特纳综合征合并1p36缺失综合征误诊为甲减1例报告

1例身材矮小、原发性闭经就诊的女性患者进行染色体核型分析为45X核型,用微阵列比较基因组杂交技术扫描基因发现
1p36缺如,并在多个染色体上基因有异常,临床主要表现为身材矮小、女性第二性征缺如、原发闭经、直肠扩张、内生殖器缺如,
伴有甲状腺功能减退,智力一般等特征。容易被临床某一种表现而误诊,需要高度关注。
     

Multi-organ involvement of tuberculosis--case report of an atypical presentation

A case involving tuberculosis of multiple organs and mimicking carcinoma in several respects is presented.     

POEMS综合征伴肾损害1例报告

临床资料患者男,33岁,既往身体健康。于2002年7月份无意中发现双侧乳腺肿大,乳头增大,乳晕颜色加深,乳头可挤出少许黄色液体。局部不红,无疼痛,同时伴有性欲减退。因肿块增大迅速,于2002年8月在增城市医院行肿块切除术,切下肿物约3.0cm×3.0cm大小。病理检查结果示:男性乳房发育。2002年10月份出现颜面及下肢浮肿,伴双下肢乏力,活动后明显加重。无发热、尿痛、关节痛等,在当地予中西药治疗(具体不详),无明显疗效,2002年12月份再次前往增城市医院诊治。检查发现尿蛋白(++++),同时发现左腋下淋巴结肿大,约2.0cm×2.0cm,切除后行病理检查结果示慢性淋巴结炎。     

TP53缺失的初诊多发性骨髓瘤伴颅内侵犯2例

两例初治多发性骨髓瘤伴颅内侵犯的患者起病均以中枢神经系统功能受损为临床表现,颅骨受到破坏的同时存在多发硬膜侵犯。伴TP53缺失的遗传学异常与颅内侵犯的相关性,尚无定论。患者均接受含硼替佐米、阿霉素的多药联合方案,取得良好的短期疗效,与文献报道符合。TP53缺失的初治多发性骨髓瘤伴颅内侵犯预后不良。以硼替佐米为基础的强化学药物治疗方案联合自体或异基因造血干细胞移植有望提高临床疗效。     

以腹部肿块为主要表现的原发性胆汁性肝硬化1例报告

1临床资料患者女,38岁。因发热、下腹部疼痛6月,加重并眼黄、尿黄3天于2005年2月15日入本院。患者于2004年8月起开始出现发热、体温波动在38℃至39℃之间,无咳嗽及咳痰,后发现下腹部可触及一鸡蛋大小的包块,伴有乏力、纳差、饭后腹胀、入院前3天,全身症状及消化道症状加重,伴有下腹部间歇性绞痛,且出现眼黄,尿黄如浓茶样。体格检查:面色晦暗,全身皮肤、巩膜重度黄染,无肝掌,皮肤无出血点、皮疹及蜘蛛痣,浅表淋巴结无肿大,心肺检查未见异常,腹部膨隆,腹壁静脉不怒张,肝肋下3 cm,脾肋下4cm,质软,无压痛,下腹部正中可触及一大小约13 cm×13 cm×6 cm肿块,隆起于皮肤,质中,无压痛 更多还原     

Tolosa-Hunt综合征2例

0　引言　 Tolosa- Hunt综合征又称痛性眼肌麻痹 ,临床上较为少见 ,我们收治 2例 ,报道如下 .1　病例报告　例 1,女 ,5 7岁 ,以“头痛 1m o,复视 4d”,为主诉收住 .入院前 1mo曾患有感冒病史 ,但感右颞枕部疼痛 ,呈跳动样、阵发性 ,每日发作数次 ,受冷、吹风后疼痛加重 ,间歇期如常 ,进入睡眠后次日晨减轻 .入院前 4d出现右眼流泪 ,视物双影 .发病来无恶心、呕吐 ,无多饮、多食、多尿症状 .既往患高血压病史 30 a,长期服用降压药物 ,血压控制在 2 0～2 1.5 /12～ 12 .5 k Pa.无偏头痛病史、无糖尿病史 .查体 :神志清 ,语言利 ,右眼睑下垂 …     

SAPHO综合征5例临床分析

[摘要]　目的　了解SAPHO综合征的临床特征,尽早对该病做出诊断。　方法　收集5例SAPHO综合征患者的血常规(routine blood tes),肝肾功,血沉,C反应蛋白及免疫球蛋白,补体,HLA-B27等相关化验检查及胸锁关节、骶髂关节及腰椎CT,全身骨扫描检查临床资料。5例均有不同程度的皮肤、骨改变,其中2例有骶髂关节受累,1例耻骨联合受累,1例脊柱受累,3例有外周关节受累。4例HLA-B27阴性,1例阳性。5例患者分别予非甾体抗炎药,糖皮质激素及免疫抑制剂,肿瘤坏死因子拮抗剂,中药治疗。　结果　1例应用类克治疗,症状很快得到改善。3例分别在激素,NSAIDS基础上联合雷公藤,甲氨蝶呤,柳氮磺吡啶治疗,1例应用中药治疗,临床上关节肿痛好转。　结论　本病好发于中年女性,以掌跖脓疱病及上胸壁、胸锁关节受累多见,若无典型皮肤改变,容易误诊,影像学检查是必要的。早期进行治疗可以有效减轻症状,干预疾病进展。     

Two cases of Kartagener's syndrome.

Two cases of the syndrome of bronchiectasis, chronic sinusitis and dextrocardia with situs inversus (Kartagener's syndrome) are described. This rare disorder may be important in further understanding of cilial function in humans.     

僵人综合征——附5例报告并文献复习

目的 探讨僵人综合征的临床特点,提高对该病的认识。方法 分析5例病例,并复习文献。结果 本组病例均为男性,年龄13-53岁,急性或亚急性起病,主要症状为躯干及四肢肌肉僵硬伴肌痉挛,腹肌、咀嚼肌、表情肌和呼吸肌受累也不少见,伴有或不伴有疼痛。肌电图显示肌休时有持续运动单位电位,应用安定后消失。本组住院17-105天,恢复完全或不完全。结论 我国僵人综合征临床表现有自身特点,青壮年男性多见,起病较急,进展较快。痉笑面容、牙关紧闭对僵人综合征与破伤风无鉴别诊断意义。安定治疗效果满意。     

3例16p11.2微缺失综合征胎儿的产前诊断及其产前超声分析*

目的 分析3例16p11.2微缺失综合征胎儿的临床资料,探讨其产前诊断方法及宫内表型。方法回顾3例产前诊断为16p11.2微缺失（593?kb）胎儿的染色体核型分析、单核苷酸多态性微阵列（SNP微阵列）检测结果,分析这3例胎儿的产前超声特点。结果 病例1和病例2胎儿羊水染色体核型为46,XX,病例3胎儿羊水染色体核型为46,XY。病例1的SNP微阵列结果为arr[hg19]16p11.2（29,428,531～30,350,748）X1,即16p11.2存在922?kb的缺失。病例2的SNP微阵列结果为arr[hg19]16p11.2（29,591,326～30,176,508）X1,即16p11.2存在585?kb的缺失。病例3的SNP微阵列结果为arr[hg19]16p11.2（29,428,531～30,176,508）X1,即16p11.2存在748?kb的缺失。3例均有关键区域缺失,包含PRRT2、KCTD13、TBX6、HIRIP3、SEZ6L2等候选致病基因。病例1、2产前超声均提示胎儿半椎体畸形、脊柱侧弯,病例3产前超声提示胎儿颈部半透明膜增厚。结论 16p11.2微缺失综合征在产前可出现各个系统超声异常,但椎体畸形最为常见。中国汉族人群产前超声中如果出现胎儿半椎体畸形、脊柱侧弯,应考虑16p11.2微缺失综合征的可能。SNP微阵列分析可以有效地诊断16p11.2微缺失综合征,明确其断裂点以及所涉及的基因,有助于分析其基因型与表型的对应关系。     

Clinical manifestations and immunological features of primary Sjogren's syndrome with liver involvement: analysis of thirty cases

Objective To evaluate the incidence, severity, clinical manifestations and immunological features relevant to liver involvement in 135 cases of primary Sjogren's syndrome. Methods One hundred and thirty-five patients with definite primary Sjogren's syndrome were analyzed retrospectively for liver involvement by the abnormalities of the liver enzymes,bilirubin level and liver biopsied section.Results The liver involvement in 30 patients (22.2%) could be etiologically ascribed to Sjogren's syndrome itself. The clinical spectrum and severity of this entity differed widely, 36.6% showed no relevant clinical symptoms, however jaundice was found in 46.7% of patients. Six patients showed pathological changes of chronic active hepatitis. 73.3% of all patients with liver involvement responded to steroid and immunosuppressive drugs, yet with a tendency to relapse(two cases). Liver cirrhosis was developed in five cases. The spectrum of serum autoantibodies in the patients with liver involvement showed no difference from those without liver involvement. Most of them were compatible with the serum profile of autoimmune hepatitis type-1.Conclusions Liver involvement was complicated in 22.2% patients of primary Sjogren's syndrome. Clinical manifestations were non-specific and the main pathological change was chronic active hepatitis. The differential diagnosis between Sjogren's syndrome with liver involvement and type-1 autoimmune hepatitis could be only ascribed to other systemic clinical manifestations of Sjogren's syndrome.     

Abdominal lymphadenopathy: An atypical presentation of enteric fever

This is a case report of a patient who presented to the Aga Khan University Hospital with generalized abdominal lymphadenopathy and high-grade fever. Due to ambiguous clinical findings, which were suggestive of either abdominal tuberculosis, or a lymphoma, the patient was started on empirical anti-tuberculous treatment due to the endemicity of tuberculosis in this region. The blood culture reports, however, were reported to grow colonies of Salmonella paratyphi A; thus the diagnosis of the patient was changed to enteric fever, and the patient improved on the subsequently started therapy of ceftriaxone 2 000 mg bid. To the best of our knowledge, this is the first reported case of a patient suffering from enteric fever whose primary clinical findings were abdominal lymphadenopathy and fever.     

费尔蒂综合征的临床分析(附五例报告)

目的 总结费尔蒂综合征(FS)的临床特点.方法 回顾性分析我院收治的5例FS综合征患者的临床资料,并进行文献复习.结果 ①临床特点:5例均有类风湿性关节炎病史、脾大、贫血;4例发热或反复感染,2例轻度肝大;1例继发性干燥综合征,体重下降4例;②实验室检查:5例均有血细胞降低、血沉增快、免疫球蛋白增高、手足骨质破坏;类风湿因子高滴度阳性、抗核抗体阳性及低补体血症各4例.③5例均用激素和免疫抑制剂联合治疗,2例行脾切除.结论 FS是类风湿关节炎的特殊类型,具有独特的临床表现,激素和免疫抑制剂可治疗本病,必要时予以脾切除.     

腹腔间隙综合征5例报道

自1984年Kron提出腹腔间隙综合征（Abdominal compartment syndrome,ACS）以来,ACS逐渐开始引起人们的关注。任何原因引起腹腔内压（intra—abdominal preasure,IAP）增高所致腹腔内高压最终导致心血管、肺、肾、脑和胃肠道等多器官、多系统功能障碍的症候群统称为腹腔间隙综合征。ACS多发生在严重的腹部创伤、腹腔内病变所致的腹腔高压或需大量补液的病例。由于ACS无特有症状或体征,加之临床医生对ACS缺乏认识,常被忽视而漏诊,最终因未迅速有效的降低腹腔内压而导致严重的后果。