9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus

Authors

• Charuta Furey, Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA.
• Prince Antwi, Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA.
• Daniel Duran, Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA.
• Andrew T. Timberlake, Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA.
• Carol Nelson-Williams, Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA.
• Charles C. Matouk, Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA.
• Michael L. DiLuna, Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA.
• Murat Günel, Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA.
• Kristopher T. Kahle, Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA.

Document Type

Article

Abstract

Hydrocephalus, a disorder of impaired cerebrospinal fluid (CSF) homeostasis, often results from an imbalance between CSF production and reabsorption. Rarely, hydrocephalus is the consequence of CSF hypersecretion in the context of diffuse villous hyperplasia of the choroid plexus (DVHCP). The limited genetic information in previously reported cases suggests a high prevalence of gains of Chromosome 9p in this disease, although the critical genes involved in DVHCP pathogenesis have not been identified. Here, we report a patient with syndromic hydrocephalus with DVHCP associated with a novel 9p24.3-11.2 triplication and 15q13.2-q13.3 microdeletion. We review the clinical, radiological, and pathological features of DVHCP, as well as its surgical management. A better understanding of the genetic basis of DVHCP could spur the development of rational, targeted nonsurgical hydrocephalus treatments.

Medical Subject Headings

Cerebrospinal Fluid Shunts; Choroid Plexus (pathology); Chromosomes, Human, Pair 9 (genetics); Gene Duplication (genetics); Humans; Hydrocephalus (genetics); Hyperplasia (genetics); Infant; Lateral Ventricles; Magnetic Resonance Imaging; Male; Tomography, X-Ray Computed

Publication Date

10-1-2018

Publication Title

Cold Spring Harbor molecular case studies

E-ISSN

2373-2873

Volume

4

Issue

5

PubMed ID

29895553

Digital Object Identifier (DOI)

10.1101/mcs.a003145

Recommended Citation

Furey, Charuta; Antwi, Prince; Duran, Daniel; Timberlake, Andrew T.; Nelson-Williams, Carol; Matouk, Charles C.; DiLuna, Michael L.; Günel, Murat; and Kahle, Kristopher T., "9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus" (2018). Neurosurgery. 2393.
https://scholar.barrowneuro.org/neurosurgery/2393