ReviewEuropean journal of pediatrics1998
Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling.
Review in European journal of pediatrics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
36 citing papers in PubMed, 163 citations in OpenAlex.
- Ependymal cell lineage reprogramming as a potential therapeutic intervention for hydrocephalus.EMBO molecular medicine · 2024Article
- Unilateral Exophthalmos as the First Sign of Chronic Obstructive Hydrocephalus in a Pediatric Patient: A Case Report.Cureus · 2024Article
- Case 1: A Case of Decreased Feeding and Lethargy in an 8-week-old Boy.Pediatrics in review · 2024Article
- Paediatric hydrocephalus.Nature reviews. Disease primers · 2024Review
- Roles of Ependymal Cells in the Physiology and Pathology of the Central Nervous System.Aging and disease · 2023Review
- L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant.Reproductive sciences (Thousand Oaks, Calif.) · 2022Article
- Syndromic Hydrocephalus.Neurosurgery clinics of North America · 2022Review
- Children hydrocephalus in Togo: etiologies, treatment, and outcomes.Surgical neurology international · 2022Article
- Endoscopic third ventriculostomy versus ventriculoperitoneal shunt insertion for the management of pediatric hydrocephalus in African centers - A systematic review and meta-analysis.Surgical neurology international · 2022Review
- Congenital Hydrocephalus and Associated Risk Factors: An Institution-Based Case-Control Study, Dessie Town, North East Ethiopia.Pediatric health, medicine and therapeutics · 2022Article
- Case Report: Two NovelFrontiers in genetics · 2022Article
- Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review.Experimental and therapeutic medicine · 2021Article
- Not all ventriculomegaly is created equal: diagnostic overview of fetal, neonatal and pediatric ventriculomegaly.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Review
- Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Review
- Fetal brain damage in congenital hydrocephalus.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Review
- Characterization of a multicenter pediatric-hydrocephalus shunt biobank.Fluids and barriers of the CNS · 2020Article
- Impaired neural differentiation and glymphatic CSF flow in theDisease models & mechanisms · 2019Article
- Perinatal mortality associated with congenital defects of the central nervous system in Colombia, 2005-2014.Journal of community genetics · 2019Article
- Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.BMC medical genetics · 2018Article
- A mutation inDevelopment (Cambridge, England) · 2018Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledCongenital 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.
conclusionCongenital 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.
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