Congenital hydrocephalus: Nosology and guidelines for clinical approach and genetic counselling

Congenital hydrocephalus is a serious condition that can arise from multiple causes. It comprises a diverse group of conditions which result in impaired circulation and absorption of cerebrospinal fluid. Congenital malformations of the central nervous system, infections, haemorrhage, trauma, teratogens and, occasionally, tumours can all give rise to hydrocephalus. In this paper we focus on the genetic aspects of hydrocephalus, excluding neural tube defects. The incidence is 0.4–0.8 per 1000 liveborns and stillbirths. X-linked hydrocephalus comprises approximately 5% of all cases. This condition is caused by mutations in the gene at Xq28 encoding for L1, a neural cell adhesion molecule. Carrier detection and prenatal diagnosis can be offered to affected families by means of chorionic villus biopsy and linkage analysis or L1 mutation analysis. In general, recurrence risk for congenital hydrocephalus excluding X-linked hydrocephalus, is low; empiric risk figures found in various studies range from <1% to 4%. Unfortunately, prenatal diagnosis based on an early ultrasound scan is not always reliable as ventriculomegaly usually starts after 20 weeks of gestation. We stress the importance of additional clinical investigations. Prognosis in the prenatally diagnosed patients depends on additional malformations but in general, is not very good. Conclusion Congenital hydrocephalus may be non-syndromic and syndromic. Prognosis depends primarily on the underlying cause and/or associated malformations, which have to be delineated on the basis of clinical, cytogenetic and molecular analysis. Received: 5 June 1997 / Accepted in revised form: 21 November 1997     

Congenital pyloric stenosis: a modified umbilical incision for pyloromyotomy

Thirty-two patients underwent a pyloromyotomy via an umbilical incision; in 11 a modified umbilical approach was used to facilitate delivery of the pyloric mass. Incisions are made in the skin fold of the upper half of the umbilicus and at the midline, joining the two at the top. The skin incision is closed by upper umbilical translocation with a very good cosmetic result. This incision allows easy access to the pylorus and provides more convenient exposure. The absence of traction on the retractors avoids tissue ischemia, which leads to wound abscess development.     

Congenital microgastria with esophageal stenosis and diaphragmatic hernia

A rare case of congenital microgastria in association with distal esophageal stenosis and left-sided congenital diaphragmatic hernia is reported. Other features included megaesophagus and asplenia. The probable causative factors are discussed.     

Congenital valvar aortic stenosis and abnormal origin of the right coronary artery: Rare combination with important clinical implications

Congenital valvar aortic stenosis in association with an abnormal coronary artery origin and distribution has not been previously reported. The right coronary artery arose in the left ventricular (LV) outflow tract and supplied much of the LV myocardium. Aortic valvotomy with standard antegrade cardioplegia resulted in infarction of the left ventricle. Aggressive attempts to ascertain the origin of the coronary arteries in right dominant coronary systems must be performed before any intervention in this group of patients.     

Congenital ureteric stenosis: a study of 17 children

Aim  To review cases of congenital ureteric stenosis treated in the period between 1999 and 2007. We propose to analyze the type of presentation, management and results. Material and methods  We report 17 children aged 20 days to 8 years with obstructive uropathy due to congenital stenosis of the ureter at one or more levels. This condition could be mistaken for the more common pelviureteric junction obstruction (PUJO) or primary megaureter, but it is a distinct and more serious anomaly. 13 of the 17 children had one or more associated anomalies, the most significant of which was a contralateral multicystic dysplastic kidney. Other associated anomalies included PUJO, megacalyx, vesicoureteric reflux, urogenital sinus, duplicate vagina, anorectal malformation and agenesis of the bladder. 16 children were symptomatic at presentation, with uremia (serum creatinine >1 mg/dl) in 5, while 1 was diagnosed antenatally. The correct preoperative diagnosis was made in only three children. Reconstruction included ureteroureteral anastomosis, ureteric reimplantation or ureteral substitution. Results  There is follow up for 15 of the 17 patients. Length of follow up ranges from 1 to 7 years (average 2.7 years). There was satisfactory urinary drainage established in all 17 cases and uremia has resolved 3 of the 5 children. The children with solitary functioning kidney are at risk of uremia in later life. Conclusion  Congenital ureteric stenosis is a rare condition, but distinct anomaly with possible grave consequence and has been distinguished from other causes of congenital ureteric obstruction.     

Congenital esophageal stenosis associated with esophageal atresia: new concepts

Congenital esophageal stenosis (CES) is suspected by a fixed intrinsic narrowing of the esophagus that affects the normal swallowing mechanism. The diagnosis is only confirmed by histopathologic picture, which may show fibromuscular disease (FMD) or tracheobronchial remnants (TBR). The latter involves ciliated pseudo stratified columnar epithelium, seromucous glands or cartilage each alone or in combination. The aim of this study is to document the usefulness of histologic picture of surgical specimens obtained from the lower esophageal pouch (LEP) during primary repair in detecting cases of CES associated with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF). Over an 8-year period, 57 consecutive cases operated upon for EA with or without TEF were subjected for histologic examination of surgical specimens obtained from the tip of the LEP. Cases that histologically showed FMD or TBR were included. The usefulness of this histologic picture as a diagnostic and therapeutic aid is assessed. Methods of treatment and outcome were also reviewed. Eight patients out of 57 (14%) had a histologic picture suggestive of CES, two with FMD, four with TBR without cartilage and two with cartilage. Out of 57 patients, 23 developed strictures, six of them had positive biopsies suggestive of CES. One patient with TBR without cartilage did not have stricture. Another case of pure atresia had LEP resection and gastric pull up showed cartilage involving the whole lower esophagus. Excluding the case of pure EA with gastric pull up, all patients suffered from feeding problems and recurrent aspiration. Fluoroscopic barium studies showed late onset minor dysmotility in five patients and late onset major dysmotility in two. All cases studied showed significant gastro-esophageal reflux (GER). Stricture was seen at the anastomotic site extending distally in the two fibromuscular cases and one case with cartilage, at the anastomotic site in three cases with TBR without cartilage. Anti reflux surgical procedures were performed in four patients without benefit in two patients with major dysmotility. Dilatation was successful in the three patients with TBR without cartilage. One patient with cartilage had resection of the anastomotic site and required frequent dilatations and is now doing well. A case of FMD did not improve after frequent dilatations and myotomy together with Nissen’s fundoplication and required resection while the other case of FMD responded partially to dilatations. Cartilage in cases of CES requires surgical resection. Those with TBR without cartilage may not develop stricture. If stricture develops, it responds well to dilatation and patients have good clinical outcomes. Unlike isolated CES, GER is a significant feature in CES with EA. Anti reflux procedures should be avoided before definitive surgery for the stricture and if necessary a partial wrap with gastrostomy is recommended. CES should be considered in the etiology of anastomotic stricture. Taking a surgical specimen routinely from the tip of the LEP during primary esophageal repair for histologic studies is highly recommended.     

Neuropathology and immunohistochemistry of the brain-stem in neonates with congenital hydrocephalus: Comparative studies between aqueductal stenosis and Arnold-Chiari malformation

Neuropathological and immunohistochemical studies were done on the brain-stem of neonates who had congenital hydrocephalus with aqueductal stenosis or Arnold-Chiari malformation (ACM). The infants with aqueductal stenosis showed heterogeneity in their clinicopathological findings while the infants with ACM were relatively similar in neuropathological findings. There were prominent astrogliosis, decreased immunoreactivity with antisera to tyrosine hydroxylase and myelin basic protein in the periaqueductal area, and an increased reactivity with antiserum to substance P in the tegmentum of most patients with aqueductal stenosis and other malformations. In ACM, there was little gliosis in the tegmentum and periaqueductal area and minimal immunoreactivity of tyrosine hydroxylase, myelin basic protein and substance P. In both groups of cases, the cells in the periaqueductal region differ in neurotransmitter/neuromodulator immunoreactivity and degree of myelination reflecting a difference possibly in their maldevelopment.     

小儿先天性肥厚性幽门狭窄合并肠旋转不良的临床特点

目的 探讨小儿先天性肥厚性幽门狭窄合并肠旋转不良的临床特点.方法 回顾性分析2003年1月至2009年12月于我科治疗的6例先天性肥厚性幽门狭窄合并肠旋转不良患儿的临床资料.结果 通过胃肠透视及超声检查,4例患儿术中确诊该病并经1次手术解决,2例术前仅诊断为先天性肥厚性幽门狭窄,行幽门肌切开术,再次出现呕吐后行2次手术发现肠旋转不良.所有病例预后良好.结论 先天性肥厚性幽门狭窄合并肠旋转不良较为少见,病因不清,先天性肥厚性幽门]狭窄的症状易掩盖肠旋转不良的临床表现而贻误其诊断.胃肠透视对于诊断该病有重要意义,彩超检查有良好的应用价值,及时的诊断治疗可获得良好的治疗效果.     

Establishing individual peer counselling for exclusive breastfeeding in Uganda: implications for scaling-up

Exclusive breastfeeding remains critical for child survival, potentially reducing childhood morbidity and mortality. In Uganda, 98% of children are ever breastfed, but exclusive breastfeeding levels remain low. Supporting mothers in breastfeeding exclusively can improve breastfeeding practices. This paper describes experiences of establishing individual peer counselling for exclusive breastfeeding in the Uganda site of the Promoting Infant Health and Nutrition in Sub-Saharan Africa: Safety and Efficacy of Exclusive Breastfeeding Promotion in the Era of HIV trial, and highlights some implications for scaling-up. Twelve women were identified by their communities, one from each of 12 clusters. They were trained for 6 days and followed up for 1 year while they counselled mothers. Their knowledge and attitudes towards exclusive breastfeeding were assessed before and immediately after training, and also 10 months into peer counselling. Observations, field notes and records of interactions with peer counsellors were used to record experiences from this intervention. The communities were receptive to peer counselling and women participated willingly. After training and 10 months' follow-up, their knowledge and attitude to exclusive breastfeeding improved. All were retained in the study, and mothers accepted them in their homes. They checked for mothers several times if they missed them on the first attempt. Husbands and grandmothers played key roles in infant feeding decisions. Involving the communities in selection helped to identify reliable breastfeeding peer counsellors who were acceptable to mothers and were retained in the study. Other key issues to consider for scaling-up such interventions include training and follow up of peer counsellors, which led to improved knowledge and attitudes towards exclusive breastfeeding (ClinicalTrials.gov no: NCT00397150).     

MDCT evaluation of congenital mitral-aortic intervalvular fibrosa aneurysm: implications for the aetiology and differential diagnosis

Mitral-aortic intervalvular fibrosa aneurysm is a rare disease whose aetiology remains a matter of debate. Here we present the youngest reported patient with the disease, a 6-month-old boy, without a history of infection, which supports a congenital origin as initially proposed. Multidetector-row CT (MDCT) surpassed echocardiography in delineating the intracardiac anatomical details with high spatial resolution, confirming the important problem-solving role of MDCT in the diagnosis of congenital heart disease. Electronic supplementary material  The online version of this article (doi:) contains supplementary material, which is available to authorized users.     

Supravalvar aortic stenosis: Discordance in monozygotic twins and reduction in severity of obstruction during childhood

Summary A monozygotic twin boy with supravalvar aortic stenosis had reduction in the degree of obstruction with body growth. His twin brother had normal cardiac anatomy. To our knowledge, this is the first report of improvement without intervention in a patient with supravalvar aortic stenosis and of discordance of supravalvar aortic stenosis in monozygotic twins.     

Genetic analysis of cystic fibrosis in Denmark. Implications for genetic counselling, carrier diagnosis and prenatal diagnosis

Cystic fibrosis is the most common, severe, inherited disease in the Caucasian population. As a consequence, the demand for genetic counselling of patients with cystic fibrosis and their families is large. In Denmark the incidence of cystic fibrosis is 1:4700, which is quite low compared to other European countries. We have investigated 268 Danish cystic fibrosis patients with respect to DNA markers (haplotypes) and the most common mutation delta F508. The delta F508 mutation is found on 88% of all cystic fibrosis chromosomes, the highest frequency reported so far. This had had an important impact on genetic counselling, prenatal diagnosis and eventually population screening. In the Danish population 78% of all couples at risk will be informative for delta F508 and will be identifiable by simple screening methods.     

Balloon Valvuloplasty for Congenital Aortic Valve Stenosis in an Infant and Children

Percutaneous balloon aortic valvuloplasty (BAV) was performed in 14 patients, including one critically ill infant with congenital valvular aortic stenosis (AS). BAV was effective in 13 patients (except the infant). The peak systolic pressure gradient between the left ventricle (LV) and the ascending aorta decreased from 76.6 ± 21.6 to 29.5 ± 15.3 mmHg ( P < 0.001). Follow-up cardiac catheterization was performed for eight patients between 1 and 3 years (1.6 ± 1.1 years) after BAV. Restenosis was found in only one patient, and the efficacy of BAV continued significantly. Aortic regurgitation developed or increased in severity in 5 of 13 children immediately after BAV. Any other severe complication was not observed.
Dilatation by BAV was not sufficient for the infant with critical AS, and acute myocardial infarction (AMI) in the lateral wall of the LV occurred during the BAV procedure. The infant died 3 days after the procedure due to AMI.
It was concluded that the retrograde double balloon technique was superior to the retrograde single balloon technique. In two cases, the single balloon technique was ineffective because it was impossible to fix the balloon at the aortic annulus. However, the double balloon technique was effective in every patient.
BAV is effective for AS in children, and an optional repeat trial may enable BAV to be the first choice for AS. Although BAV may be effective for neonates and infants with critical AS as an emergency treatment, much attention must be paid during the procedure.     

Quality of life in Turner syndrome is related to chromosomal constitution: implications for genetic counselling and management

Skuse D, Elgar K, Morris E. Quality of life in Turner syndrome is related to chromosomal constitution: implications for genetic counselling and management. Acta Pædiatr 1999; Suppl 428: 110–13. Stockholm. ISSN 0803–5326
Issues of self-appraisal, friendships and academic attainments are uniquely salient for all adolescents. For girls with Turner syndrome, social problems and learning difficulties often become more serious at this time, yet may be unacknowledged by those responsible for Pædiatric care because their focus is on growth and sexual maturation. Data on the social and educational adjustment of 110 45,X (monosomic) females aged between 6 and 25 years is presented. Detailed information on the patients'precise karyotype was used to demonstrate systematic differences in adjustment between those whose single X chromosome was maternally derived and those in whom it was paternal. Implications for educational support and parental guidance are discussed. □ Educational attainments, karyotype, non-verbal intelligence, quality of life, social adjustment, Turner syndrome, verbal intelligence     

Quality of life in Turner syndrome is related to chromosomal constitution: implications for genetic counselling and management

Issues of self-appraisal, friendships and academic attainments are uniquely salient for all adolescents. For girls with Turner syndrome, social problems and learning difficulties often become more serious at this time, yet may be unacknowledged by those responsible for paediatric care because their focus is on growth and sexual maturation. Data on the social and educational adjustment of 110 45,X (monosomic) females aged between 6 and 25 years is presented. Detailed information on the patients' precise karyotype was used to demonstrate systematic differences in adjustment between those whose single X chromosome was maternally derived and those in whom it was paternal. Implications for educational support and parental guidance are discussed.     

Congenital diaphragmatic hernia and retinoids: searching for an etiology

Congenital diaphragmatic hernia (CDH) is a major life-threatening cause of respiratory failure in the newborn. Recent data reveal the role of a retinoid-signaling pathway disruption in the pathogenesis of CDH. We describe the epidemiology and pathophysiology of human CDH, the metabolism of retinoids and the implications of retinoids in the development of the diaphragm and lung. Finally, we describe the existing evidence of a disruption of the retinoid-signaling pathway in CDH.     

Measuring coverage of infant and young child feeding counselling interventions: A framework and empirical considerations for survey question design

Most countries implement nutrition counselling interventions as part of programmes to support breastfeeding and complementary feeding. However, data to track coverage of counselling interventions are rarely available. As a result, little is known about the coverage of counselling on infant and young child feeding (IYCF). Survey‐based data collection systems generally collect data on IYCF practices but do not collect data on coverage of interventions to support IYCF, and those surveys that do collect this information do not do so consistently. We present a framework to guide the design of survey questions to measure IYCF counselling coverage. We provide examples of how large‐scale surveys for programme evaluation and national monitoring have included survey questions to address these data gaps. Our review suggests that elements relevant to designing survey questions to capture coverage of counselling interventions include timing of contact, target behaviour and message content, place of contact, type of service provider, frequency of contact and mode of intervention. Application of this framework may help strengthen harmonized measurement of IYCF counselling coverage to enable better tracking of programme investments, document progress in scaling up nutrition services and allow for cross‐country comparisons. Thus, improving measurement of counselling coverage may lead to improved reach of programmes to support optimal IYCF practices.     

The Pediatric Heart Network: A Primer for the Conduct of Multicenter Studies in Children with Congenital and Acquired Heart Disease

Most contemporary diagnostic and treatment strategies for pediatric patients with cardiovascular disease are not supported by evidence from clinical trials but instead are based on expert opinion, single-institution observational studies, or extrapolated from adult cardiovascular medicine. In response to this concern, the National Heart, Lung, and Blood Institute established the Pediatric Heart Disease Clinical Research Network (PHN) in 2001. The purposes of this article are to describe the initiation, structure, and function of the PHN; to review the ongoing studies; and to address current and future challenges. To date, four randomized clinical trials and two observational studies have been launched. Design and conduct of complex, multicenter studies in children with congenital and acquired heart disease must address numerous challenges, including identification of an appropriate clinically relevant primary endpoint, lack of preliminary data on which to base sample size calculations, and recruitment of an adequate number of subjects. The infrastructure is now well developed and capable of implementing complex, multicenter protocols efficiently and recruiting subjects effectively. The PHN is uniquely positioned to contribute to providing evidence-based medicine for and improving the outcomes of pediatric patients with cardiovascular disease.