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Infantile hydrocephalus: a review of epidemiology, classification and causes

Hannah M Tully1, William B Dobyns2

  • 1Department of Neurology, University of Washington, Seattle, WA, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.

European Journal of Medical Genetics
|June 17, 2014
PubMed

Insights

Infantile hydrocephalus, a complex condition of cerebrospinal fluid (CSF) flow obstruction, affects 1.1 in 1000 infants. This review outlines its causes, classification, and pathogenesis to aid assessment and research.

Area of Science:

  • Pediatrics
  • Neurology
  • Developmental Biology

Background:

  • Hydrocephalus is a complex condition characterized by cerebrospinal fluid (CSF) flow obstruction and progressive ventricular dilatation.
  • Affecting approximately 1.1 in 1000 infants, infantile hydrocephalus presents significant diagnostic and research challenges due to limited systematic cause assessments.
  • Understanding the multifaceted origins of this condition is crucial for both clinical management and scientific inquiry.

Purpose of the Study:

  • To systematically review the contemporary literature on the epidemiology, classification, and pathogenesis of infantile hydrocephalus.
  • To delineate the major environmental and genetic factors contributing to the development of hydrocephalus in infants.
  • To provide a comprehensive framework for assessing infants with hydrocephalus and to guide future research directions.

Main Methods:

  • Systematic literature review of contemporary research on infantile hydrocephalus.
  • Analysis of epidemiological data, focusing on incidence and prevalence in infants.
  • Synthesis of information on the classification and pathogenesis, including genetic and environmental etiologies.

Main Results:

  • Hydrocephalus is defined by obstruction of cerebrospinal fluid (CSF) flow, leading to ventricular enlargement.
  • Key causes encompass a range of environmental influences and genetic predispositions.
  • The review synthesizes current knowledge on incidence, classification systems, and underlying pathological mechanisms.

Conclusions:

  • Infantile hydrocephalus is a significant pediatric neurological condition with diverse etiologies.
  • A structured understanding of its epidemiology, classification, and pathogenesis is essential for effective clinical practice.
  • This review provides a foundational framework to enhance infant hydrocephalus assessment and stimulate further scientific investigation.

Keywords:
Aqueductal stenosisGeneticsHydrocephalusIntraventricular hemorrhageL1CAM

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