二磷酸盐治疗婴儿特发性动脉钙化症

患儿,男,G1P3,孕38^＋4周因宫内窘迫无产兆剖宫产,生后26h因精神弱入院。入院时血压75／37mmHg（1mmHg=0．133kPa）,精神弱,呼吸促,口周微绀,双肺呼吸音粗,可闻及痰呜音,心音有力,律齐,心前区可闻及Ⅱ／Ⅵ级杂音,腹软,肝肋下4cm,剑下4．5cm。     

特发性基底节钙化症一家三例报告

先证者女,13岁,因头晕4 d,抽搐1次入当地县医院.既往体健.体检:身高119.5 cm,体重25 kg,体形匀称,第二性征未出现,神清语利,心肺无异常,肝右肋下4 cm,质中,脾左肋下恰及.神经系统体征均阴性.腹部及甲状腺B超未见异常;头颅CT:颅内广泛钙化(图1),血电解质正常.当时未能确诊,经当地治疗无好转于5 d后死亡,具体死因不详.因患儿存在体格发育明显落后及颅内广泛钙化,疑为遗传代谢性疾病,故其直系家属均进行了头颅CT检查,发现先证者两个妹妹均存在颅内广泛钙化.为求进一步诊治而转我院,我院综合其临床表现、血液生化检查结果、头颅CT和家族发病等特点,排除其他继发因素后,诊断为特发性基底节钙化症.     

以佝偻病和高血压为表现的婴儿全身性动脉钙化症1例

为探讨婴儿全身性动脉钙化症（GACI）的临床表现、诊断及治疗,提高临床医师对该病的认识。回顾性分析2020年11月首都医科大学附属北京儿童医院确诊的1例GACI患儿的临床资料及其基因检测结果。患儿男,6岁7月龄,新生儿期合并心脏疾病,儿童期低磷性佝偻病,高血压,并有腹腔干、肾动脉等多处动脉狭窄,肾脏钙质沉积,全外显子检测发现患儿致病基因ENPP1基因复合杂合变异,最终诊断为婴儿全身性动脉钙化症。GACI是一种罕见常染色体隐性遗传病,需要多学科联合治疗。ENPP1基因为其致病基因,该病例扩大了ENPP1基因变异谱。     

婴儿石骨症一例

患儿,女,2个月,因“呕吐3天,发现腹部包块半天”入院。呕吐3～4次/日,为胃内容物,多在喂奶后出现,无腹泻,无发热及咳嗽。足月产钳助产,无窒息及抢救史。生后母乳喂养,无贫血及出血史。查体:T36.9℃,P130次/分,R36次/分,W5Kg,精神可,头颅五官无畸形,皮肤巩膜无黄染,面色差,前囟1.5cm×1.5cm,胸廓无畸形,双肺呼吸音清,心音有力律齐,腹胀,肝肋下7.5cm,剑下3cm,质韧,脾脏肋下6.5cm,质韧,叩诊为鼓音,肠鸣音正常,脊柱四肢无畸形,四肢肌张力正常。实验室检查:血常规WBC(14.2～31.1)×109/L,HB(90～101)g/L,PLT(37～73)×109/L,肝功能AST173…     

婴儿特发性泛发性钙质沉着症1例报告

本病系原因不明的少见疾病,其特点是局部或广泛的皮肤、皮下组织、浅层肌肉肌腱、腱鞘等弥漫性钙化.我院诊治1例,报告如下.女,3个月.因偶然发现双下肢不对称来诊.查体:左下肢较对侧为细,小腿尤(?).皮下软组织可扪及无痛性不规则长条及(?)节状肿块,随肌束活动.邻近关节活动不受限.皮肤色泽正常.血Ca,P 及AKP均在正常范围.     

特发性弥漫性肺间质纤维化症一例

患儿,男,3岁,干咳、呼吸急促一个月入院。发病前无诱因,睡眠后呼吸急促减轻。发病以来精神差,乏力、少动、嗜睡,在当地县医院按肺炎治疗无效。体检:体温37℃,呼吸68次,发育营养差,消瘦,面罩吸氧下口唇发绀,轻度鼻扇,杵状指,胸廓无畸形,双肺底部可闻及细湿罗音,心率110次/分,心音有力,无杂音,肝肋下1cm,血红蛋白133g/L,白细胞13.1×10~9/L,中性粒细胞44％,     

婴儿真性红细胞增多症一例

患儿男,5个月。因口周、指端渐进性发绀2个月入院。2个月前,患儿无明显诱因出现口周及指端发绀,渐加重。家族中无类似疾病史。母亲系农民,孕期及分娩后无服药及接触射线史。体检:神清,营养发育中等,面色紫绀,脾肋下2ｃｍ,质中。实验室检查:红细胞835×1012/Ｌ,血红蛋白199ｇ/Ｌ,红细胞压积63%,平均红细胞体积75,白细胞222×109/Ｌ,血小板230×109/Ｌ。Ｘ线胸片:双肺无明显病变,心脏大小及形态无异常。心脏彩色多普勒超声检查:心脏大小结构无异常。Ｂ超:脾稍大、双肾、肝脏无异常。骨髓检查:骨髓增生活跃,各期形态正常,粒:红=096,巨核系大致…     

婴儿特发性乳糜胸1例

患儿，男，32大，因突然气急、阵发性青紫3小时入院，患儿3小时前在哺乳时突然出现烦燥，吃奶费力，面部青紫，大汗淋漓，病前轻咳3天、无呛咳，无热，无吐。检查神清，T36．8℃，P180次／分，R80次／分，BP8／6kPa，体重4kg，全身青紫，气管移向左侧，吸气凹陷（＋），点头样呼吸，右侧呼吸运动减弱、助间隙饱满、叩诊油音、右侧呼吸音降低、语音降低、左侧正常、心前区元隆起，心尖搏动向左移位、在左乳线外（2～3）C。、心音低、律齐、无杂音，腹软，肝上界位于右侧第6～7助间，肝肋下4cm，剑突下2．6cm质较，脾朋下未及，神经系统无…     

婴儿型脊髓性肌萎缩症一例

患儿男,3d.因"四肢松软、无力3d"入院.第2胎第2产,胎龄38周,因胎动减少,剖宫产性,出生体重3700g,无产伤窒息,母孕期体健.第1胎出生时窒息、松软、生后1周继发肺炎死亡,父母体健,非近亲结婚.体检:体温、脉搏、血压、头围均正常,外观无畸形、无皮疹、无色素沉着和色素缺失,神志清、警觉,眼球转动灵活,呼吸稍快、吸吮尚有力、心肺腹正常,脊柱四肢无畸形,关节无弯曲,四肢肌张力低下、刺激两上肢、下肢不能回缩、膝腱反射未引出,巴氏征阴性.     

婴儿痉挛症超早期外科治疗一例

病例资料 患儿,男,7个月零6天,因发作性点头2月余入院.患儿于近5月大时注射"白百破"疫苗,当晚出现突发点头,伴双上肢轻微拥抱样动作,间歇10余秒后反复发作上述动作,当晚发作10余次,每次1～2 s.     

Two cases of idiopathic infantile arterial calcification

We present the clinical course and management of two infants with idiopathic infantile arterial calcification. Both had coronary artery involvement and presented with ischaemic cardiac failure. Neither responded well to conventional therapy with inotropic agents, glyceryl trinitrate, diuretic and mechanical ventilation, nor to short‐term biphosphonates. One was treated with levosimendan and extracorporeal membrane oxygenation to no avail.     

Idiopathic infantile arterial calcification with thrombotic microangiopathy--a unique case

Idiopathic Infantile Arterial Calcification (IIAC) is a rare syndrome of unknown cause characterized by disruption and calcification of the internal elastic laminae of fetal arteries with calcium deposits leading to fibrosis and occlusion of the arteries. The diagnosis is often made at post-mortem examination. However, in a few cases it has been detected prenatally as in this case. Fewer than 10 cases of antenatal detection of this condition have been reported in the literature. In our case, thrombotic microangiopathy was an added feature, which has not been reported thus far in the literature to the best of our knowledge.     

Idiopathic infantile arterial calcification: case report

Idiopathic infantile arterial calcificationI (IIAC) is a rare disorder characterized by calcium deposition in the internal elastica lamina of medium and large arteries and it has been defined in term of molecular genetics. It is usually fatal, approximately 85% of all patients die within the first months of life owing to ischemia of vital organs. Death from myocardial infarction usually occurs in the first 6 months. Calcification in a peripheral artery with electrocardiogram (ECG) changes of occlusive coronary artery disease suggests the diagnosis. It is caused by mutations in the ENPP1 gene localized on chromosome 6q22 and has OMIM number 208000. A case with fatal evolution at the end of the first month is presented.     

Idiopathic infantile arterial calcification: a case report and review of the literature

Idiopathic infantile arterial calcification (IIAC) was diagnosed radiologically in an infant with sudden onset of heart failure. The clinical picture, radiological, laboratory and postmorten findings, are described in detail. There was no family history and a metabolic abnormality could not be detected.Calcifications of major arteries and particularly ligaments are pathognomonic radiologic signs of this condition but diagnosis of IIAC during life has been established only rarely. The value of early diagnosis is emphasised.     

Idiopathic infantile arterial calcification with survival to adult life

Summary Moran, in an excellent review [9], defined idiopathic infantile arterial calcification as a rare disorder of undetermined etiology, characterized by deposition of calcific material along the internal elastic membrane of large, medium, and small arteries. Fibrous proliferation in the intima occurs and the arterial lumen is narrowed. The constellation of affected tissues varies but the coronary arteries are almost always involved whereas the arteries of the central nervous system are spared [2]. Death from myocardial infarction usually results within the first six months of life. To date there have been only three survivors [6, 8]. We present the case history of a fourth survivor, a 22-year-old woman who, at the age of three months, was diagnosed as having idiopathic infantile arterial calcification.     

Idiopathic infantile arterial calcification: Unusual features

Idiopathic infantile arterial calcification (IIAC) is a rare disease of unknown etiology, which causes wide-spread arterial calcification and usually leads to early death from coronary arterial occlusion. Periarticular calcification has been reported in some cases. Two new cases are reported. In addition to the usual features of the disease, one was found to have ear-lobe calcification and the other an aortic aneurysm and coarctation of the aorta. Therapy with diphosphonate was apparently successful in one patient.     

婴儿克罗恩病一例

患儿男,1岁3个月,汉族,因肛瘘1年2个月,反复腹泻、肛周脓肿、进行性消瘦10个月,间断发热5个月入院。患儿于生后20d左右出现肛周脓肿,行切开引流术等治疗未痊愈,形成肛瘘。入院前10个月始反复黏液血丝大便,8～12次／d,量不多,有时排便前哭闹,大便常规见红细胞、白细胞、脓细胞,偶见吞噬细胞,按感染性腹泻治疗无好转,出现体重不增、消瘦,反复出现肛周脓肿及瘘道。入院前5个月始伴不规则高热,达40℃,     

Idiopathic infantile arterial calcification: A surviving patient with renal artery stenosis

Idiopathic infantile arterial calcification (IIAC) is a rare hereditary, fatal disease. Death occurs usually within the first 28 months of life. IIAC is characterized by calcifications along the internal elastic membrane and proliferation of the intimal layer of muscular arteries. Specific therapy consists of administration of diphosphonates, but its effectiveness has been a matter of controversy. We report a case treated with diphosphonates which has had an unusual outcome.