Abstract：
UNLABELLED: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.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Schrander-Stumpel C,Fryns JPdoi
10.1007/s004310050830subject
Has Abstractpub_date
1998-05-01 00:00:00pages
355-62issue
5eissn
0340-6199issn
1432-1076journal_volume
157pub_type
杂志文章,评审abstract：:Pediatric palliative care (PPC) focuses on children and adolescents with life-limiting diseases. It may be initiated at various points of the disease trajectory, if possible early enough to support living with the best possible quality of life despite a limited lifespan. From birth to adolescence, children with a broa...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-012-1710-z
更新日期：2013-02-01 00:00:00
abstract：:Phenobarbital has been shown to offer effective prophylaxis against childhood febrile convulsions. However, a high percentage of children do not tolerate phenobarbital, mainly due to behavioral changes. Valproate, due to its low toxicity, appears to be an attractive alternative to phenobarbital treatment. Ninety child...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441308
更新日期：1981-10-01 00:00:00
abstract：:This study gives, for the first time, an estimate of the incidence and the cost of rotavirus infection in day care centers in Lyon, France. ...
journal_title：European journal of pediatrics
pub_type： 杂志文章,多中心研究
doi：10.1007/s00431-006-0187-z
更新日期：2006-12-01 00:00:00
abstract：:Primary ciliary dyskinesia (PCD) is an inherited disease related to ciliary dysfunction, with heterogeneity in clinical presentation and in ciliary ultrastructural defect. Our study intended to determine if there are phenotypic differences in patients with PCD based on ciliary ultrastructural abnormality. In this retr...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-013-1996-5
更新日期：2013-08-01 00:00:00
abstract：UNLABELLED:A formerly premature, exclusively breast-fed infant with severe zinc deficiency syndrome is presented. He showed the characteristic erosive skin changes, including alopecia, as seen in acrodermatitis enteropathica. In addition, he manifested a failure to thrive and irritability. The diagnosis was confirmed b...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01972977
更新日期：1995-01-01 00:00:00
abstract：UNLABELLED:The short stature homeobox-containing gene (SHOX) on the short arm of the X and Y chromosomes is an important determining factor of stature phenotype. Absence of the SHOX gene is a main cause for short stature in patients with Turner syndrome. Mutations of the SHOX gene can also be responsible for Léri-Weill...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310100790
更新日期：2001-09-01 00:00:00
abstract：:Two newborns with congenital rubella syndrome are reported. Cranial sonography demonstrated bilateral cystic lesions in the subependymal germinal matrix. Congenital rubella and cytomegalovirus (CMV) infections are the most common proven causes of subependymal cysts of nonhaemorrhagic origin in the newborn. The sonogra...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441403
更新日期：1988-12-01 00:00:00
abstract：:We hypothesized that because 45,X/46,XY (X/XY) children share a cell line with Turner syndrome (TS), they also share co-morbidities described in TS. In addition, the presence of the Y chromosome in brain and in other body tissues would influence their function. On the basis of our findings, we aimed to establish optim...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-011-1600-9
更新日期：2012-03-01 00:00:00
abstract：:The factors influencing the final height of central precocious puberty patients treated with gonadotrophin releasing hormone (GnRH) analogues remain a critical issue. This study compares the predicted final height before and after GnRH analogue therapy to identify predictive factors for final height. Fourteen girls wi...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01959077
更新日期：1992-10-01 00:00:00
abstract：:Recent studies revealed that fluid overload is associated with higher mortality in critically ill children and adults. This study aimed to evaluate the association between fluid overload in the first 3 days of life and mortality in extremely low birth weight infants. This single-center retrospective cohort study inclu...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-020-03654-z
更新日期：2020-11-01 00:00:00
abstract：UNLABELLED:In this review, a simplified scheme for classification of cortical malformations is introduced and illustrated based on the work of Barkovich et al. [8]. Detailed MRI studies identify cortical malformations as a major cause of epilepsy in children. Two aspects that are becoming increasingly important for the...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s004310000452
更新日期：2000-08-01 00:00:00
abstract：:Less invasive surfactant administration (LISA) is a method to deliver surfactant to spontaneously breathing premature infants via a thin catheter. Here we report the two-year outcome from the AMV (avoid mechanical ventilation) study, the first randomized controlled trial on this mode of surfactant delivery. No statist...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-020-03572-0
更新日期：2020-08-01 00:00:00
abstract：:Changes of the complement components in the sera of 13 children with treated coeliac disease were studied after gluten challenge. The levels of C 1 and C3-activator (factor B) were significantly decreased at 4 h after the challenge, as were the levels of total complement (CH 50) and the components C 1, C 4 and C 1-ina...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01846034
更新日期：1980-08-01 00:00:00
abstract：:We aimed to assess the prevalence and outcomes of esophageal perforation in very low birth weight infants. This retrospective cohort study utilized the US National Inpatient Sample dataset for the years 2000 to 2017. A total of 1,755,418 very low birth weight infants were included; of them, 861 (0.05%) were diagnosed ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-020-03894-z
更新日期：2021-02-01 00:00:00
abstract：:The study was planned to determine identifiable starting points of a trend towards obesity and the influence of variables in preschool children aged 0 to 6 years. In this longitudinal follow-up study, 102 children were enrolled. Anthropometric measurements such as weight-height centiles (specific for gender and age gr...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-010-1343-z
更新日期：2011-06-01 00:00:00
abstract：:This study aimed to estimate the number of infants who died of unrecognized congenital adrenal hyperplasia (CAH) in Austria and the Czech Republic within the past 13 years, before the introduction of adequate neonatal screening. The study was based on retrospective analysis of neonatal screening cards of 242 infants w...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-006-0154-8
更新日期：2007-01-01 00:00:00
abstract：:The relationship between nicotine and cotinine concentrations in mother's milk (including 24 h profiles) and the number of cigarettes consumed was studied. A total of 206 milk samples were collected from 34 nursing, smoking mothers. The mothers were distributed into three groups: Group I (1-10 cigarettes/day), group I...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00647276
更新日期：1987-01-01 00:00:00
abstract：:Phenylketonuria's (PKU) treatment based on low-protein diet may affect other metabolic pathways, such as that of asymmetric dimethylarginine (ADMA). The aim of this study was to evaluate the reliability of ADMA as a biomarker of adequate metabolic control and possible nutritional risk in a long-term PKU patient popula...
journal_title：European journal of pediatrics
pub_type： 杂志文章,多中心研究
doi：10.1007/s00431-019-03365-0
更新日期：2019-06-01 00:00:00
abstract：BACKGROUND:Human immunodeficiency virus type 1 (HIV-1) infected children treated with highly active antiretroviral therapy (HAART) may develop a significant reduction of plasma viremia associated with an increase in CD4+ T-cell counts. Functional capacity of this reconstituted immune system in response to recall antige...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-006-0184-2
更新日期：2007-01-01 00:00:00
abstract：:Clinical and EEG family data of 140 cases with early childhood epilepsy with absences are presented. The aim of the study was to evaluate, whether the occurrence of generalized tonic clonic seizures (GTCS) as a presenting symptom might correlate with family data, i.e. whether there are indications of heterogeneity. On...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01956423
更新日期：1994-05-01 00:00:00
abstract：:A patient with a cerebro-hepato-renal syndrome was investigated. The visceral manifestations were those of the Zellweger syndrome (ZS); however, the child exhibited muscular hypertonia and survived into the 2nd year of life. Ultramicroscopically, hepatocytes were lacking peroxisomes, but, contrary to findings in one p...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441934
更新日期：1977-03-18 00:00:00
abstract：:Analysis of both the human and rat galactose-1-phosphate uridyltransferase (GALT) genes reveal 5' regulatory consensus sequences suggestive of a housekeeping gene. This is in accord with the finding of GALT activity in all tissues. However, the complications seen in galactosemia, in particular ovarian dysfunction and ...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/BF02143799
更新日期：1995-01-01 00:00:00
abstract：:The glycogen storage disorders (GSD)-I, -III, -VI and -VIII are associated with hypertriglyceridaemia or mixed hyperlipidaemia which poses the question whether these patients have an increased risk for atherosclerosis. The atherogenicity of triglycerides has remained controversial, while increased plasma cholesterol l...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/BF02072094
更新日期：1993-01-01 00:00:00
abstract：:Direct measurements of parathyroid activity are available in only small numbers of children with vitamin D deficiency rickets (VDR). Therefore serum immunoreactive parathyroid hormone (iPTH) and the urinary cyclic adenosine-3',5'-monophosphate excretion (UcAMP) were measured together with other important indices of ca...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00443214
更新日期：1984-01-01 00:00:00
abstract：:The role of the type-2 T helper (Th2) cell-mediated immune response in the immunopathogenesis of atopic dermatitis (AD) is well documented. Whether polarized immunoresponse is confined to antigen-specific T cells or is distributed among all T cell subsets is still controversial. We investigated frequencies of interleu...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-006-0319-5
更新日期：2007-08-01 00:00:00
abstract：:To evaluate the feasibility and clinical usefulness of immunocytochemical detection of bone marrow metastases in neuroblastoma, we studied bone marrow samples from patients undergoing intensive therapy, followed in the majority of cases by autologous bone marrow rescue. Two monoclonal antibodies were used in an indire...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00442474
更新日期：1988-08-01 00:00:00
abstract：:The burden of community-acquired pneumonia (CAP) in high-income countries is still significant. The introduction of pneumococcal conjugate vaccines (PCV) has reduced the overall need for hospitalization for CAP. However, it is not clear whether children with underlying disease also have benefitted from the PCV immuniz...
journal_title：European journal of pediatrics
pub_type： 杂志文章,多中心研究
doi：10.1007/s00431-016-2843-2
更新日期：2017-03-01 00:00:00
abstract：BACKGROUND:The treatment of complicated urinary tract infection in children is still a matter of debate. In our hospital, antimicrobial treatment is initiated intravenously, and the duration of this treatment is adapted according to the results of a Tc-99m dimercaptosuccinic acid (DMSA) scintigraphy. AIM:This study wa...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-013-2024-5
更新日期：2013-09-01 00:00:00
abstract：:Paediatric patients are more vulnerable to drug administration errors due to a lack of appropriate drug dosages and strengths for use in this group of patients. Therefore, the aim of the present study was to determine the extent and types of drug administration errors in two paediatric wards and to identify measures t...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-009-1084-z
更新日期：2010-05-01 00:00:00
abstract：:Asymptomatic excretion of group B streptococcus (GBS) in breast milk may be an underrecognized cause of neonatal and recurrent infection. We report the case of late-onset and recurrent infection in newborn twins resulting from ingestion of maternal breast milk infected with GBS. Genetic analysis of isolates is equally...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-008-0903-y
更新日期：2009-09-01 00:00:00
