9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus.
Cold Spring Harb Mol Case Stud
; 4(5)2018 10.
Article
en En
| MEDLINE
| ID: mdl-29895553
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 9
/
Plexo Coroideo
/
Hidrocefalia
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Cold Spring Harb Mol Case Stud
Año:
2018
Tipo del documento:
Article
País de afiliación:
Estados Unidos