关键词: Choroid plexus cauterization Choroid plexus hyperplasia Chromosome 9 Endoscopic third ventriculostomy Hydrocephalus Ventriculoatrial shunt

Mesh : Choroid Plexus / pathology Chromosomes, Human, Pair 9 / genetics Humans Hydrocephalus / etiology pathology surgery Hyperplasia / complications pathology Infant Male Tetraploidy Treatment Outcome Ventriculoperitoneal Shunt Ventriculostomy

来  源:   DOI:10.1016/j.wneu.2020.05.211   PDF(Sci-hub)

Abstract:
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.
摘要:
脉络丛增生是儿童交通性脑积水的罕见原因。最近的工作已将这种疾病与遗传异常(例如9号染色体的扰动)相关联。鉴于如此广泛的脑脊液(CSF)过量生产,脉络丛增生患者的脑脊液转流常失败,因此需要辅助干预.
我们介绍了一例男婴的脑室腹膜分流和放射学脉络膜增生,该男婴因无法吸收大量脑脊液引流到腹部而出现大量腹腔积液。
该患儿接受了内镜下第三脑室造瘘术和脉络丛凝固术治疗;然而,他仍然需要通过心室心房分流术分流脑脊液。遗传检查显示9号染色体四倍体。我们讨论了选择治疗策略的标准,包括内镜下第三脑室造瘘术伴脉络丛凝固和/或脑脊液分流术,这可以防止由于脉络丛增生导致的部分脑积水患者需要再次手术。
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