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Congenital Hydrocephalus

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Cerebrospinal Fluid Disorders

Abstract

Congenital hydrocephalus (CH) is due to disordered cerebrospinal fluid homeostasis that results in clinically significant ventriculomegaly. It is the most common disease treated by pediatric neurosurgeons and represents a tremendous burden on patients, caregivers, and healthcare systems worldwide. CH may be primary (also called developmental) or secondary (also called acquired) based on its etiology. Our understanding of the molecular pathophysiology of CH remains nascent, but advances in Genetics and Molecular Biology have elucidated some mechanisms in the etiopathogenesis of this disease. Mutations in more than 100 human genes have been identified to cause syndromic forms of primary CH; mutations in much fewer genes have been identified in nonsyndromic forms of primary CH. Here, we review the molecular genetics of congenital hydrocephalus, drawing from studies in both humans and nonhuman vertebrates. A comprehensive understanding of the key genetic drivers and the associated molecular mechanisms of CH might help identify targets for the development of novel therapeutics for this disorder of cerebrospinal fluid (CSF) homeostasis.

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Authors and Affiliations

  1. Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA

    Charuta Gavankar Furey & Prince Antwi

  2. Departments of Neurosurgery, Pediatrics, and Cellular and Molecular Physiology, Yale School of Medicine, New Haven, CT, USA

    Kristopher Thomas Kahle

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  1. Department of Neurological Surgery, Washington University School of Medicine, St. Louis Children’s Hospital, St. Louis, MO, USA

    David D. Limbrick Jr.

  2. Nationwide Children’s Hospital, Department of Neurosurgery, The Ohio State University College of Medicine, Columbus, OH, USA

    Jeffrey R. Leonard

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Furey, C.G., Antwi, P., Kahle, K.T. (2019). Congenital Hydrocephalus. In: Limbrick Jr., D., Leonard, J. (eds) Cerebrospinal Fluid Disorders . Springer, Cham. https://doi.org/10.1007/978-3-319-97928-1_5

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