Furey Charuta, Antwi Prince, Duran Daniel, Timberlake Andrew T, Nelson-Williams Carol, Matouk Charles C, DiLuna Michael L, Günel Murat, Kahle Kristopher T
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA.
Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA.
Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5). doi: 10.1101/mcs.a003145. Print 2018 Oct.
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.
脑积水是一种脑脊液（CSF）稳态受损的疾病，通常由脑脊液生成与重吸收之间的失衡引起。在脉络丛弥漫性绒毛增生（DVHCP）的情况下，脑脊液分泌过多导致的脑积水则较为罕见。先前报道的病例中有限的基因信息表明，尽管尚未确定参与DVHCP发病机制的关键基因，但该疾病中9号染色体短臂增益的发生率很高。在此，我们报告了一名患有综合征性脑积水合并DVHCP的患者，其与一种新的9p24.3 - 11.2三倍体和15q13.2 - q13.3微缺失相关。我们回顾了DVHCP的临床、放射学和病理学特征及其手术治疗方法。对DVHCP遗传基础的更好理解可能会推动合理、有针对性的非手术性脑积水治疗方法的发展。
