婴儿型戈谢病1例报告

戈谢病（Gaucher’s disease）临床少见,本院十多年来仅见1例。现报告如下。     

戈谢病1例报告

临床资料 患儿,男,6个月。因咳喘45d,呼吸不规则7h入院。患儿45d来因“吸人性肺炎”,先后在外院住院4次,给予输液治疗,咳喘仍迁延不愈,7h前在喂奶时发生呛咳、窒息,在当地经抢救后,仍呼吸不规则急来我院。既往史：患儿于生后即出现吸气性喉鸣,且生后20d出现哭声无力,眼球运动不灵活,经常向上斜视。渐发现患儿吃奶时吞咽动作不协调。经常呈头后仰体位。查体：T36．7℃,P168次／min,R38次／min,体重7kg。SpO2 76％。生长发育落后,身材矮小,不会独坐,易激惹。头后仰,眼球向上斜视,口唇发绀,鼻扇。三凹征明显,间断喉痉挛发作,喉鸣明显。全身皮肤粗糙,皮下脂肪菲薄,弹性差。     

戈谢病1例

<正>患儿男,12岁,因间断鼻出血、肝脾肿大6年入院。患儿间断鼻出血每年10余次,自行压迫可止血。肝脾无痛性进行性增大,除乏力外无其他明显伴随症状,无智力障碍及黄疸,但发育落后。经多家医院多次诊治效果欠佳,曾做骨髓细胞学检查,诊断为慢性血小板减少性紫癜,治疗后病情无缓解,仍间     

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     

Ⅱ型高脂蛋白血症1例报告

Ⅱ型高脂蛋白血症(Hyperlipoproteinemia)又称原发性家族性高胆固醇血症、家族性高胆固醇血症黄色瘤病。现将我科1983年所见一例报告如下。江某,男孩,7岁。因两耳后、肘、膝等处发生黄色结节肿物4年,于1983年9月13日来诊。患儿     

婴儿Chiari畸形Ⅱ型1例报告

目的分析婴儿Chiari畸形Ⅱ型的临床资料,加深儿科医师的认识。方法回顾性分析1例确诊为Chiari畸形Ⅱ型患儿的临床、实验室、影像学资料,并复习相关文献。结果患儿,男,2个月,因颈部肿物2个月入院。颅脑MRI示小脑扁桃体部分疝入枕骨大孔。予手术治疗后一直间断发热,不能竖头、独坐,前囟门进行性增大,CT诊断脑积水。结论 Chiari畸形Ⅱ型会导致神经功能异常,预后差,病死率高;早期诊断,积极手术,可改善预后。     

酶制剂Cerezyme治疗戈谢病14例报告

1999年 5月以来 ,我们对 34例戈谢病 (ＧＤ)患儿进行了酶制剂Ｃｅｒｅｚｙｍｅ的替代治疗 ,现将治疗 12个月以上的 14例总结如下。对象本组 14例患儿 ,男 12例 ,女 2例 ;年龄 1岁 3个月～ 14岁 ,均符合戈谢病的诊断标准 ,并有 β 葡糖脑苷脂酶测定证据。其中Ｉ型 12例 ,ＩＩＩ型 2例 (无神经系统症状 ,仅脑电图有异常慢波或棘波 )。患儿来自 7个不同省市 ,其中 4例的两兄弟同时接受治疗。方法将Ｃｅｒｅｚｙｍｅ 6 0ＩＵ/ｋｇ ,加入 0 9%ＮａＣｌ2 0 0ｍｌ中 ,每 2周静脉点滴 1次。用酶制剂前检测血常规、血小板 ;每 3个月检测肝功能、酸性…     

家族性高脂血症Ⅱ_A型1例报告

男,9岁,因双肘部、骶尾部出现黄色肿物4年于1988年5月入院。患儿5岁时左肘部出现绿豆大淡黄色结节,继之右肘、骶骨下相继出现类似结节并逐渐增大。黄色日益加深,无任何不适感。体检:营养发育中等,双尺骨鹰嘴部各有2×2.5cm、骶尾骨     

戈谢病Ⅲ型同胞患儿临床及GBA基因突变分析

目的 探讨戈谢病Ⅲ型的临床表现、脑电图特点及致病基因突变.方法 分析戈谢病Ⅲ型-家系中姐弟2例同胞患儿的临床资料,以及采用PCR-直接测序方法检测的患儿及其父母外周血白细胞β-葡糖苷酶GBA基因结果.结果 先证者,弟弟,9岁,肝脾显著肿大,血小板减少(68×109/L),无神经系统症状,智力、运动正常,脑电图异常,醒睡各期广泛性中低波幅棘慢波、多棘慢波频繁阵发,清醒期放电明显.白细胞β-葡糖苷酶活性显著降低(1.5 nmol·h-1·mg-1 Pr),符合戈谢病Ⅲ型.姐姐,12岁,自7岁起反复癫痫发作,呈强直阵挛、肌阵挛表现,多种抗癫痫药物治疗效果差,伴语言、智力、运动倒退,病情进行性加重,肝肋下2.5 cm,脾脏无肿大,脑电图显示多灶异常放电,并频繁泛化全导,白细胞β-葡糖苷酶活性亦显著降低(1.8 nmol·h-1·mg-1 Pr).两例患儿的GBA基因突变相同,为c.680A>G(p.N188S)/ c.1342G>C(p.D409H),分别来自其父母.结论 两例同胞患儿具有相同的基因突变,但临床表现差异显著,可能随着病情进展症状加重.戈谢病Ⅲ型为慢性神经病变型,以神经系统症状如癫痫发作、肌阵挛等为主要表现起病,肝脾肿大及脾功能亢进可不显著.     

Neonatal cholestasis and infantile Gaucher disease: a case report

AIM: To report on clinical complications of liver disease occurring during Gaucher disease. METHODS: A case of Gaucher disease was revealed by neonatal cholestasis and early onset of portal hypertension. RESULTS: At 7 d of age, a newborn was admitted for cholestasis associated with hepatosplenomegaly and thrombocytopenia. At that time, bone marrow aspirate and liver biopsy did not reveal any engorged cells. The clinical course was marked by early progressive portal hypertension, and the patient died of uncontrollable upper gastrointestinal bleeding. The histological results of the postmortem showed that Gaucher cells were present in the liver, spleen and bone marrow. The diagnosis was confirmed by enzymatic studies. CONCLUSION: Isolated neonatal cholestasis could be the first sign of Gaucher disease. Gaucher disease should always be considered in such circumstances, even if, initially, the bone marrow aspirate and liver biopsy do not reveal any engorged cells.     

Subdural empyema in a case of Gaucher disease: a rare presentation

Subdural empyema is a surgical emergency; if not recognized and managed early, it may prove fatal. In most of the cases, condition is preceded by paranasal sinusitis, otitis media or trauma. The authors report a previously undescribed case of spontaneous subdural empyema associated with Gaucher disease that had a good outcome following burr hole evacuation of subdural empyema and parenteral antibiotics. Patients with Gaucher disease may be vulnerable to severe bacterial infections, due to defective function of phagocytic cells and hypersplenism.     

Devic disease: a case report

OBJECTIVE: To report a case of Devic disease, emphasizing its diagnosis, in addition to reviewing the medical literature. DESCRIPTION: Male, six-year-old patient suddenly developed weakness in lower limbs, with resolution during hospital stay. However, as the weakness disappeared, loss of vision occurred. The symptoms were reverted after the use of prednisone. COMMENTS: The diagnostic and therapeutic approach was similar to that used in other cases reported by different reference centers. In other words, clinical diagnosis and prednisone therapy were used, with the complete improvement of symptoms. However, there is still some controversy surrounding its etiology and relationship with other demyelinating diseases, such as multiple sclerosis.     

Type II hyperprolinemia: a case report

Hyperprolinemia type II (HP II) is a rare inherited metabolic disease due to the deficiency of pyroline-5-carboxylate dehydrogenase. It is generally believed to be a benign condition although some patients have neurological problems such as refractory convulsions. Here we report a six-year-old girl with HP II who admitted to our hospital with recurrent seizure refractory to multiple antiepileptic drugs. She was the third child of healthy, consanguineous parents. The family history was negative for neurological and renal disorders. On physical examination, she had no facial dysmorphy; the anthropometric measurements, and systemic and neurological examinations were normal. Mental and motor development was appropriate for her age. Laboratory findings revealed elevated levels of proline, glycine, and ornithine in serum and pyrroline-5-carboxylate and hydroxyproline in urine. Cerebral computerized tomography and magnetic resonance imaging were both normal. Electroencephalogram showed a very active epileptic abnormality; partial control of seizures was achieved by two antiepileptics. Increased plasma glycine and ornithine levels are the unique features of our case when compared to the other HP II cases reported in the literature.     

An autopsy case of fetal Gaucher disease

Abstract Background : A case of fetal form of Gaucher disease in a Japanese fetus is presented.
Results : A macerated baby showing hydrops fetalis was dissected at 29 weeks of gestation. The fetus was heavier in the body, liver and spleen than a normal fetus at the same gestation period. It also suffered from pericardial effusion and ascites. The diagnosis of Gaucher disease was made by histological and biochemical findings. In microscopical examinations 'Gaucher cells', which were periodic acid-Shiff (PAS)-positive, alcian blue-positive and CD68-positive. existed in the lungs, liver, spleen, thymus, adrenal glands, bone mafrow and brain. In thin layer chromatography, a large quantity of glucocerebroside was seen to have accumulated in the patient's organs.     

血管性血友病一例

患儿女,4岁。以反复皮肤粘膜出血3年入院。3年前因进食不慎将唇系带刮破,出血不止,3d后到当地医院就诊,检查血红蛋白80g／L,诊断为“血小板无力症”,给予全血100ml和云南白药局部压迫,出血止。2个月前患儿于剧烈运动后出现鼻衄,经鼻腔填塞后仍有少量渗血。检查血红蛋白为65g／L,予冷沉淀物1个单位和全血200ml后出血止。患儿平素易鼻衄,双下肢轻微外伤后易出现皮肤青紫及瘀斑,稍突出皮肤,10余天后消退。     

Tay-Sachs disease: a case report]

After an infection of the respiratory tract at the age of one a male infant showed progressive mental and physical retardation. Outstanding signs (e.g. baby doll face, startle reaction and frog position) as well as results of special investigations (cherry red spots of the maculae, short tubular bones) were suspicious for the presence of a lipidstorage disease, that could be identified as Tay-Sachs disease because of absent hexosaminidase A-activity in the patient's serum. Inspite the very low incidence of Tay-Sachs disease in our population, compared with a frequency of 1: 1200 in Ashkenzi Jews, the importance of establishing a diagnosis, based on typical clinical features and biochemical results, has to be emphasized. Genetic consultation is the only point of influence in positive family history, for attempts of causal therapy are not successful at present.     

儿童Kimura病一例

患儿,男,3岁,因"发现左腋下肿块2个月"于2008年7月29日拟诊"淋巴结炎、Kimura病?"收住我院儿科.入院2个月前患儿父母无意间发现患儿左腋下肿物,为黄豆大小,局部皮肤颜色正常,无疼痛,无流脓,不伴发热,来我院门诊拟"淋巴结炎"予阿莫西林、头孢克洛等口服,肿块进行性增大至鸽子蛋大小,头颈及双下肢出现红色斑疹块,伴皮肤瘙痒,无疼痛,无皮肤色素沉着,无皮肤瘀点、瘀斑,无发热,无消瘦,无关节肿痛.查体:直肠温度37.6℃,呼吸30次/min,心率124次/min,神志清,精神可,发育中等,营养欠佳,头颈及双下肢可见少许红色斑疹块,最大约2 cm×2 cm,压之褪色.