Department of Neurosurgery, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA; Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Department of Neurosurgery, Tufts Medical Center, Boston, Massachusetts, USA.
World Neurosurg. 2020 Sep;141:101-109. doi: 10.1016/j.wneu.2020.05.211. Epub 2020 Jun 1.
Hyperplasia of the choroid plexus represents a rare cause of communicating hydrocephalus in children. Recent work has associated such disease with genetic abnormalities (such as perturbations in chromosome 9). Given such extensive cerebrospinal fluid (CSF) overproduction, patients with choroid plexus hyperplasia often fail CSF diversion and therefore require adjuvant interventions.
We present the case of a male infant with a ventriculoperitoneal shunt and radiographic choroid hyperplasia who presented to our institution with a massive abdominal hydrocele caused by an inability to absorb the significant amount of CSF drainage into the abdomen.
The child was treated with an endoscopic third ventriculostomy and choroid plexus coagulation; however, he still required CSF diversion via a ventriculoatrial shunt. A genetic workup showed tetraploidy of chromosome 9. We discuss criteria for selection of treatment strategies, including endoscopic third ventriculostomy with choroid plexus coagulation and/or CSF diversion, that may prevent the need for re-operation in select patients with hydrocephalus due to choroid plexus hyperplasia.
脉络丛增生是儿童交通性脑积水的罕见病因。最近的研究将这种疾病与遗传异常（如染色体 9 异常）联系起来。由于脑脊液（CSF）过度产生，脉络丛增生患者常无法进行 CSF 引流，因此需要辅助干预。
我们报告了一例男性婴儿，他患有脑室-腹腔分流术和影像学脉络丛增生，因无法将大量 CSF 引流到腹部而导致大量腹部积水，来我院就诊。
该患儿接受了内镜第三脑室造瘘术和脉络丛凝固术治疗；然而，他仍需要通过脑室心房分流术进行 CSF 引流。基因检测显示染色体 9 四倍体。我们讨论了治疗策略的选择标准，包括内镜第三脑室造瘘术联合脉络丛凝固术和/或 CSF 引流术，这可能有助于预防因脉络丛增生导致的脑积水患者在特定情况下需要再次手术。
