尼曼-匹克病2例

例1女,4岁,患儿因腹部膨隆2年入院。查体:营养发育中等,智力正常,全身皮肤未见黄染及出血点,面色苍黄,颈部可触及数个黄豆大小淋巴结,心肺未见异常,腹部膨隆,肝肋下8cm,质韧,边缘清楚,触之有压痛,脾达髂窝,质硬。神经系统查体未见异常。实验室检查:血常规WBC5.7×109/L,Hb83g/L     

尼曼-匹克氏病1例

患儿男,3岁6月.因＂腹胀3年＂于2005年11月4日入院.病程中患儿无反复发热、皮疹,无皮肤黄染及四肢浮肿,无呕血、便血,无心悸、胸闷及咳嗽,一直未予特殊治疗.起病后患儿精神可,饮食好,大小便正常,按时预防接种,无类似家族史.     

婴儿尼曼-匹克病1例

患儿，男，4个月。因腹泻，腹部逐渐增大1月余，于2005年1月27日入院。第一胎，顺产，出生体重2．9Kg，出生时情况无特殊。生后母乳喂养，第三天开始腹泻，为稀水蛋花样便，母乳不够加牛奶腹泻加剧，每天10余次。体检：体温37℃，体重4．2Kg，贫血貌，面色苍黄，消瘦、营养发育差。全身皮肤粘膜无出血点及淤斑。浅表淋巴结无肿大。咽充血，扁桃体Ⅱ期肿大，双肺呼吸音粗，可闻及罗音，心率120次／分，腹部膨隆，脾平脐，质硬，无明显触痛。眼底检查无异常。颈部略有抵抗，时有颈后仰，角弓反张。     

伴有吞噬现象的尼曼-匹克病1例

患儿,女,7个月,2007年5月15日,因间断腹泻1月余,发现肝脾大5天入院。1个月前患儿腹泻,2~3次/日,糊状便,无呕吐、发热、咳嗽等。未服药物治疗。第1胎,足月顺产,生后母乳喂养,未添加辅食。预防接种随社会进行。父母非近亲结婚。家族中无类似病人,其大伯母第一胎为双胞胎男孩,孕5个月时早产夭折,后曾4次不明原因的流产。其大姑第一胎女孩,生后3个月不明原因死亡。体检:T36.8℃,P120次/分,R25次/分,体重7kg,发育正常,营养中等,神清合作,不会独坐,全身皮肤粘膜未见皮疹及出血点,右颈部可及花生米大小淋巴结一个,活动,无压痛,颈部、腋下及腹股沟…     

尼曼-匹克病SMPD1基因突变分析

目的探讨中国人尼曼-匹克病(NPD)家系发病的分子遗传学基础及SMPD1基因检测在中国人NPD家系基因诊断中的意义。方法收集3个无关的NPD家系的临床资料和血液标本,同时选取20例健康儿童的血液标本。从外周血提取基因组DNA,经聚合酶链反应(PCR)依次扩增3个家系中所有成员SMPD1基因的6个编码外显子及其侧翼内含子序列,扩增产物纯化后直接进行正反向测序,并与Genebank进行比对;将发现突变所在外显子的扩增产物通过TA克隆技术进一步证实突变的实际意义。结果家系1先证者为T107C的纯合突变,其父母均为T107C的杂合突变;家系2和家系3的所有成员均发现在SMPD1基因外显子1上有连续6个碱基缺失,即在编码序列第108碱基至第113碱基GCTGGC的缺失(c.108-113del GCTGGC),且均为纯合突变。进一步应用TA克隆技术检测,家系2和家系3的所有成员随机挑选的单克隆测序结果均存在该突变c.108-113del GCTGGC。对20个正常对照的PCR扩增产物进行直接正反向测序,均未见以上突变。结论 SMPD1基因第1外显子上T107C的纯合突变为家系1先证者发病的分子遗传学基础,其父母是表型正常的基因突变携带者。家系2和家系3所有成员均发现在SMPD1基因第1外显子上存在c.108-113del GCTGGC的纯合突变,考虑为人类基因多态性。     

小儿尼曼-匹克病2例

例1 男3岁6月,因无明显诱因腹胀2年.家族中无相关疾病史.查体:T:36.7℃,P:102次/分,R:30次/分,体重:13 kg;营养中等,智力发育正常.     

异基因造血干细胞移植治疗尼曼匹克病B型1例

1病例资料 患儿,女,8岁,主因"生长迟缓2年余,脾大1年"入院.2年余前发现生长迟缓,就诊于外院,生长激素激发试验异常,头部MRI未见异常,间断予生长激素治疗1年余,身高无明显增长.1年前查体发现脾大,停用生长激素,脾脏无明显回缩.2018-10-8于北京儿童医院检查,骨髓涂片可见数个尼曼匹克细胞,基因测序示SMPD...     

尼曼-匹克病A型1例

1 临床资料 患儿,男,5个月18 d,因发现腹部包块2个月余,加重10余天入院.无反复发热、皮疹;无鼻出血、便血等.近2个月精神略差,喂养困难、食欲减退,时有呕吐,大小便正常,体质量不增.患儿2个月认识母亲,可逗笑,3个月抬头,4个月可用手撑上身数分钟,现不会抬头,不能逗笑.无类似家族史.     

小儿木村病1例

<正>患儿,男,7岁。因双眼睑浮肿3 d伴血小板减少入院。4年前患儿因双上臂肿块半年于外院就诊,诊断为"嗜酸性粒细胞增多症"。因家长拒行淋巴结活检,仅予以甲苯咪唑驱虫治疗。2年前患儿因"双眼睑浮肿"入我院小儿肾内科就诊,诊断为     

戈谢病1例

<正> 患者,男,1岁3个月,间断抽搐4次,发现腹胀半月余就诊。患儿4～5月龄时曾间断性惊厥4次,发作时突然头后仰,口周发绀,眼球凝视,意识丧失,四肢抽动,大小便失禁,抽搐时体温正常,持续时间     

Infantile Alexander's disease. A case report

The infantile Alexander disease is a leukodystrophy that appears in the early childhood, characterized by megaloencephaly, demyelination and presence of numerous Rosenthal fibers in the brain. This is an illustrative case in the study of patients with megaloencephaly and seizures, emphasizing the differential diagnosis. Our patient is a male infant aged 15 months with megaloencephaly, seizures, changes of behavior and delayed psychomotor development, with corroborated leukodystrophy demyelination in the brain, scanned by computed tomography (CT) and magnetic resonance (MR) imaging. It is a sporadic clinical case of infantile Alexander disease, without a known family history of the disorder. The final diagnosis has been confirmed by the magnetic resonance findings.     

家族性枫糖尿病1例临床诊治体会

枫糖尿病(maple syrup urine disease,MSUD)又称分支酮酸尿症,最早于1954年报道,是由于线粒体酶-支链α-酮酸脱羧酶缺陷引起的遗传性代谢病(hereditary metabolic disease,IMD).     

新生儿MN血型不合溶血病1例报告

<正>患儿,男,3h,因生后苍白、无呼吸,复苏后3h于2009年1月入院。患儿为第1胎第1产,胎龄36周,Apgar评分1min2分、5min4分、10min4分,出生体重3930g。复苏后因呼吸困难、面色苍白、腹胀明显予以气管插管,球囊加压给氧,而后转入我院。入院体检:体温不升,心率115次/min,呼吸17次/min,SpO264%,BP74/41mmHg。反应差,皮肤     

Priapism and Fabry disease: A case report

A 10-year-old boy presented with priapism of 10h duration which after unsuccessful conservative measures, was relieved by a saphenocorporeal shunt. A4-year history of intermittent vague aching of fingers and toes accompanied by lowgrade fever was reported. Fabry disease was confirmed by the lack -galactosidase acitivity in serum and leucocytes. Other characteristic features of Fabry disease were not present. The condition was also diagnosed in his 14-year-old brother and suspected in his maternal grandfather who died at the age of 49 from renal failure of unknown aetiology.     

Nephropathy and Charcot-Marie-Tooth disease. A case report

A 12 year-old girl with a family of Charcot-Marie-Tooth neuropathy was referred to us with mild proteinuria without hematuria or renal insufficiency; a renal biopsy specimen showed focal glomerulosclerosis. Two years later, proteinuria and renal function were quite stable and there was no arterial hypertension. Of 13 other cases in the literature, the outcome of renal involvement has the same profile:proteinuria at onset with or without microhematuria, sometimes with nephrotic syndrome; the prognosis is often poor, since 9 out of 13 patients have end-stage renal failure after 6 months to 17 years of follow-up. The pathological examination show focal glomerulosclerosis in most cases. Nerve deafness is uncommon in Charcot-Marie-Tooth disease but was present in 7 out of 13 patients with the nephritis. Such an association may be a variant of the dominant autosomal form of the disease, whose gene is located on chromosome 1.     

白血病误诊为Caffey氏病1例报告

临床资料患儿,女,7岁。3个月前无明显诱因出现右小腿下1/3部位间断性疼痛,缓解后又先后出现左上肢上臂,右上肢上臂,右小腿疼痛,胸痛,呈发作性,疼痛时难忍,曾于外院诊断为“关节炎、肩关节脱位、骨髓炎、尤文氏瘤”等病。每次发病均伴有发热,发热3~5d。我院以“右下肢疼痛原因待查”收入院。患儿有慢性扁桃体炎史,其父年幼时有骨痛史。入院时查体:T37.6°C,P106次/min,R26次/min,BP110/72mmHg,痛苦面容,无皮疹及出血点,咽部充血,双侧扁桃体充血肿大。心音有力,双肺呼吸音清。腹软,肝脾未触及。右下肢屈曲位,疼痛,表面无红肿,假性麻痹,有触…