Bart's syndrome: a mechanobullous disease of the newborn. Report of five cases and review

Bart's syndrome is one among the lesser known presentations of epidermolysis bullosa. It is characterized by congenital localized bullae of skin and mucous membranes sometimes associated with nail deformities, all of which disappear during the neonatal period. Early recognition allows for avoidance of inappropriate systemic or local therapy.     

Congenital Portosystemic Venous Shunt in a Preterm Rh-Isoimmunized Infant

The authors report a preterm infant with Rh-isoimmunization, who had persistent hepato-splenomegaly with conjugated hyperbilirubinemia, transaminitis, and hyperammonemia. Ultrasound abdomen revealed an intrahepatic portosystemic venous shunt (PSVS). The child was managed conservatively. On follow up at 2.4 y of age, the child is having normal growth and development, but with persisting shunt. Severe Rh-isoimmunisation in a neonate can sometimes share some of the features of congenital PSVS and delay the diagnosis of the latter. The index case had shunt ratio >80 % during the neonatal period but did not require any intervention.     

Surgery for Aortic Arch Disease in the Neonate

Disease of the aortic arch is a common component of congenital heart disease requiring surgical treatment in the neonate. While sometimes found in isolation, aortic arch disease must be placed into the larger context of frequently associated pathology. This review describes the anatomic variations of neonatal aortic arch pathology, surgical approaches and techniques, and expected outcomes.     

Balloon tracheoplasty as initial treatment for neonates with symptomatic congenital tracheal stenosis

Neonates with congenital tracheal stenosis (CTS) sometimes develop respiratory distress and may be difficult to intubate. We used balloon tracheoplasty with a rigid bronchoscope for emergency airway management in neonates with symptomatic CTS. Herein, we describe the balloon tracheoplasty procedure and the early outcomes following its use as the initial treatment of neonatal symptomatic CTS. We performed a retrospective analysis of five neonates with CTS who were initially treated with balloon tracheoplasty at our institution from January 2010 to December 2013. Five patients with a mean birthweight of 2,117 g were treated during the study period. Of these, four developed respiratory distress after birth, and all patients had difficult intubations. In all five patients, definitive diagnosis of CTS was made by rigid bronchoscopy and 3-dimensional reconstruction scan. A total of nine balloon dilatations were performed in five patients. Following balloon tracheoplasty, two patients were extubated, one was extubated after resection and end-to-end anastomosis following initial balloon dilatation, and one remained hospitalized with tracheostomy for tracheomalacia. The remaining patient died from tracheal bleeding associated with congenital heart disease. Although our sample size was small, balloon tracheoplasty is a potentially effective initial treatment for selected cases with neonatal symptomatic CTS.     

Presentation of congenital heart disease in infancy: implications for routine examination.

AIM: To investigate the performance of routine neonatal and 6 week examinations for detecting congenital heart disease. METHODS: A retrospective review of findings on clinical examination was conducted of a cohort of live born infants with congenital heart disease in one health region in 1987-94. RESULTS: Of 1590 babies with congenital heart disease, 523 (33%) presented before neonatal examination because of symptoms or non-cardiac abnormalities. 1061 underwent routine neonatal examination which was abnormal in 476 (45%), but only 170 were referred directly for diagnosis. Of 876 discharged with no diagnosis, 306 presented or died undiagnosed before 6 weeks. At 6 weeks 252 of 569 babies underwent a second routine examination which was abnormal in 164 (65%). CONCLUSIONS: Routine neonatal examination fails to detect more than half of babies with heart disease; examination at 6 weeks misses one third. A normal examination does not exclude heart disease. Babies with murmurs at neonatal or 6 week examinations should be referred for early paediatric cardiological evaluation which will result either in a definitive diagnosis of congenital heart disease or in authoritative reassurance of normal cardiac anatomy and function.     

Congenital and neonatal varicella in Australia

OBJECTIVE: To establish the incidence and severity of congenital and neonatal varicella in Australia. METHODOLOGY: Demographic and clinical details were obtained by postal questionnaire regarding cases notified to the Australian Paediatric Surveillance Unit by over 930 participating clinicians in 1995-97 inclusive. RESULTS: Seven cases of congenital varicella (1: 107 000 pregnancies/year) followed maternal infection at 8-26 weeks: five had defects, two did not. Four of the seven infants with congenital varicella developed herpes zoster in the first 15 months of life. Forty-four infants had neonatal varicella (1: 17 000 pregnancies/year). CONCLUSION:: There is an ongoing, albeit low, incidence of congenital and neonatal varicella in Australia.     

Neonatal cardiac multidetector row CT: why and how we do it

Neonatal congenital heart disease is a most difficult area of diagnostic radiology because of the small patient body size and fast resting heart rate. Recently, the spatial and temporal resolution of multidetector-row CT (MDCT) has evolved so that neonatal congenital heart disease can be precisely diagnosed. We describe the role of MDCT in neonatal congenital heart disease and offer tips for the scanning procedure to familiarize radiologists with this developing field. Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users.     

Control of congenital infection with Toxoplasma gondii by neonatal screening based on detection of specific immunoglobulin M antibodies eluted from phenylketonuria filter-paper blood-spot samples

Two ongoing neonatal screening programmes for congenital infection with Toxoplasma gondii are presented. The New England Newborn Screening Programme has included congenital toxoplasmosis since 1986. The test is based on detection of Toxoplasma-specific immunoglobulin M (IgM) antibodies eluted from the phenylketonuria (PKU) card. The seroprevalence of Toxoplasma IgG antibodies is at present about 13% and the birth prevalence of congenital toxoplasmosis approximately 1 per 10000 liveborn children. The Danish national neonatal screening programme was expanded to include congenital toxoplasmosis from 1 January 1999. The test is also based on detection of Toxoplasma-specific IgM antibodies eluted from PKU cards. The seroprevalence of Toxoplasma IgG antibodies in pregnant women is around 25% and the birth prevalence about 1 per 3000 liveborn children. The birth prevalence of congenital Toxoplasma infection is within the range of other congenital disorders included in different screening programmes. Neonatal screening is feasible in areas with a low risk of congenital infection where prenatal screening will not be applicable.     

Presence and duration of anti-Toxoplasma gondii immunoglobulin M in infants with congenital toxoplasmosis

Objectivesto investigate the rate of positivity for immunoglobulin M anti-Toxoplasma gondii (Toxo-IgM) in newborns with congenital toxoplasmosis, and the age when these antibodies become negative.Methodspatients with congenital toxoplasmosis who started monitoring in a congenital infection clinic between 1998 and 2009 were included. Inclusion criteria were routine maternal or neonatal serological screening; diagnostic confirmation by persistence of immunoglobulin G anti-Toxoplasma gondii at age ≥ 12 months, and Toxo-IgM screening in the neonatal period. To calculate the frequency of positive Toxo-IgM, cases detected by neonatal screening were excluded. For the study of the age when Toxo-IgM results became negative, patients with negative Toxo-IgM since birth and those in whom it was not possible to identify the month when the negative result was achieved were excluded.Resultsamong the 28 patients identified through maternal screening, 23 newborns had positive Toxo-IgM (82.1%, 95% CI: 64.7-93.1%). When adding the 37 patients identified by neonatal screening, Toxo-IgM was positive in the first month of life in 60 patients, and it was possible to identify when the result became negative in 51 of them. In 19.6% of patients, these antibodies were already negative at 30 days of life; and in 54.9%, at 90 days. Among the 65 patients included in the study, 40 (61.5%) had some clinical alteration.Conclusionseven with high sensitivity methods, newborns with congenital toxoplasmosis can have negative Toxo-IgM at birth. In those who have these antibodies, the positive period may be quite short. It is important not to interrupt the monitoring of infants with suspected congenital toxoplasmosis simply because they present a negative Toxo-IgM result.     

Control of congenital infection with Toxoplasma gondii by neonatal screening based on detection of specific immunoglobulin M antibodies eluted from phenylketonuria filter-paper blood-spot samples

Two ongoing neonatal screening programmes for congenital infection with Toxoplasma gondii are presented. The New England Newborn Screening Programme has included congenital toxoplasmosis since 1986. The test is based on detection of Toxoplasma-speci fi c immunoglobulin M (IgM) antibodies eluted from the phenylketonuria (PKU) card. The seroprevalence of Toxoplasma IgG antibodies is at present about 13% and the birth prevalence of congenital toxoplasmosis approximately 1 per 10000 liveborn children. The Danish national neonatal screening programme was expanded to include congenital toxoplasmosis from 1 January 1999. The test is also based on detection of Toxoplasma-speci fi c IgM antibodies eluted from PKU cards. The seroprevalence of Toxoplasma IgG antibodies in pregnant women is around 25% and the birth prevalence about 1 per 3000 liveborn children. The birth prevalence of congenital Toxoplasma infection is within the range of other congenital disorders included in different screening programmes. Neonatal screening is feasible in areas with a low risk of congenital infection where prenatal screening will not be applicable.     

Diagnosis of congenital toxoplasmosis in the neonatal period: A multicenter evaluation

OBJECTIVE: To evaluate different laboratory tests used to diagnose congenital toxoplasmosis in the neonatal period. STUDY DESIGN: A retrospective multicenter study of 294 pregnant women who experienced seroconversion for Toxoplasma gondii and subsequently delivered live-born infants. Fetal infection was assessed via specific IgM and IgA antibodies (cord and neonatal blood) and detection of T gondii in placenta and cord blood by mouse inoculation. RESULTS: Ninety-three (32%) of the 294 infants were congenitally infected. The sensitivity of IgA in cord blood and in neonatal blood was 64% and 66%; the sensitivity of IgM was 41% and 42%, respectively. Mouse inoculation of the placenta and cord blood had sensitivities of 45% and 16%. Positive results of the serologic tests in congenitally infected children correlated significantly with the gestational age at the time of maternal infection but was not significantly influenced by the administration of specific antiparasitic treatment during pregnancy. CONCLUSION: Specific T gondii IgA antibody is a more sensitive test than IgM for detecting congenital toxoplasmosis in the neonatal period. The overall specificity is better for serologic tests performed on neonatal blood than for those on cord blood. Neonatal screening with IgM or IgA antibodies will not detect the majority of children with congenital toxoplasmosis when the maternal infection occurred before the 20th week of pregnancy.     

上海市三级和一级医院新生儿先天性巨细胞病毒感染横断面调查

目的 通过上海市区的三级甲等医院和相对远离上海市区的一级医院先天性巨细胞病毒（CMV）检测,反映上海地区先天性CMV感染情况。方法 收集复旦大学附属妇产科医院（简称复旦妇产医院）和上海闵行区浦江镇社区卫生服务中心（简称浦江医院）出生时活产的、并行新生儿疾病筛查的新生儿,利用新生儿疾病筛查后余下的干血斑点（DBS）标本以荧光定量PCR方法检测CMV DNA载量,根据新生儿疾病筛查信息和电话随访分析先天性CMV感染危险因素。危险因素定义如下：性别;出生胎龄（胎龄＜37周、～42周和≥42周）;出生体重（＜2 500 g、～3 999 g和≥4 000 g）;母亲分娩年龄（25~30岁、>30岁第1胎或≥35岁）;户籍（上海和非上海市户籍）;教育程度（初中及以下、高中、大学及以上）;家庭人口数（≤3口人、4口人、>5口人）。结果 2011年9月至2013年3月1 780份DBS标本用于CMV感染率的分析,其中浦江医院942份,复旦妇产医院838份,两医院先天性CMV总感染率为0.9%（17/1 780）,其中浦江医院感染率为1.6%（15/942）,复旦妇产医院感染率为0.2%（2/838）,差异有统计学意义（P=0.003 4）。共收集到1 530例新生儿及母亲临床资料的电话随访数据,CMV阳性和阴性新生儿母亲文化程度差异有统计学意义(P=0.008 5),其他危险因素两组间差异均无统计学意义。结论 上海地区先天性CMV感染率为0.9%,与性别、胎龄、出生体重及母亲户籍、家庭人口数不相关,与母亲教育程度相关。     

Disseminated intravascular coagulation with intracranial haematoma in neonatal congenital syphilis

Disseminated intravascular coagulation (DIC) although a well known complication in neonatal sepsis is extremely rare in congenital syphilis and there are scanty reports of this entity in the literature. Intracranial bleeding following DIC in neonatal congenital syphilis is even rarer, and has been reported only once earlier. We are reporting the second case of neonatal DIC with intracranial haematoma due to congenital syphilis in a newborn. Our patient also had clinical and biochemical evidence of hepatitis which predisposes to DIC. Extensive investigations and emergent use of imaging modalities including ultrasound and CT scan led to early diagnosis and treatment in our patient, who could therefore be salvaged from an otherwise life threatening disease.     

Giant hypothalamic hamartoma: An unusual neonatal tumor

A case of neonatal manifestation of giant hypothalamic hamartoma is reported. It is suggested that hypothalamic hamartoma should be included in the list of neonatal intracerebral tumors. Magnetic resonance imaging appearance similar to that of normal gray matter on T1-weighted images and slightly hyperintense on T2-weighted images, without enhancement after gadolinium injection, is suggestive of the diagnosis.Hypothalamic hamartomas are congenital malformations, consisting of disorganized mature neuronal elements in proportions similar to that of normal tissue [1]. They are clinically evidenced in infants ranging from 1 to 7 years of age [1–5]. This report describes a histologically proved giant hypothalamic hamartoma diagnosed in the neonatal period. Magnetic resonance imaging (MRI) is helpful to distinguish this congenital non-evolution malformation from more aggressive neonatal tumors.     

Systemic onset juvenile idiopathic arthritis-its unusual presentation

We report a case of systemic onset juvenile idiopathic arthritis (SOJIA), the manifestations of which started with fever and skin rash followed by arthritis within neonatal age. Such presentation is extremely rare in the newborn. After exclusion of closely mimicking conditions like congenital infections, neonatal onset multisystem inflammatory disease (NOMID), neonatal; lupus erythematosus (NLE) diagnosis of SOJIA may be entertained even in a neonate where arthritis, fever and rash are the presenting features.     

The need for universal neonatal hearing screening–some aspects of epidemiology and identification

The devastating consequences of a congenital/early-acquired hearing disability on the speech language and social development of a child and the estimated prevalence rates of at least 1−1.5/ 1000 live births of congenital permanent hearing impairment are important health problems. Universal neonatal hearing screening programs have provided the opportunity to detect neonates with permanent congenital hearing loss, and thus initiate auditory rehabilitation before the age of 3 mo. Universal neonatal hearing screening represents secondary prevention of hearing impairment/ deafness, and the world-wide documented delayed identification of children with congenital/early-acquired hearing impairment will no doubt be improved with the implementation of universal neonatal hearing screening programs.     

Neonatal screening for congenital hypothyroidism and phenylketonuria in China

Background  Neonatal screening is helpful to prevent serious disabitily and sufferings caused by congenital or inherited disease. This study was to review the status of neonatal screening for congenital hypothyroidism (CH) and phenylketonuria (PKU) in China. Methods  We analyzed data of neonatal screening for CH and PKU in the past two decades which were obtained from the national network of neonatal screening centers collected by the National Center for Clinical Laboratory. Results  Of 18.8 million newborns screened from 1985 to 2007, 9198 were identified with CH, giving a prevalence of 1/2047. In 19.0 million newborns screened in the same period, 1638 had PKU, with a prevalence of 1/11 572. An increasing number of neonates have been subjected to neonatal screening in China annually during this period. Data from Zhejiang Neonatal Screening Center showed that the recall rate of neonates suspected with CH and PKU was 95.52% in 2007. Confirmatory tests were performed and treatments were initiated in most of the neonates with CH and PKU within a month after birth. Conclusions  More governmental support at different levels is needed to make neonatal screening more efficient. The screening should be improved with a satisfactory control system including shorter time of report and a higher recall rate.     

Changing patterns of perinatal death, 1982-2000: a retrospective cohort study

OBJECTIVE: To describe trends in cause specific stillbirth and neonatal mortality. DESIGN: Retrospective cohort study. SETTING AND PARTICIPANTS: 686,860 births in 1982-2000, to mothers resident in the Northern Region of England. MAIN OUTCOME MEASURES: Cause specific stillbirth and neonatal mortality; rate ratios (RR) and 95% confidence intervals (CI) in 1991-2000 compared with 1982-1990. RESULTS: In singletons, rates of stillbirth and neonatal mortality declined over time (RR stillbirths, 0.81 (95% CI 0.76 to 0.87); RR neonatal mortality, 0.76 (95% CI 0.70 to 0.82)). Death from congenital anomalies declined substantially for both stillbirths (RR 0.52; 95% CI 0.40 to 0.68) and neonatal mortality (RR 0.58; 95% CI 0.51 to 0.67). Mortality due to intrapartum hypoxia also fell, by nearly 50% for stillbirths and 30% for neonatal deaths. There was no reduction in stillbirths due to antepartum hypoxia in babies weighing > or = 2500 g, or in mortality attributed to infection. In multiples, the risk of death was higher (RR stillbirths, 4.13 (95% CI 3.68 to 4.64); RR neonatal death, 7.82 (95% CI 7.13 to 8.58)). Stillbirth rates declined significantly (RR 0.71; 95% CI 0.57 to 0.89) but neonatal mortality did not (RR 0.91; 95% CI 0.77 to 1.08). There was no reduction in neonatal mortality resulting from prematurity, or in mortality from congenital anomalies. CONCLUSIONS: There is considerable overlap in the causes of stillbirth and neonatal mortality. Future progress in reducing perinatal mortality requires better understanding of the aetiology of antepartum stillbirth, of the excess risks of prematurity facing multiple births, particularly in the light of their increasing incidence, and of strategies to prevent perinatal infection.     

McArdle's disease in childhood: report of a new case.

McArdle's disease (glycogenosis type V) is an inherited glycogen storage disease characterized clinically by myalgia, cramps and sometimes myoglobinuria, triggered by exercise. The onset of exercise intolerance is usually in late childhood or adolescence and diagnosis is exceptionally established during infancy. We report the case of a 6-year-old girl who had been complaining of aching muscles for a long time, and who presented after a near-drowning incident, with extensive muscle necrosis, probably secondary to myophosphorylase deficiency-induced cramps. These unusual manifestations led to the diagnosis of this rare disorder. We compare the clinical findings of this case to nine previous reports. This highlights the heterogeneous spectrum of this disease in childhood and supports the distinction of three clinical pictures in childhood: a neonatal form rapidly fatal, a milder form with congenital myopathic symptoms and a benign classical form with myalgia, cramps and pigmenturia.     

Incidence of death from congenital toxoplasmosis in 0–4‐year‐old children in Japan

Congenital toxoplasmosis is caused by Toxoplasma gondii. The incidence of death due to congenital toxoplasmosis in Japan from 1974 to 2007 was calculated using the autopsy database of the Japanese Society of Pathology and vital statistics from the Ministry of Health, Labour and Welfare. Two neonatal deaths due to congenital toxoplasmosis were reported during that time. As there were 161 195 neonatal deaths during this period and 32 465 autopsies were performed, the yearly neonatal death from congenital toxoplasmosis was calculated as 2 × 161 195/32 465/34 = 0.29 and the autopsy rate as 32 465/161 195 = 0.2014 (20.14%). The calculated number of annual deaths in infants was 0.82 and in children aged 1–4 years it was 2.09; thus, although few, deaths from congenital toxoplasmosis do still occur in neonates, infants, and young children. Therefore, obstetricians and pediatricians should be aware of the potential for congenital toxoplasmosis, and pregnant women should make every effort to avoid T. gondii infection.