共济失调毛细血管扩张症1例

患儿 ,女 ,7岁 6个月 ,因行走不稳 6年余入院。患儿 1岁 2个月时出现行走为急步向前冲 ,易摔跤 ,至今行走时欠稳 ,两脚距离较宽 ,独站不久。平时易感冒 ,至少每月 1次。家族中无类似患者 ,有 1个胞弟已 2岁 ,身体健康。查体 :面部表情不丰富 ,双面颊可见少许毛细血管扩张 ,以右     

STAT1变异致慢性皮肤黏膜念珠菌病继发血液系统侵害1例

<正>1病例资料患儿,女,13岁,主因"反复皮疹,口腔白膜10年余,生长发育迟缓9年余,血红蛋白减少6月余"于2017年9月在郑州大学第一附属医院儿科就诊。10年前患儿无明显诱因出现双侧颊黏膜及舌上白色膜状物,伴颜面部红疹,9年前家属发现患儿身材较同龄、同性别儿童矮小,6个月余前患儿双侧颊黏膜及舌上白色膜状物加重,颜面部出现大疱样疱疹,渐结硬性污褐色厚痂,并出现血红蛋白降低,就诊于多家医院,经激素治疗及输注成分血后,血红蛋白可上升,停药后又回降。患儿父母非近亲结婚,患儿系第1胎第1产,双胎之大,剖宫产,按     

球形细胞脑白质营养不良一例

患儿,男,5岁,因"视物不清及右眼外斜半年、走路不稳4个月"入院.患儿半年前无诱因出现视物不清,右眼外斜视,无眼球震颤、幻视等.4个月前开始出现双腿行走吃力,走路不稳,渐发展至不能独立行走,需家人搀扶,双上肢无力持物,后逐渐表现为不能随意屈曲,智力、语言无明显改变.     

郎格罕细胞组织细胞增生症误诊一例

患儿男 ,3岁。因全身皮肤反复出现皮疹 ,黄染 1年余入院。患儿于 1年前腹部皮肤首先出现暗红色斑丘疹 ,后蔓延至胸、背、头、颈、四肢皮肤 ,皮疹逐渐增多 ,并出血、渗液、结痂 ,伴瘙痒。同时皮肤出现黄染 ,逐渐加重 ,尿色深黄 ,口唇苍白。曾到省级某医院诊治 ,发现肝脾肿大 ,Ｂ超可见胆管扩张 ,诊断“先天性胆管囊肿扩张” ,经抗感染、护肝治疗后 ,皮疹 ,黄染未减轻 ,拟手术治疗 ,因经济原因未果。出院后皮疹再度加重 ,乃到某大学附属医院就诊 ,诊断“湿疹” ,治疗无效。此后 ,1年来 ,全身皮疹间断成批再现 ,皮肤黄染波动 ,持续未退。腹部逐…     

线粒体脑肌病伴乳酸酸中毒及卒中样发作综合征并发心律失常一例

患儿,男,14岁,因“反复抽搐8年余,再发半天”入院。患儿从8年前在呕吐后出现抽搐,表现为强直阵挛样发作,持续约数分钟到半小时,约4~6次/年,6年前出现2次肢体瘫痪,分别表现为右侧肢体瘫痪,站立不稳,行走不能和左侧肢体瘫痪伴抖动,2次均行MRI检查,分别提示为“左侧顶叶异常信号,脑室扩大,小脑萎缩(图1)”和“右侧枕叶病变,小脑萎缩(图2)”,2次均经改善微循环、营养脑细胞、对症处理后好转;6年前在北京中国人民解放军总医院就诊,查“血乳酸9．98 mmol/L(静止),12 mmol/L (运动后);肌活检提示：Gomori 染色可见大量典型的 RRF (破碎红纤维);mtDNA筛查提示A3243 G突变,突变率59%(图3);心脏彩超：左室前后径41 mm,室间隔厚度6 mm,左室后壁厚度6 mm, EF 66%, FS 36%,心脏结构及功能未见明显异常”,诊断为“线粒体脑肌病(乳酸酸中毒及卒中样发作综合征, MELAS综合征)”,予“左乙拉西坦,奥卡西平,辅酶Q10,左卡尼汀”等治疗后出院,后反复出现抽搐,近1年来发作频繁,10余次/年。家属述近1年来患儿走路明显不稳,口齿不清,不能认人,听力下降,半天前再次出现抽搐,发作频繁共10余次,每次持续约1~2 min,间歇期神志不清,急诊入院。既往史、出生史、生长发育史无特殊。     

以反复腹水为表现的小儿嗜酸细胞性胃肠炎1例

<正>患儿女,3岁10个月。因反复腹胀、呕吐伴腹部膨隆1月余入院。入院前1月余,患儿口服驱虫药"安乐士"2片,服药第2天大腿内侧即出现风团块样皮疹,伴有瘙痒,随后出现腹胀、呕吐,呕吐为胃内容物,3～4 d后皮疹及呕吐缓解,发现右下腹股     

Tolosa-Hunt综合征伴急性小脑共济失调1例

患儿女 ,5岁。因头痛呕吐 ,行走不稳 12h ,于 2 0 0 4年 4月入院。患儿 12h前晨起后出现头痛 ,以眼部及前额为主 ,呈持续性钝痛 ,伴呕吐 3次 ,非喷射状。行走、站立不稳。无发热、视物模糊、惊厥。患儿 2周前有上呼吸道感染病史。入院查体 :体温 36 8℃ ,呼吸 2 6 /min ,脉搏 98/min ,血压12 0 / 7 0kPa ,体重 2 1kg ;神志清 ,精神萎靡 ,反应迟钝 ,行走、站立不稳。无皮疹、出血点 ,浅表淋巴结无肿大。双眼睑结膜充血 ,眼球水平震颤 ,双侧瞳孔等大正圆 ,对光反射存在 ,视力正常 ,眼底未见异常。颈软 ,无抵抗感 ,双肺呼吸音略粗 ,未闻及 …     

慢性血行播散性结核病一例

患儿男,4岁7个月.因气促、多处骨关节疼痛、畸形2年余,皮疹1年余入院.入院前2年余出现气促,无发热、咳嗽、发绀等.全身多处关节疼痛,大小关节均累及,伴有皮肤瘙痒,后双膝关节渐肿胀,以右侧为甚,右膝关节活动渐受限.1年余前,左手背部、双手小拇指渐肿胀,出现红色斑丘疹,融合成片,继之出现疱疹,伴瘙痒,无疼痛,疱疹破溃后有黄色清亮液体,结痂后形成瘢痕.类似皮疹先后出现于左侧肘部伸侧面、鼻部、左耳、胸壁.前胸壁渐隆起,气促加重.     

以罕见皮损为主要表现的小儿非霍奇金淋巴瘤一例

患儿男 ,8岁。主因反复发热皮疹 4年 ,发现脾大半年入院。患儿于 4年前无明显诱因颜面部反复起皮疹 ,为红色丘疹 ,不痛不痒 ,压之褪色。用抗生素、地塞米松治疗后可消退 ,不留痕迹。以后皮疹渐扩展至四肢和躯干 ,主要分布在面部及前臂伸侧暴露部位 ,与季节及日晒无关。 1年前又出皮疹 ,初为红色丘疹 ,后转为脓疱样 ,渐转为结疤性色素沉着 ,消退后遗留凹陷性疤痕。每次出现皮疹均伴发热。半年前于当地发现脾大。外院曾行皮肤活检未能确诊。既往个人、家族史无特殊。体检 :一般情况好 ,颜面及耳后散在结疤性皮疹 ,躯干见成簇红色丘疹。面部、…     

以肺出血为首发症状的儿童系统性红斑狼疮一例

患儿女,12岁。因“反复发热、头痛、咯血2年余,伴尿异常1年,加重6天”于2004年12月30日入院。2年前无明显诱因出现发热、头痛、咯血,为鲜红色,伴黑便,无鼻衄及皮疹,无关节肿疼,以“贫血原因待查”于2003年1月21日第一次入院,多次痰液和胃液均查到吞噬含铁血黄素颗粒的巨噬细胞,胸片示云絮状浸润阴影,诊断为肺含铁血黄素沉着症,继发性贫血、食管溃疡、浅表性胃炎,给予止血、补血、补液及激素治疗34天好转出院。出院后病情曾反复发作2次,继续给予泼尼松及补血药物口服好转。1年前又因反复发热、咯血、头痛伴蛋白尿再次人院。查尿常规蛋白（＋）,     

Calcification in a Deflux bleb thought to be a ureteral calculus in a child

A child admitted for abdominal pain was evaluated with an abdominal computed tomography scan. Calcification was noted at the ureterovesical junction. The child had undergone successful bilateral Deflux injection 3 years earlier. No hydronephrosis was noted and an intravenous pyelogram was normal. Ureteroscopy revealed no intraluminal stones, and a follow-up scan showed the lesion to be still present and unchanged. This case illustrates that calcifications within a Deflux bleb can be mistaken for a ureteral calculus, and the entire clinical picture should be kept in mind when evaluating a patient with abdominal pain. Due to the widespread use of Deflux to treat vesicoureteral reflux, this phenomenon may be seen more frequently as this population ages.     

Adenovirus 7a: a community-acquired outbreak in a children's hospital

BACKGROUND: Adenoviruses produce many illnesses in children, particularly respiratory and gastrointestinal disease. The most common adenoviral respiratory infections in children are caused by types 1, 2, 3 and 5. Adenoviruses spread rapidly in closed environments often causing epidemic disease. Serotype 7a has been responsible for outbreaks of respiratory disease in children living in close proximity with one another. This report describes a large community-acquired adenovirus 7a epidemic in hospitalized children. METHODS: Evaluation of all patients with cultures positive for adenovirus from a children's hospital-based virology laboratory during a recognized adenovirus outbreak. All such adenovirus isolates were typed, and patients with adenovirus 7a are described by review of medical records. RESULTS: Between March 1 and July 26, 1997, 47 children admitted to the hospital were identified as infected with adenovirus. Of these 47 patients 26 (55%) were infected with adenovirus 7a. Twenty-four (92%) infections were community-acquired. The age range was 11 days to 10 years with a median of 9.5 months. Twenty-two patients (84%) had respiratory symptoms, and 21 (8%) had fever, making these the most common symptoms. The mean durations of fever and hospitalization were 5.5 and 7 days, respectively. One of 26 patients died. CONCLUSIONS: Adenovirus 7a can cause large community epidemics affecting children. The disease produced by adenovirus 7a in children is almost exclusively of the respiratory tract, and in some individuals it may be very severe and possibly fatal.     

Repair of a canalicular laceration in a neonate

A neonate with lower eyelid and corresponding canalicular laceration of the left eye was examined 2 hours after birth. The eyelid and canalicular laceration were repaired with a short, 24-gauge catheter as the stent. The laceration healed with minimal scarring, and the epiphora had disappeared by the 12-month follow-up visit.     

Haemorrhage from a duodenal ulcer in a neonate

A 7-week-old boy born at 32 weeks' gestation developed massive upper gastrointestinal bleeding from a duodenal ulcer. The base of the ulcer had eroded into the hepatic artery. Haemorrhage was only controlled following operation.     

Ulceroglandular tularemia in a toddler in Germany after a mosquito bite

Introduction  Although tularemia is a long-known disease, its significance had diminished over the last decades in Middle Europe. However, over the past years, there is new evidence suggesting that tularemia has re-emerged in Germany. In 2007, the highest number of human cases for almost 50 years has been notified. Beside typical vectors, new ways of transmission seem to gain significance. So far, mosquito bite-transmitted tularemia has only been known from Scandinavia but not from Middle Europe. Case report  We report the first case of a 1-year-old toddler from Southwestern Germany with mosquito bite-associated ulceroglandular tularaemia. The new and interesting features of this case are the young age of the patient and the unusual transmission route. The available data suggesting changes in the epidemiology for tularemia in Germany are reviewed. This is an interesting case of infantile tularemia with a very unusual transmission route, highlighting ongoing changes in the epidemiology of tularemia in Germany.