Infantile hydrocephalus: A review of epidemiology, classification and causes

Abstract

Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1,000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research.

Maternal environmental risk factors for congenital hydrocephalus: a systematic review

“…Syndromic forms of CH can be further divided into 2 categories: 1) hydrocephalus that accompanies other major congenital anomalies, with obvious clinical signs and imaging features (e.g., fibroblast growth factor receptor-associated craniosynostosis syndromes); and 2) hydrocephalus that is the principal abnormality, with no major additional physical findings (L1CAM-associated hydrocephalus). 26 Therapeutically, most cases of CH necessitate surgical treatment and demand continuous monitoring by practitioners in various medical specialties for a considerable length of time.…”

“…Given that CH is an important cause of infant disability with substantial long-term health effects, 14 defining and investigating potential risk factors related to maternal environmental characteristics would be a critical step in preventing some of these cases. To our knowledge, there is an older 26 and a concurrent 28 review assessing potential risk factors for adult hydrocephalus and CH. However, no study has adequately focused on maternal environmental risk factors related to CH.…”

Repeated autologous umbilical cord blood infusions are feasible and had no acute safety issues in young babies with congenital hydrocephalus

“…Congenital hydrocephalus may occur in isolation or as a result of neural dysgenesis, such as spina bifida or a Dandy Walker malformation. Though many patients with congenital hydrocephalus are suspected to have a genetic cause, a causal mutation is identified in only a small portion of patients, most commonly X-linked hydrocephalus due to a mutation in L1CAM (3). Various other chromosomal abnormalities have been described in babies with hydrocephalus with additional associated somatic defects.…”

Will electronic integrated text, visual and audio questionnaire be a better tool to evaluate the health status of paediatric hydrocephalus patients?

“…The prevalence of infant hydrocephalus in a developed country is estimated to be one case per 1000 births [2], but this is undoubtedly higher in developing countries [3]. For example in sub-Saharan Africa, the new cases of infant hydrocephalus might exceed 200 000 per year [4].…”