Congenital Rubella Syndrome in the Ryukyu Islands: Birth-Weight and Physical Status Before Two Years of Age

Infants and toddlers with congenital rubella syndrome born in the Ryukyu Islands after the 1965 rubella epidemic were re-evaluated in regard to birth-weight and to body length, body weight, and head circumference before two years of age. Cases with cataract (with deafness and with/without congenital heart disease) showed a tendency of lighter birth-weight (excluding the group with low birth-weight) and also poorer physical status than the other cases. In general, an overall percentage of 26.0% were observed to show poorer values than the -2 standard deviation values of the general population before two years of age (20.6% in boys and 12.5% in girls for body length; 36.7% in boys and 41.9% in girls for body weight; and 27.9% in boys and 10.8% in girls for head circumference).     

Two Unusual Cases of Congenital Rubella Syndrome Associated with Acute Myelocytic Leukemia or chilaiditi's Syndrome

In the Ryukyu Islands of Japan, an extensive epidemic of rubella occurred from the end of 1964 until the beginning of 1965. Approximately 400 children with congenital rubella syndrome were born in 1965 [1]. Two boys with unusual associated problems are reported in this paper. One case was complicated with leukemia and the other with Chilaiditi's syndrome.     

Clinical and Laboratory Study of Children Exposed in utero to Maternal Rubella

Clinical and serological findings are described in 218 children aged 1 to 4 years who were exposed in utero to maternal rubella infection, and who were apparently normal at birth. 84 children were reassessed at 6 to 8 years of age. At the first examination, 23% of children had rubella-like defects, the most common of which was deafness associated in some cases with retinopathy. There was a close correlation between the incidence of rubella defects and both the time of exposure to maternal rubella and the presence or absence of rubella antibodies in the blood at the first examination (1 to 4 years). Children who were seropositive and who were exposed to maternal rubella before the 20th week of pregnancy were at highest risk. Of the 84 children who were reassessed at 6 to 8 years of age, further defects were detected in 9 out of the 49 seropositive children. No further defects were encountered in the seronegative group. 17% of initially seropositive children showed loss of antibody by the second examination, but this, with one exception, was confined to normal children with low antibody titres. These findings stress the importance of long-term follow-up in children at greatest risk.     

新生儿先天性心脏病54例

目的 分析新生儿先天性心脏病(CHD)的临床特点,为早期诊断提供依据.方法 收集本院2005年5月- 2010年8月54例CHD患儿.男31例,女23例;胎龄30～41周;出生体质量1200～3920g.分析CHD患儿的病理类型、病史、临床表现和辅助检查等情况.采用心脏彩色多普勒超声诊断仪探查其左心室长轴、大动脉短轴、四腔心(胸骨旁、心尖、剑突下),必要时胸骨上窝探查其主动脉弓,证实其心血管畸形存在.结果 新生儿非发绀型CHD占75.93％,发绀型占24.07％;非发绀型CHD中病理类型共有8种,其中以ASD、PDA和VSD居多;发绀型CHD病理类型有7种,以大动脉转位和法洛四联症较多.临床表现以发绀、呼吸急促、心脏杂音等最为常见.早产儿发绀型CHD发生率为62.50％,足月儿为7.89％,二者比较差异有统计学意义(P＜0.01).结论 新生儿CHD的临床表现不典型,早期诊断较困难,对可疑病例应引起重视,结合辅助检查尽早诊断.     

Bone Ages and Heights in Congenital Rubella Syndrome

Eighty-eight children with congenital rubella syndrome (aged 10 0/12 years to 10 11/12 years) and 73 normal children (aged 9 11/12 years to 11 4/12 years), all born in the Ryukyu Islands of Southern Japan, were assessed for their bone ages and heights. No significancy was noted between the development of the bone ages of the two groups studied, despite a difference between the heights of the two groups.     

Congenital rubella syndrome, hyper-IgM syndrome and autoimmunity in an 18-year-old girl

Congenital rubella syndrome can be associated with disgammaglobulinaemia and autoimmune phenomena in adult and paediatric population. The aim of this article is to present the association between a congenital rubella syndrome with hypogammaglobulinaemia and hyper IgM diagnosed at the age of 8 months and autoimmune manifestations in an 18-year-old girl. A medical chart review of this patient since admission at our institution at 8 months of age was carried out. During infancy she presented the classical manifestations of a rubella syndrome (sensorineural deafness and brain calcifications in basal ganglia) with respiratory and gastrointestinal infections. She was also diagnosed of localised scleroderma and thyroiditis. She has been on intravenous immunoglobulin since diagnosis, with rapid normalisation of IgG and IgM levels, decreased incidence of infectious processes, but with persistent autoimmune phenomena. At 18 years of age she was admitted because of a thyroid mass. Fine needle aspiration biopsy was not conclusive and thyroidectomy was performed. Pathology studies showed no malignancy. She is now on replacement therapy with thyroid hormones. Our aim is to emphasise the importance of the association between autoimmune phenomena in patients with immunodeficiencies, even secondary to some infections, and the increased frequency of malignancies owing to the persistent immunologic defect in this syndrome.     

Congenital rubella syndrome in Western Australia

The birth prevalence of congenital rubella syndrome (CRS) in Western Australia has been around 20 per 10 000 live births with peaks up to 100 per 10 000 in rubella epidemic years. The rate appears to be falling but it is still too soon to know whether the rubella vaccination programme in Western Australia has made a significant impact. The cohorts of young women who would have received the schoolgirl vaccination programme are only now entering the child bearing age groups. Observed falls may be due also to delayed diagnosis particularly of cases of deafness only. The proportion of nonimmune young women who would have been eligible for the programme in one maternity hospital has fallen. This study needs to be repeated to ascertain whether further epidemics of rubella have resulted in peaks of CRS or whether the vaccination programme has started to have an effect.     

A rare combination: persistent ductus arteriosus and pulmonary stenoses. Is there a correlation with rubella embryopathy?

The combination of patent ductus arteriosus, valvular pulmonary stenosis and/or peripheral pulmonary stenosis is very rare. We examined 23 children with this entity. In 9 children there were findings suggestive of rubella syndrome. 17 of the 23 children were born predominantly between October and March. Most of them showed low birth weights. Regarding the cardiac involvement there was no difference between the children with signs of rubella syndrome and those without noncardiac manifestations. In many children the symptoms of the patent ductus are leading. On evaluation of the noninvasive diagnostic procedures the ECG showed often a right ventricular hypertrophy and the x-ray of the chest showed in most cases a cardiac enlargement. In all patients a heart catheterization was necessary to establish the diagnosis. The review of the literature and the interpretation of our findings seems to suggest that the combination of a patent ductus arteriosus with pulmonary stenosis is a typical manifestation of rubella infection in the heart.     

Congenital rubella syndrome in Western Australia

Abstract The birth prevalence of congenital rubella syndrome (CRS) in Western Australia has been around 20 per 10 000 live births with peaks up to 100 per 10 000 in rubella epidemic years. The rate appears to be falling but it is still too soon to know whether the rubella vaccination programme in Western Australia has made a significant impact. The cohorts of young women who would have received the schoolgirl vaccination programme are only now entering the child bearing age groups. Observed falls may be due also to delayed diagnosis particularly of cases of deafness only. The proportion of nonimmune young women who would have been eligible for the programme in one maternity hospital has fallen.
This study needs to be repeated to ascertain whether further epidemics of rubella have resulted in peaks of CRS or whether the vaccination programme has started to have an effect.     

儿童紫癜性肾炎临床与病理相关性分析

目的：通过对95例紫癜性肾炎（HSPN）患儿临床表现及肾脏病理分析,阐明其临床及病理之间的联系。方法：对HSPN患儿进行临床分型及病理分级,对其进行综合分析。结果：①临床分型以肾病综合征型(27.4%)、蛋白尿＋血尿型(24.2%)多见,病理分级以Ⅲb(42.1%)最多见;②尿检正常者可见肾脏病理改变。尿检正常型、孤立性血尿或蛋白尿型以及血尿和蛋白尿型病理改变差异无显著性(P>0.05);③孤立性血尿或蛋白尿型以及血尿和蛋白尿型病例,病程越长病理分级也越重(P＜0.05);④免疫复合物沉积以IgA+IgG+IgM（58%)同时存在比例最高;病理分级越重,病程越短,IgA+IgG+IgM比例越高。结论：HSPN患儿临床表现为肾病综合征和肾炎型者病理改变相对较重,临床症状与病理不一定平行,尿检正常者病理改变也很明显,病程越长,病理改变呈加重趋势。免疫复合物沉积为IgA+IgG+IgM的病理改变相对较重。［中国当代儿科杂志,2007,9（2）：129-132］     

儿童Leigh综合征4例临床分析

目的探讨儿童Leigh综合征的临床表现、诊断及预后。方法回顾性分析4例通过基因检测确诊的Leigh综合征患儿临床资料,并复习相关文献。结果 4例患儿中,男3例、女1例,其中3例婴幼儿起病、1例学龄期起病,主要表现为智力运动发育落后、肌张力低下、惊厥、喂养困难、眼睑下垂、眼外肌麻痹及眼球震颤、易惊、活动不耐受等。头颅MRI,脑干、双侧苍白球、丘脑、小脑齿状核、中脑导水管周围对称性长T1长T2异常信号;其中累及中脑3例、丘脑1例、小脑齿状核1例;2例提示脑萎缩。肌电图检查均正常。血、脑脊液乳酸均增高。线粒体DNA(mt DNA)检测,1例为mt DNA 8993 TG突变,其余3例mt DNA9176 TC突变。学龄期起病患儿发病1月后死于呼吸衰竭,另3例仍在随访中,有智力运动发育落后,但无明显倒退。结论儿童Leigh综合征临床表现多样,诊断主要依靠典型临床表现及MRI、血和/或脑脊液乳酸水平升高为依据,基因检测为诊断金标准。     

Wolfram syndrome. Clinical and genetic study in two families

Wolfram syndrome (WS), also known as DIDMOAD (due to its association with diabetes insipidus, diabetes mellitus, optic atrophy and deafness), is an infrequent cause of diabetes mellitus. This syndrome is included among the genetic disorders associated with diabetes in the American Diabetes Association's classification. WS is an autosomal recessive neurodegenerative disease characterized by various clinical manifestations such as diabetes mellitus, optic atrophy, diabetes insipidus, deafness, neurological symptoms, renal tract abnormalities, psychiatric disorders and gonadal disorders. The most frequent of these disorders is early onset diabetes mellitus, with a low prevalence of ketoacidosis, and optic atrophy, which is considered a key diagnostic criterion in this syndrome. Diabetes insipidus usually develops later. This syndrome manifests in childhood, hampering diagnosis and treatment. Morbidity and mortality are high and quality of life is impaired due to neurological and urological complications. This article describes the clinical characteristics and outcome in three patients with WS. All three patients had antecedents of consanguinity. Genetic study was performed in all patients. One was homozygotic for the WFS1 gene that encodes the WFS1 G736A mutation in exon 8 and the remaining two patients, who were siblings, were homozygotic for the 425ins16 mutation in exon 4.     

Recent Implications of Intrauterine and Postnatal Rubella

Many new facets of rubella virus infection, both natural and congenital, have been recently exposed. In its intrauterine role, the virus is curiously selective and it is possible that the genes of the fetus are important in determining both the occurrence and severity of infection. The risk to the fetus is highest if infection occurs in early pregnancy, but there is some risk up to 24 weeks gestation. Multiplicity of defects and chronic persistence of fetal infection are characteristic features of congenital rubella infection. The clinical manifestations, diagnosis and management of congenital rubella are discussed, with emphasis on the long term sequelae. Postnatal rubella may be difficult to diagnose, since many cases are subclinical and history is unreliable:— serological diagnosis is therefore critical during pregnancy. Vaccination programmes designed to prevent congenital rubella are evaluated; while these show promise, the ideal vaccine is yet to become available.     

麻疹感染的临床特征及诊断

目的研究广泛麻疹疫苗接种后儿童麻疹的临床特点及诊断。方法研究对象来自2001年4～7月我院隔离门诊的可疑麻疹病例。所有病例就诊时静脉采集全血2.0 mL,分离血清,-20℃保存。用间接ELISA方法检测血清麻疹IgM抗体.若麻疹IgM抗体阴性,同时检测风疹IgM抗体。结果本文共收集85份临床可疑病例,男56例,女29例;年龄46 d～8个月13例.>8个月72例。85份血清麻疹抗体IgM阳性44例,阳性率51.76%,其中年龄46 d～8个月10例,占22 7%;>8个月34例,占77.3%。41份麻疹IgM阴性血清中检测风疹IgM,阳性9例,阳性率为21.95%:占总病例的10. 59%.麻疹和风疹皆阴性32例,占37.65%。麻疹44例中,出疹前发热<3 d 28例(63.6%),≥3 d为16例(36.4%);有Koplik斑35例; 95.5%麻疹病例有结膜炎。风疹9例中,出疹前发热<3 d 8例(89.9%).≥3 d 1例(11.1%):全部风疹病例无Koplik斑;而22.2%风疹病例有结膜炎。结论小儿麻疹的发病年龄及临床表现己发生变化,单凭临床特征易造成较多的漏诊和误诊,血清麻疹IgM抗体检测麻疹病例实用、特异、敏感。     

Acute renal failure in Reye's syndrome.

Three patients with initial clinical manifestations and biochemical findings suggestive of a diagnosis of Reye's syndrome had acute renal insufficiency develop and had evidence of consumptive coagulopathy, not generally considered features of the syndrome. As a group, they could not be distinguished, either on the basis of their clinical manifestations or liver pathologic findings, from the 17 patients with Reye's syndrome without renal failure seen in our institution during the same period of time. The use of osmotic diuretics in an effort to decrease cerebral edema may be life threatening in these patients with compromised renal function since hypervolemia, cardiac failure, and worsening of cerebral edema may occur.     

35-year measles, mumps, rubella vaccination assessment in France]

AIM: The setting-up and the follow-up of a vaccination programme require important human and economical investments. Our study objective consists of the clinical benefit evaluation given by measles, mumps and rubella (MMR) vaccination since monovalent and combined vaccines availability (35 years for measles, 30 years for rubella and 20 years for mumps). METHOD: Vaccination impact has been evaluated from the modelisation for each disease under the shape of a decision tree relying on epidemiological data and on efficacy data of the vaccines. We have compared the results in terms of complications, sequaela, deaths in the vaccinated population (vaccination period) with the results that we would obtain if this same population had not been vaccinated (non vaccination period). The general model was applied to each of the three diseases excluding congenital rubella syndrome. They have been modelised according to the occurrence, or not, of a complication leading to an evolution towards either recovery or sequaela or death. The estimation of the number of avoided congenital rubella syndromes has been made from the number of protected women by vaccination and incidence figures of congenital rubella syndromes reported in the population considered before and after vaccination. RESULTS: In France over the period of time considered, almost 2 million meningitis, 60 000 encephalitis, 170 subacute sclerosis panencephalitis and more than 5600 neurological sequaela including more than 600 deafness cases have been avoided as a result of the MMR vaccination programme. Moreover, 590 000 pneumonia, more than one million of acute otitis media and 300 000 orchitis, 3000 rubella infection cases occurring during pregnancy have also been avoided. Overall, more than 12 000 deaths that have been avoided as a result of the MMR vaccination. CONCLUSIONS: In France, MMR vaccination programme leads to a huge benefit in terms of public health, which emphasises the true value of vaccination in the daily medical practice.     

Unilateral agenesis of the internal carotid artery in CHARGE syndrome

CHARGE syndrome is a multisystemic disorder comprising colobomas, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies and deafness. The CHD7 gene on chromosome 8q12.1 was recently shown to be a major gene involved in the etiology of this syndrome. We describe a girl with CHARGE syndrome who had a novel mutation of CHD7 associated with agenesis of the left internal carotid artery. She had presented with recurrent episodes of photophobia and vomiting since the age of 6 years. Since her symptoms were well controlled by cyproheptadine, migraine-like attacks were considered. CHD7 molecular confirmation in this patient provides further evidence to support the occurrence of a vascular anomaly suggested from animal models of CHARGE syndrome with molecular delineation. We report this case to emphasize the importance of neurologic signs of photophobia and to highlight the broad clinical variability in this pleiotropic disorder.     

Alport综合征的诊治研究进展

Alport综合征(Alport syndrome,AS)是一种以血尿、进行性肾功能减退,常伴有神经性耳聋和眼部病变为临床特征的遗传性肾小球基底膜疾病,其发病机制为编码Ⅳ型胶原基因突变.AS的诊断需结合临床表现、肾脏病理改变和免疫荧光学检查及基因诊断等方面综合判断.目前AS尚无根治措施.随着AS发病机制的不断明确,基因...