Beckwith-Wiedemann Syndrome-associated Hepatoblastoma: Wnt Signal Activation Occurs Later in Tumorigenesis in Patients with 11p15.5 Uniparental Disomy

Beckwith-Wiedemann syndrome (BWS) patients with chromosome 11p15.5 uniparental isodisomy (UPD) have an increased risk for developing embryonal tumors. UPD in these patients involves maternal loss of heterozygosity (LOH) and paternal duplication, which leads to tissue overgrowth and tumor development. Although 11p15.5 UPD predisposes to tumorigenesis, the events leading to tumorigenesis in UPD patients remains unknown. We have examined two hepatoblastomas in the BWS patients with UPD to determine the sequence of genetic events. Constitutional 11p15.5 LOH was detected in the blood or nonneoplastic liver of the BWS patients with hepatoblastoma. Mutation of -catenin gene (CTNNB1) was found in one hepatoblastoma. Although mutations in CTNNB1 were not found in the second hepatoblastoma, nuclear accumulation of -catenin was detected. However, mutation of CTNNB1 or nuclear accumulation of -catenin was not detected in the tissue with hepatomegaly which contains UPD cells. These data indicate that Wnt signal activation can be involved as a later event in BWS-associated hepatoblastoma involving 11p15.5 UPD.     

干洋李腹综合征一家系2例

例1，男，1h，长子，胎龄41周，因腹腔器官外露就诊。其母孕期利，患儿出生后呼吸弱，足月新生儿外貌，反应差，头颈心肺正常，腹部皮肤菲薄，腹腔脏器依稀可见，且有部分小肠沿脐孔疝出（未坏死），双侧隐睾，右足马蹄内翻足，生足多趾畸形。诊断：干洋李腹综合征。放弃治疗死亡。     

先天性纤维蛋白原缺乏症3例

先天性纤维蛋白原缺乏症(congenital abnormalities of fib—rinogen,CAOF)是一种罕见的常染色体隐性遗传性疾病,表现为自幼自发性出血或外伤后出血不止。临床医师对此认识不足,易误诊为血友病。我院1994～2003年共收治CAOF患儿3例。现总结如下。例1,女,1岁,因反复皮肤血肿、鼻衄入院。9个月时曾头碰硬物头顶部血肿(6 cm×5 cm),半个月后慢慢消退。体检:中度贫血貌,头顶部大血肿1个(4.0 cm×5.0 cm);躯干瘀斑4个(1.5 cm×2 cm)。血Hb 7 g/L,PLT 170×1012/L,     

Russell-Silver 综合征 11p15.5 区域遗传缺陷分析

目的探讨Russell-Silver综合征(RSS)发病机制。方法采集6例男性,年龄6~8岁的临床表型疑似RSS患儿,以及2例患儿父母、5例健康男性儿童的外周血2 m L,分离单个核细胞并提取基因组DNA,应用焦磷酸测序技术进行分析,检测染色体11p15.5上印记基因控制区域(ICR)1的H19基因的甲基化水平。应用甲基化特异性多重连接探针扩增技术(MS-MLPA)对1例焦磷酸测序结果阳性且为RSS患儿的甲基化水平进行验证分析并对相应区域的基因拷贝数进行检测。结果焦磷酸测序结果显示,6例患儿在H19-差异甲基化区域(DMR)的6个Cp G位点的甲基化率为11%~29%;患儿父母及正常对照组对应位点的甲基化率为44%~59%。焦磷酸测序结果阳性的1例患儿对应的MS-MLPA结果显示,H19基因的4个位点甲基化率在10%左右,明显低于正常水平。KCNQ1OT1基因的4个位点甲基化率约为50%,在正常范围内。所测样本的基因拷贝数均在正常范围内。结论 RSS患儿的ICR1的H19-DMR存在甲基化水平异常。     

Non-11p Constitutional Chromosome Abnormalities in Wilms' Tumor Patients

The incidence in Wilms' tumor patients of constitutional chromosome defects other than those involving the short arm of chromosome 11 was examined using data on 5,854 patients registered in the National Wilms Tumor Study. Trisomy 18 and Turner syndromes were found to occur at higher rates than expected based on chromosome surveys of newborns. Four patients were reported to have trisomy 18; all of these patients were over 5 years of age at the time of diagnosis of Wilms' tumor and none survived longer than six months. Four patients were reported to have Turner syndrome; these patients are currently doing well and have all survived at least 3 years following diagnosis. Two of the Turner patients and one of the trisomy 18 patients had horseshoe kidneys; we speculate that this renal anomaly may contribute to the higher rates of tumor in these patients. No clear pattern was found among patients with other chromosome defects, although two patients had defects involving 2q37. © 1995 Wi1ey-Liss, Inc.     

A Case of Beckwith-Wiedemann Syndrome with Conductive Hearing Loss

ABSTRACT. A case of Beckwith-Wiedemann syndrome with conductive hearing loss due to fixation of the stapes is described. This is the second case described in the literature. However, some patients may not have been diagnosed. We suggest that hearing of patients with BWS should be tested at intervals from early childhood.     

A Case of Beckwith-Wiedemann Syndrome with Conductive Hearing Loss

ABSTRACT. A case of Beckwith-Wiedemann syndrome with conductive hearing loss due to fixation of the stapes is described. This is the second case described in the literature. However, some patients may not have been diagnosed. We suggest that hearing of patients with BWS should be tested at intervals from early childhood.     

Pathology of Suspected Acquired Immune Deficiency Syndrome in Children: A Study of Eight Cases

Biopsy and/or autopsy material from lymphoreticular and other organs was studied in 8 children with suspected acquired immune deficiency syndrome (AIDS). One or both parents of each of these children had one or more of the recognized risk factors for AIDS, such as intravenous drug abuse, prostitution, Haitian origin. The following histologic patterns were noted in the lymph nodes: (1) follicular hyperplasia with normocellular paracortex, (2) follicular hyperplasia with depletion of paracortex, and (3) atrophy of follicles with depletion of paracortex. Lymphoid interstitial pneumonitis (LIP), a previously unreported lesion in AIDS, was present in 4 cases. It is suggested that the pulmonary lymphoid lesion may be part of a more generalized lymphoid hyperplasia involving B cells. The gross and microscopic features of the thymus, available in 2 of the 8 cases, indicated that the immunologic defect in these children was not of congenital type. Pathologic findings can be helpful in the diagnosis of the syndrome when correlated with clinical and immunologic features of suspected cases and of the pulmonary lesion. The latter is of importance in deciding the type of therapy to be given for the pulmonary disease process.     

家族性高乳糜微粒血症2例

家族性高乳糜微粒血症(FCS)是一种罕见的常染色体隐性遗传病,亦称原发性高脂蛋白血症Ⅰ型.本院6 a来诊治2例.现报告如下.     

Neu-Laxova Syndrome: Report of Two Cases

Two cases of Neu-Laxova syndrome are reported. The pathological features are described. There is marked swelling of the palms and soles, which is due to massive fat and myxomatous connective tissue proliferation in addition to edema. Lissencephaly with hypoplasia of cortical descending fibers is observed, along with cerebellar hypoplasia. The occurrence of 2 micro cephalic male and female infants dying shortly after birth in the same sibship with 1 normal baby in between confirms similar findings by others and supports an autosomal-recessive inheritance. The relevance of pathological examination in further delineation of the phenotypic appearance is discussed.     

松软儿综合征2例

1 临床资料 例1,女2岁,因生后全身松软2a入院.患儿足月顺产,第1胎,第1产.母孕期胎动正常.出生时体软,哭声弱,吸吮无力.5个月抬头,8个月独坐,1岁5个月会走,不能跑步.     

Fibroadenoma in Beckwith–Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5

Herein is described a case of breast fibroadenomas in a 16‐year‐old girl with Beckwith–Wiedemann syndrome (BWS) and uniparental disomy (UPD) of chromosome 11p15.5. She was clinically diagnosed with BWS and direct closure was performed for an omphalocele at birth. Subtotal and 90% pancreatectomy were performed for nesidioblastosis at the ages 2 months and 8 years, respectively. Bilateral multiple breast fibroadenomas were noted at the age of 16 and 17 years. In this case, paternal UPD of chromosome 11p15.5 was identified on microsatellite marker analysis. The relevant imprinted chromosomal region in BWS is 11p15.5, and UPD of chromosome 11p15 is a risk factor for BWS‐associated tumorigenicity. Chromosome 11p15.5 consists of imprinting domains of IGF2, the expression of which is associated with the tumorigenesis of various breast cancers. This case suggests that fibroadenomas occurred in association with BWS.     

Cystic Lung Disease in Down's Syndrome: A Report of two Cases

Previously unreported lung disease found at autopsy in 2 young infants with Down's syndrome and congenital heart disease (complete atrioventricular canal malformation with left-to-right shunt) is described. The perinatal and neonatal period was unremarkable, and there was no history of mechanical ventilation or administration of high concentrations of oxygen for extended periods. In 1 of the cases respiratory symptoms and hyperinflation with focal cystic changes in the lung fields on chest X-ray were noted at 5-7 months of age. Pathologically there was cystic dilatation of alveoli with focal cuboidal metaplasia of alveolar epithelium and mild to moderate focal alveolar septal fibrosis. Wilson-Mikity syndrome, congenital pulmonary lymphangiectasia, bronchopulmonary dysplasia, and idiopathic interstitial fibrosis of lungs were ruled out on clinical and/or pathologic grounds. Factors such as compression of bronchi by enlarged pulmonary arteries or cardiac chambers, peribronchiolar accumulation of fluid, pulmonary hypoplasia occurring in Down's syndrome, and episodes of pulmonary arterial hypoperfusion associated with severe congenital heart disease may be related to the pathogenesis of the lesion.     

小儿精索静脉曲张11例报告

报告１１例小儿精索静脉曲张，年龄５～１２岁。根据局部体征该症诊断并不困难，但多因无临床症状而被忽视。１１例均行精索内静脉高位结扎术。术中测量静脉断面直径平均３．２０ｍｍ；７例顺行性静脉造影，４例显示血管变异；９例病理组织学观察，发现在小儿睾丸已发生损害。为减少不育症，主张早期手术治疗。     

脊髓前动脉综合征2例

例1，女，12岁9个月。因四肢瘫痪31h入院。患儿于入院前31h跳皮筋时突然出现背疼，随后双上肢不能上举，4h后不能行走，6h后出现发热及尿潴留。既往体健，否认外伤史。查体：体温37．8℃，神志清，心肺无殊，四肢肌张力减低，双上肢肌力3级，双下肢肌力2级，肱二头肌腱、肱三头肌腱反射、膝腱反射、跟腱反射未引出，颈抵抗（＋），病理反射未引出，胸4水平以下痛温觉减低，深感觉和颅神经检查正常。入院后查血生化和脑脊液常规及生化正常。磁共振（MRI）：颈4～7脊神经增粗。入院后诊为脊髓前动脉综合征。予地塞米松、甘露醇、B族维生素对症治疗，因经济原因住院72h后自动出院。出院后电话随访，外院诊断为系统性红斑狼疮。出院后2个月死亡。     

Neonatal Marfan Syndrome: Report of Two Cases

Background

Neonatal Marfan syndrome is a rare and severe phenotype of this disease. A poor prognosis is anticipated due to the high probability of congestive heart failure, and mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management at an early age.

Case Presentation

We present two consecutive patients with this disease who are the first reported cases from Iran to the best of our knowledge. Unfortunately both of them died shortly after diagnosis.

Conclusion

Neonatal Marfan syndrome is reported from Iran and has a poor prognosis like the patients reported from elsewhere.     

新生儿戒断综合征2例

例1，女，第2胎，第2产，孕36周，因胎心持续〈100次／min剖宫产娩出，生后1、5、10n血Apcar评分均9分，但心率〈100次／min，予1：10000肾上腺素0．2mL脐静脉注射，效果不佳．故人我科。查体：体温正常，脉搏70～80次／min，呼吸30次／min，体质量2500g，身长46cm，头围32cm。早产儿貌，前囟平软，口唇红。双肺清，无哕音。心率70次／min， 心尖     

Vascular Abnormalities in Congenital Cutis Laxa - Report of Two Cases-

Two cases of Japanese girls with congenital cutis laxa associated with cardiovascular abnormalities are described. Case 1: A 12-year-old girl has been under our observation from the age of 6 months. Cardioangiogram revealed dilatation of the ascending aorta, meandering of the descending aorta and the coronary arteries, coiling of the carotid and innominate (brachiocephalic) arteries, and hypoplasia of the pulmonary arteries. Case 2: A 2.8/12-year-old girl died after our follow-up from the age of 3 months. The cause of death was congestive heart failure secondary to peripheral stenosis of the pulmonary arteries. In both cases, skin biopsy revealed a decreased number of elastic fibers and an increased amount of acidic mucopolysaccharides. The same histological features were observed in the pulmonary arteries and other arteries as well. Electron microscopic findings were diffuse thinning of elastic fibers and reduced elastic content. The high blood level of elastase (167.8 μg/l) in case 1 may cast a light on the unknown etiology of the disease.     

出血性休克与脑病综合征4例

1 临床资料 例1,男,9个月,因发热40℃,呕吐、腹泻2d,抽搐12h,收住本院内科病房.查体:嗜睡,面色苍白,反复抽搐,呼吸急促,轻度腹胀;血常规无异常,CRP52mg/L大便黄稀.