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Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5). pii: a003145. doi: 10.1101/mcs.a003145. Print 2018 Oct.

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

Author information

1
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA.
2
Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA.
3
Department of Surgery, Section of Plastic and Reconstructive Surgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA.
4
Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06510, USA.
5
Department of Cellular and Molecular Physiology, Yale University School of Medicine, New Haven, Connecticut 06510, USA.

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.

KEYWORDS:

hydrocephalus; moderate global developmental delay

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