疑难病研究——幼儿Castleman’s病

Castleman's病是一种局限性或系统性血管淋巴滤泡增生性淋巴结病,儿童罕见,其病因和发病机制不明。临床表现为淋巴系病变,伴或不伴有全身症状。临床分为单中心型(UCD)和多中心型(MCD)。病理改变包括透明血管型、浆细胞型和混合型。本病确诊需依据淋巴结病理活检。MCD目前无有效治疗,激素和α-干扰素可能对部分病人有效。UCD进行手术切除或加放疗可获完全缓解。     

Angiomatoid malignant fibrous histiocytoma with extensive lymphadenopathy simulating Castleman's disease

We report the association in a 10-year-old boy of an angiomatoid malignant fibrous histiocytoma (AMFH) of the left thigh with ipsilateral inguinal, pelvic and extensive retroperitoneal lymphadenopathy, and severe systemic manifestations. These include growth retardation, fever, severe anemia, hypergammaglobinemia, and hypoalbuminemia. At ultrastructural level the tumor was characterized by an abundance of myofibroblasts, occasional histiocytes, and small vessels with marked reduplication of the basal lamina. Biopsies of the inguinal and abdominal lymph nodes showed follicular hyperplasia and massive plasmacytosis indistinguishable from Castleman's disease (giant lymph node hyperplasia) of plasma cell type. The radical surgical excision of the primary tumor in the thigh resulted in the disappearance of the abdominal lymphadenopathy and a marked reduction in size of the pelvic lymph nodes with marked decrease of the gammaglobulins, thus proving that the nodal lesions were the expression of a reactive process to the tumor rather than a coincidental independent lymphoproliferative disorder. Retroperitoneal and pelvic node dissection was performed 1 year after the radical excision of the thigh tumor because of persistent pelvic lymphadenopathy and failure of serum immunoglobulins M and A to return to normal level, with a recent peak of IgA to twofolds that of normal value. Metastatic AMFH was found in the three pelvic nodes. One month postoperatively IgA returned to near normal level whereas IgM remained slightly elevated.     

Angiomatoid Malignant Fibrous Histiocytoma with Extensive Lymphadenopathy Simulating Castleman's Disease

We report the association in a 10-year-old boy of an angiomatoid malignant fibrous histiocytoma (AMFH) of the left thigh with ipsilateral inguinal, pelvic and extensive retroperitoneal lymphadenopathy, and severe systemic manifestations. These include growth retardation, fever, severe anemia, hypergammaglobinemia, and hypoalbuminemia. At ultrastructural level the tumor was characterized by an abundance of myofibroblasts, occasional histiocytes, and small vessels with marked reduplication of the basal lamina. Biopsies of the inguinal and abdominal lymph nodes showed follicular hyperplasia and massive plasmacytosis indistinguishable from Castleman's disease (giant lymph node hyperplasia) of plasma cell type. The radical surgical excision of the primary tumor in the thigh resulted in the disappearance of the abdominal lymphadenopathy and a marked reduction in size of the pelvic lymph nodes with marked decrease of the gammaglobulins, thus proving that the nodal lesions were the expression of a reactive process to the tumor rather than a coincidental independent lymphoproliferative disorder. Retroperitoneal and pelvic node dissection ivas performed I year after the radical excision of the thigh tumor because of persistent pelvic lymphadenopathy and failure of serum immunoglobulins M and A to return to normal level, with, a recent peak of IgA to twofolds that of normal value. Metastatic AMFH was found in the three pelvic nodes. One month postoperatively IgA returned to near normal level whereas IgM remained slightly elevated.     

Radiographic findings in type 3 b Gaucher disease

The purpose of this paper is to describe the radiographic findings in type 3 b Gaucher disease, a chronic neuronopathic form of the illness with severe systemic manifestations. Between 1980 and 1985 17 consecutive patients were evaluated with radiography of the chest, long bones and spine, CT of the head and chest, abdominal sonography, and MRI of the head, abdomen and spine. Clinical manifestations were severe, and led to death from hepatic, pulmonary or cardiac failure in nine patients. Type 3 b Gaucher disease shares the same spectrum of radiographic findings observed in type 1 disease, but the systemic manifestations are more severe. Pulmonary infiltrates, thoracic lymph node enlargement, vertebral compression fractures and osteonecrosis of the long bones occur much more frequently in patients with type 3 b disease.     

Skin manifestations of Kikuchi-Fujimoto disease: case report and review

Kikuchi-Fujimoto disease (KFD) is a histiocytic necrotising lymphadenitis, which is a benign disease of unknown aetiology. Misdiagnosing KFD as lymphoma or systemic lupus erythematosus is not uncommon due to the similarity of clinical and histopathological features of these diseases. A 12-year-old female suffered from cervical lymphadenopathy, leukocytopenia, fever and especially skin rash. The biopsy of the lymph node was compatible with KFD. The skin biopsy showed interface alterations with vacuolar degeneration of the basal cells suggesting lupus erythematosus; however, the patient did not fulfill the diagnostic criteria for systemic lupus erythematosus. After treatment with acetaminophen, fever subsided and the skin rashes disappeared without relapse during a 10-month follow-up period. Conclusion: the histopathological findings of cutaneous lesions in KFD are usually similar to those observed in the involved lymph nodes. This report suggests that interface change might be one of the pathological features of the cutaneous manifestations of KFD.Abbreviations KFD Kikuchi-Fujimoto disease - SLE systemic lupus erythematosus     

Sentinel lymph node mapping and biopsy: a potentially valuable tool in the management of childhood extremity rhabdomyosarcoma

Multimodal therapy, involving surgery, chemotherapy and radiation, now dominates the management of rhabdomyosarcoma (RMS) in childhood. Yet, despite improvements in these practices, extremity tumors continue to fare relatively poorly. Several investigators have identified prognostic factors that can be used to direct therapy and predict outcome. These factors include histology and metastatic disease, the latter requiring accurate staging to identify. The presence of lymph node metastases has been shown to be of prognostic significance and is incorporated into pre-treatment staging schemes. Up to 50% of all surgically evaluated nodes and 17% of clinically negative nodes in extremity RMS may harbor tumor, underscoring the increased risk of understaging the disease if accurate lymph node dissection is not undertaken. Despite its importance, there appears to be no standard format by which regional nodal status is evaluated in extremity RMS. Sentinel lymph node mapping and biopsy are a minimally invasive technique, currently used in the staging of adult breast cancer and melanoma. In adults, the technique is associated with optimum nodal yield and low morbidity. We describe a case in which sentinel node mapping and dissection were used to easily and accurately stage a distal upper extremity alveolar RMS in a child with clinically and radiologically negative regional lymph nodes. The procedure yielded no positive nodes, was associated with no morbidity and spared the child more extensive radiotherapy. We propose the further evaluation of this simple and innovative technique in the overall management of this childhood malignancy.     

以胰腺炎为首发表现伴腹腔淋巴结肿大1例

患者,男性,14岁,以腹痛为主要表现,血淀粉酶及脂肪酶增高,腹部超声提示胰腺肿大、回声减低,磁共振胰胆管成像（MRCP）提示胰管扩张、胰头显示不清,考虑急性胰腺炎。经禁食、补液、抑酸、生长抑素等治疗症状未缓解,复查腹部CT及MRCP提示胰腺多处低密度灶,肝门部及腹膜后淋巴结肿大,剖腹探查发现胰腺水肿,肝门部多发结节并与周围结构分界不清,活检病理提示间变大细胞淋巴瘤。结合患儿无肝脾、骨髓及中枢神经系统受累,诊断Ⅲ期原发性胰腺淋巴瘤。予VD减轻肿瘤负荷后,予以一次VDLD化疗及8次长春瑞滨联合地塞米松化疗,影像学仍提示胰腺多发低密度病灶及腹膜后淋巴结肿大。患者家属放弃治疗。对于治疗效果不好的急性胰腺炎需考虑少见原因所致,尤其对于伴腹腔淋巴结肿大者,需警惕结外淋巴瘤,尽早行淋巴结活检以明确诊断。胰腺淋巴瘤预后与临床分期及病理相关。     

The spectrum of Evans' syndrome

Eleven patients (10 boys, one girl) with Evans'' syndrome with a median follow up time of 8.0 years were evaluated retrospectively. Six patients had either persistent hepatosplenomegaly or generalised lymphadenopathy, or both. In five patients, an increase in lymph node and/or spleen size was observed during the exacerbations of cytopenias. Seven patients had quantitative serum immunoglobulin abnormalities at the time of presentation. There were associated systemic manifestations in nine patients. Various forms of treatment were used with mixed results. Four patients died from sepsis and haemorrhage; four had complete recovery—two after splenectomy. These findings show that Evans'' syndrome is a heterogeneous disorder with significant morbidity and mortality. High incidence of quantitative serum immunoglobulin abnormalities, lymphoid hyperplasia, and associated systemic manifestations suggest that Evans'' syndrome may represent a stage of a more broad spectrum, generalised immune dysregulation.

     

The multiple hematologic manifestations of neuroblastoma

The hematologic manifestations of neuroblastoma are numerous and varied. Bone marrow invasion by tumor cells may cause leukoerythroblastic changes or depression of one or more of the cell lines in the peripheral blood; occasionally bone marrow involvement may be so extensive that tumor cells may be released into the peripheral blood and lead to an erroneous diagnosis of leukemia. Anemia in neuroblastoma patients may result not only from bone marrow involvement, but also from bleeding into a tumor mass or from the hemolysis accompanying a consumption coagulopathy. A specific morphologic abnormality, the cogwheel erythrocyte, has been reported in patients with neuroblastoma. Neuroblastoma may also be associated with elevation of the platelet count or a hypercoagulable state. Recognition of these protean hematologic manifestations may facilitate diagnosis in children with atypical presentations of this highly malignant tumor.     

Teratoma Associated with Endodermal Sinus Tumor

A 3-1/2-year-old girl was diagnosed as having a mediastinal endodermal sinus tumor with pulmonary, bony, and hilar lymph node metastases. Following 7 months of treatment with chemotherapy, thoracic CT (computerized tomogram) scan showed the presence of a residual mass. Upon further surgical exploration the residual mass, which was found to be intrapericardial and arising from the ascending aorta, was resected. This second lesion was shown to be a benign cystic teratoma.

The combination of an intrapericardial teratoma and a mediastinal endodermal sinus tumor in a female child is probably unique. The possible etiology for the combination of these two pathologies is discussed.     

Kikuchi-Fujimoto's disease: report of 5 cases and literature review]

Kikuchi-Fujimoto's disease or histiocytic necrotizing lymphadenitis is a benign disease predominantly occurring in young women which etiology remains unknown and revealed by cervical lymphadenitis and/or prolonged fever. It has rarely been reported in children. Among the 5 cases reported, 1 child had a systemic localization. The diagnosis is based on the histological examination of a lymph node biopsy. The disease course was spontaneously favourable in 2 cases; a corticotherapy was needed in 3 children. A pathogen agent was found in 2 patients. Kikuchi's disease can reveal or evolve into autoimmune disease particularly lupus, thus a long clinical and biological follow-up is necessary.     

Cervical Castleman's disease in a 12 year-old child]

A case of unifocal cervical Castleman's disease without systemic manifestations occurring in a 12 year-old child is reported. Histological examination showed the characteristic features of angiofollicular lymph node hyperplasia. The results of immunological and in situ hybridization studies are also reported. A local IL6 secretion in the interfollicular areas was demonstrated.     

New adolescent polycystic ovary syndrome perspectives

Polycystic ovary syndrome (PCOS) is a common but heterogeneous disorder that usually arises during puberty. This endocrine disorder is associated with chronic anovulation and hyperandrogenemia with clinical manifestation of oligomenorrhea, hirsutism and acne. While the underlying etiology of PCOS remains unknown, it is commonly associated with obesity and insulin resistance leading to increased risk of cardiovascular disease, dyslipidemia and type 2 diabetes mellitus in hyperandrogenemic phenotypes. Menstrual irregularities and insulin resistance in obese adolescents are usually indistinguishable from the clinical manifestations of PCOS and pose a diagnostic dilemma due to higher circulating androgens during puberty. Consequently, a universal consensus on the definition of hyperandrogenemia in adolescents has been elusive. Nevertheless, hyperandrogenemia, independent of obesity, in postmenarchal adolescents is associated with increased risk of cardiometabolic syndrome. Therefore, treatment strategies including lifestyle changes and/or use of insulin-sensitizers, hormone replacement and antiandrogens should be utilized in order to delay long-term cardiovascular and metabolic complications of this endocrinopathy.     

Systemischer Lupus erythematodes im Kindesalter

The clinical manifestations of systemic lupus erythematosus (SLE) are heterogeneous. Non-specific symptoms such as fever, fatigue, lymph node swelling and loss of weight may precede systemic organ manifestations, making an early diagnosis difficult. Skin manifestations like the classical butterfly rash, as well as involvement of joints, kidneys, the central nervous system, and hematopoiesis are common and characteristic. Helpful laboratory results are an increased ESR, low complement factors such as C4 (hypocomplementemia) and, in particular, antibodies against double-stranded DNA. This article summarizes the clinical manifestations and the most important steps in diagnosing SLE in children and adolescents.     

Rolandic癫痫的遗传病学研究进展

Rolandic癫痫(RE)又称儿童良性癫痫伴中央颞区棘波(BECTS),是最常见的儿童特发性癫痫综合征。既往认为,RE预后通常良好,常在青春期以前自行缓解。1982年,Aicardi和Chevrie提出RE变异型(ARE)的概念,指部分RE患儿起病初期的临床及电生理表现符合RE的特点,但在病程的演变过程中,临床和脑电图出现恶化。目前认为RE是从轻型至严重脑功能损害的连续性癫痫失语谱系疾病(EAS),常伴不同程度的认知和言语功能障碍。RE谱系疾病病因复杂,发病机制仍不完全清楚。随着分子遗传学的发展,近年发现该谱系疾病为复杂多基因遗传和环境因素共同致病,并发现多个基因与其相关。现重点关注RE谱系疾病的遗传学最新进展,从相关基因分子生物学特点、变异与RE谱系疾病的临床相关性及变异的功能学研究3个方面进行详细阐述,以帮助RE癫痫谱系疾病的临床基因报告解读和临床诊断。     

An Analysis of Lymph Node DNA for Possible Bacterial Agents of Cat-Scratch Disease

Recent investigations have implicated Afipia felis and Rochalimaea henselae as possible agents of cat-scratch disease (CSD). We studied lymph nodes with necrotizing granulomas characteristic of CSD for A. felis and R. henselae DNA so that the relationship of these organisms to lymph nodes with necrotizing granulomas of unknown etiology might be better defined.

We examined formalin-fixed, paraffin-embedded lymph node biopsies with necrotizing granulomas suggestive of CSD from 28 children obtained over the last 10 years. None had identifiable bacteria, fungi, or acid-fast organisms on routine staining. Pleomorphic bacillary structures consistent with the CSD bacillus were seen with the Steiner stain in 17 cases. We performed the polymerase chain reaction (PCR) on the extracted lymph node DNA with DNA primers for these organisms after demonstrating the presence of amplifiable DNA with c-K-Ras primers. R. henselae was identified in two samples. A. felis DNA was found in just one specimen.

These putative CSD bacteria are infrequently associated with necrotizing granulomas using standard PCR techniques. It is possible that some of the patients did not have clinical CSD. The preservation of DNA or numbers of bacteria in the extracted sections may be inadequate for demonstration by DNA amplification methods. These bacilli may be responsible for a small proportion of these characteristic lesions of unknown etiology, or the typical CSD histology, including the presence of pleomorphic bacillary structures, may be nonspecific.     

Recurrent alveolar rhabdomyosarcoma with prior surgery and radiotherapy: altered lymphatic drainage limits the reliability of sentinel lymph node biopsy

A 7-year-old girl was diagnosed with alveolar rhabdomyosarcomas of the right crural region. The patient was initially treated with chemotherapy and surgery with wide surgical margins, with radiotherapy. The tumors relapsed in the popliteal region surrounding the popliteal vessels. The patient received sentinel lymph node biopsy for a recurrent tumor using isosulfan blue dye, with the "sentinel node" being malignant-negative, and a "nonsentinel node" positive. Sentinel lymph node biopsy with conventional blue dye alone might be insufficient to assess lymph node status in patients with recurrent rhabdomyosarcoma previously treated with surgery and/or radiotherapy.     

原发性肠淋巴瘤p53基因与13q14染色体变异与预后的关系

目的：临床发现尽管原发性肠淋巴瘤的免疫表型相同,但预后也可以截然不同,提示其预后不是单一因素所决定的,可能还与其基因或染色体的变异有关。p53基因是一种重要的抑癌基因,13q14缺失是多种淋巴细胞增殖性疾病常见的染色体异常,该研究拟探讨p53基因与13q14染色体变异在原发性肠淋巴瘤的预后判断、指导治疗中的作用,为临床治疗方案的制定提供依据。方法：采用改良的FISH技术检测了30例原发性肠淋巴瘤及10例淋巴结反应性增生患者的石蜡切片中p53基因及13q14染色体变异情况,分析其与原发性肠淋巴瘤预后的关系。结果：①Ⅰ~Ⅱ期患者中22.7%有p53基因缺失,Ⅲ~Ⅳ期患者中75.0%有p53基因缺失（χ2=6.903, P<0.01）;②MALT淋巴瘤中14.3%有p53基因缺失,非MALT淋巴瘤中56.3%有p53基因缺失（χ2=5.662, P<0.05）;③p53基因缺失者平均生存期为13.4月,明显短于p53基因正常者36.1月（t=2.637,P<0.05）;④13q14缺失在原发性肠淋巴瘤中发生率为40%,但在10例淋巴结反应性增生患者的石蜡切片中未检测到。13q14缺失与原发性肠淋巴瘤病理类型、临床分期以及平均生存期的关系不大;⑤p53基因缺失与13q14缺失无明显相关性。结论：p53基因缺失在非MALT淋巴瘤及Ⅲ~Ⅳ期患者中发生率较高。p53基因缺失的原发性肠淋巴瘤病例恶性程度高、预后差,宜早期联合化疗。13q14缺失与患者预后无明显相关性。［中国当代儿科杂志,2009,11（7）：555-558］     

Prolonged cerebral salt wasting syndrome associated with the intraventricular dissemination of brain tumors. Report of two cases and review of the literature

Hyponatremia is a frequent event in neurosurgery practice and is usually associated with subarachnoid hemorrhage, head trauma, infections and neoplasms. The two common clinical manifestations are the inappropriate secretion of antidiuretic hormone (SIADH) and the cerebral salt wasting syndrome (CSWS), which were usually attributed to each other due to identical clinical presentation. In contrast to the better-recognized SIADH, there has not been a uniform consensus over the humoral and neural mechanisms of CSWS and functional aspects of renal response. In this article, we report on 2 cases of a primitive neuroectodermal tumor with prolonged CSWS manifested during the intraventricular dissemination of primary disease and the high catabolic stage.