplantation in Langerhans cell histiocytosis: case report and review of the literature

Abstract:  The prognosis in children with LCH who do not respond to the conventional therapies is very poor. SCT may be a new approach. However, there are limited data about the results of the transplantations. Herein we report a patient with refractory multisystem LCH who underwent allogeneic bone marrow transplantation and is disease and treatment free 54 months after transplantation. Further studies are required to establish the role of SCT in refractory LCH.     

Langerhans cell histiocytosis in a premature baby presenting with skin-isolated disease: case report and literature review

Langerhans cell histiocytosis (LCH) in premature babies is extremely rare as is a vesicular skin rash, while gastrointestinal involvement is associated with a poor outcome. We report a case of LCH in a premature baby presented with isolated vesiculo-papulo-macular skin lesions and insidiously developed gastrointestinal symptoms, haematological and severe pulmonary involvement. We also reviewed a few cases of LCH in premature babies in the English language medical literature. LCH in preterm babies appears to be a severe systemic disease, usually lethal in-utero or post delivery. CONCLUSION: Careful observation should be applied to newborns with skin-only Langerhans cell histiocytosis in order to identify in time progression to potentially fatal systemic disease.     

A case report and literature review of "primary" pulmonary histiocytosis X of childhood

"Primary" pulmonary histiocytosis X, a well-described entity in young adult males in which pulmonary disease is the overriding site of involvement, is exceedingly rare in children younger than 15 years old. We report a new case in a 2-year-old male and review other reported prepubertal cases. The diagnosis of pulmonary histiocytosis X is based on examination of lung tissue. Langerhans cells containing Birbeck granules, seen by electron microscopy, are virtually pathognomonic of histiocytosis X. These Langerhans cells also react with a monoclonal antibody (OKT6) as well as with antibody to S-100 protein. Based on the lack of consensus for the appropriate treatment of pulmonary histiocytosis X and on our patient's favorable response, we recommend initial therapy with corticosteroids alone, reserving more toxic agents for patients who fail to respond to this initial therapy.     

Thyroid involvement in Langerhans cell histiocytosis: a report of two cases and review of the literature

Langerhans cell histiocytosis (LCH) is a disorder with unclear etiology and pathogenesis characterized by abnormal clonal proliferation and accumulation of antigen presenting Langerhans' cells at various tissues and organs. Almost all organs or systems may be involved, and the prognosis depends on the involved sites and the presence of organ dysfunction. Thyroid tissue is a rarely affected site in children, and without histopathological evaluation it may be difficult to distinguish from other thyroid disorders because of the similar physical examination, laboratory and imaging findings. Here we report on two patients with histopathologically proven thyroid involvement of LCH. Additionally, the differential diagnosis of diffusely enlarged or multinodular thyroid glands in children is discussed, and a review of the literature of thyroid involvement in LCH is given. In the differential diagnosis of enlarged thyroid glands, especially in the presence of other endocrinological manifestations, LCH must be taken into consideration.     

朗格罕细胞组织细胞增生症合并恶性肿瘤2例并文献复习

目的总结和探讨朗格罕细胞组织细胞增生症（1angerhans cell histiocytosis,LCH）合并恶性肿瘤的类型、发病机制、两者之间的关系及治疗。方法对我院收治的2例朗格罕细胞组织细胞增生症合并恶性肿瘤患儿的病历资料进行回顾性总结并复习相关文献。结果2例患儿均为LCH合并神经母细胞瘤,两病同时诊断,患儿年龄均〈2岁,联合化疗及手术切除治疗预后良好。国外文献报道在大部分LCH和淋巴瘤、肺癌相关的病例中,LCH发生在确诊恶性肿瘤后的2年内,且和原发恶性肿瘤有紧密的病理联系,表明瘤细胞可诱发朗格罕细胞增生。而大多数LCH-白血病和LCH-其它实体瘤患者恶性肿瘤发生在LCH诊断后的较长时间,化疗继发恶性肿瘤可能性大。本文中报导的2例两种疾病同时诊断,它们之间的相互关系尚不明确。结论LCH合并恶性肿瘤临床比较罕见,LCH可能是特殊的树突细胞对恶性肿瘤反应增生的结果,或恶性肿瘤继发于LCH化疗,或者是两者独立存在,应以治疗恶性肿瘤为主,可兼顾LCH化疗。     

Langerhans cell histiocytosis of the sphenoid sinus: a case report

Langerhans cell histiocytosis (LCH), previously known as histiocytosis X, is a rare disorder characterized by clonal proliferation and excess accumulation of pathologic Langerhans cells causing local or systemic effects. Bone is the most common organ involved and a single skull lesion is the most frequent presentation of childhood LCH. However, sphenoid sinus is an uncommon condition of involvement in LCH. Here we report a case of LCH in the sphenoid sinus, which occurred in a seven-year-old girl who presented initially with headache. The girl had suffered from headache for one month before she went to an otorhinolaryngologist one week before. Magnetic resonance imaging (MRI) showed a lesion of inflammatory granuloma. Surgery was performed and the disease was diagnosed pathologically as single-site LCH via hematoxylin-eosin (H&E) and immunohistochemical staining.     

Primary pulmonary hypoplasia: a case report and review of the literature

A case of primary pulmonary hypoplasia in a term female neonate presenting with severe respiratory distress at birth is reported. Respiratory failure persisted and she died at 12 days of age. Primary pulmonary hypoplasia is a rare condition not associated with other maternal or fetal disorders.     

Central precocious puberty in multisystem Langerhans cell histiocytosis: a case report

The authors describe a girl with multisystem Langerhans cell histiocytosis (LCH) who developed central precocious puberty (CPP). At the age of 19 months she presented with otorrhea and polypoid formations in the ear canal; polyps were removed and LCH suspected. She subsequently developed diabetes insipidus with a documented lesion of the pituitary stalk; she received chemotherapy and began therapy with 1-desamino-8-D-argininevasopressin. Growth hormone deficiency was diagnosed at the age of 4.4 years and GH replacement therapy started. The patient has been off therapy for LCH since the age of 6. Signs of pubertal development appeared at 7.5 years (bone age 8 years) and gonadotropin-releasing hormone analog (GnRHa) treatment was started. During the observation period she developed central hypothyroidism. Development of CPP during LCH is extremely rare; to the authors' knowledge, no patient has been described so far. The authors believe that CPP was secondary to LCH and did not represent a casual finding, even in the absence of hypothalamic-pituitary axis involvement. The presence of preceding lesions producing excessive cytokine levels, with damage on the neurosecretory apparatus that inhibits the GnRH pulse generator, represents the most intriguing hypothesis. The possibility of CPP development should be considered during the follow-up of these patients.     

Gastrointestinal symptoms in disseminated Langerhans cell histiocytosis. Case report and review of the literature

Symptoms of gastrointestinal disease are variable in Langerhans' cell histiocytosis (LCH). The incidence of gastrointestinal involvement is estimated to be approximately 5% in disseminated LCH. This report focuses on a 10.5 months old female infant who suffered from relapsing diarrhea and intermittent anal blood loss since the second week of life and from weight loss later in the course of disease. Definite diagnosis of LCH was not established before the patient developed additional characteristic symptoms. Analysis of large series of patients and a retrospective histopathological study reveals that an involvement of the gastrointestinal tract must be anticipated in about 50% of all cases with disseminated LCH.     

Primary hypothyroidism, central diabetes insipidus and growth hormone deficiency in multisystem Langerhans cell histiocytosis: a case report

We report on a girl with central diabetes insipidus, growth hormone deficiency and bone lesions in multisystem Langerhans cell histiocytosis. Thickening of the pituitary stalk was detected by magnetic resonance imaging, which progressed over the course of the disease. During the observation period she developed primary hypothyroidism, which might be due to the extremely rare involvement of the thyroid gland in this disease. The girl underwent chemotherapy, which led to a regression of the Langerhans cell histiocytosis-lesion, but the hormone deficiencies persisted and substitution had to be continued. Langerhans cell histiocytosis should be included in the differential diagnosis in cases with pituitary stalk thickening and additional hypothalamic/pituitary hormone deficiencies, and in cases of acquired primary hypothyroidism, with or without enlargement of the thyroid gland and ultrasound findings similar to thyroiditis.     

原发性红斑肢痛症1例报告并文献复习

目的探讨原发性红斑肢痛症(PEM),一种罕见的常染色体显性单基因遗传病的主要临床特征及诊断治疗方法。方法整理分析1例10岁PEM女童的临床表现、SCN9A基因分析和随访资料,并进行相关文献复习。结果患儿双下肢端烧灼样疼痛4年伴阵发加剧,皮肤呈暗红色,肤温高,局部皮肤溃疡结痂,有阳性家族史。基因分析证实存在SCN9A基因突变。经口服慢心律治疗后,症状渐改善。结论 PEM以双下肢端皮肤发红、肤温升高和剧烈烧灼样疼痛为特点。可通过基因分析确诊。治疗方法多样但疗效不一。慢心律可作为治疗PEM的推荐用药。症状无改善者可试行交感神经节阻滞治疗,部分有效。     

弥漫性泛细支气管炎一例及文献综述

目的探讨儿童弥漫性泛细支气管炎的诊断和治疗。方法总结1例弥漫性泛细支气管炎患儿的临床、影像学表现以及病理改变,并复习相关文献。结果患儿临床表现为长期咳嗽、咯痰伴喘息,逐渐出现呼吸困难。双肺闻及较多细湿哕音及喘鸣音,杵状指可疑。胸部X线片：两肺透光度增强,左下肺见多发结节及网状影。胸部高分辨CT：两肺广泛分布小叶中心性细小结节影,左下肺局部小支气管壁增厚,双下叶和右中叶少许支气管轻微扩张。副鼻窦科瓦位提示副鼻窦炎。支气管镜肺活检病理提示支气管上皮破坏,管壁可见大量淋巴细胞、少量泡沫状组织细胞、中性粒细胞浸润,有淋巴滤泡形成,周围肺泡壁有少许淋巴细胞、组织细胞浸润,肺泡壁组织增生不明显,偶见局部纤维化并突入肺泡腔。常规肺功能提示混合性通气功能障碍,支气管舒张试验阳性。PaO2 65mm Hg。根据临床、影像表现、病理改变以及目前弥漫性泛细支气管炎的诊断标准,确诊为弥漫性泛细支气管炎。给予小剂量红霉素[5～10mg／（kg·d）]治疗,患儿病情明显好转。结论弥漫性泛细支气管炎可发生于中国儿童。主要诊断依据为慢性咳嗽、咯痰伴喘息,胸部CT表现为两肺弥漫性分布的小结节影,为细支气管中心性或小叶中心性,伴有副鼻窦炎。小剂量红霉素治疗可控制病情。     

儿童杜氏病1 例报告

目的探讨儿童杜氏病的临床诊治。方法回顾分析1例杜氏病患儿的临床表现、内镜下特点和治疗方法,同时复习相关文献。结果患儿,女,2岁5个月。因呕血7小时入院。经内镜下典型表现诊断本病。胃镜显示患儿病变部位为杜氏病好发位置胃角,局部糜烂区中央可见红色小血管裸露于黏膜表面。经胃镜下高频电凝治疗,疗效确切。结论儿童杜氏病临床罕见,缺乏明显临床特征性表现。消化内镜是诊断本病的首选检查方法。内镜下治疗创伤小、疗效确切,为首选治疗方法。