Department of Neurosurgery, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, Gifu, 501-1194, Japan.
Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
Childs Nerv Syst. 2021 Dec;37(12):3907-3911. doi: 10.1007/s00381-021-05129-4. Epub 2021 Mar 29.
Hydrocephalus, a complication of achondroplasia, requires treatment when it is symptomatic. Hydrocephalus associated with achondroplasia is often treated with ventriculoperitoneal shunting, and endoscopic third ventriculostomy (ETV) is rarely performed in these patients. Here, we report the case of an 18-month-old boy with achondroplasia and progressive hydrocephalus who underwent ETV. He had a family history of achondroplasia and was diagnosed with achondroplasia at birth. Magnetic resonance imaging (MRI) at the age of 1 month showed no hydrocephalus. At the age of 15 months, he was admitted to our hospital due to increased head circumference. He had developmental delays, and MRI showed hydrocephalus with ballooning of the third ventricle. The ETV success score was 80 points; therefore, we performed ETV. Postoperatively, the progression of head circumference increase was controlled. The ventricular size remained unchanged on MRI at 13 months after surgery. Recently, an association between non-communicating hydrocephalus and achondroplasia has been reported. Depending on age and imaging findings, ETV may be effective in some patients with achondroplasia with hydrocephalus.
脑积水中，软骨发育不全的并发症，需要在出现症状时进行治疗。软骨发育不全伴发的脑积水通常采用脑室-腹腔分流术治疗，而内镜下第三脑室造瘘术（ETV）在这些患者中很少进行。在这里，我们报告了一例 18 个月大的软骨发育不全伴进行性脑积水男孩行 ETV 的病例。他有软骨发育不全的家族史，出生时即被诊断为软骨发育不全。1 个月大时的磁共振成像（MRI）显示无脑积水。15 个月大时，因头围增大而入院。他有发育迟缓，MRI 显示脑积水，第三脑室呈气球样扩张。ETV 成功评分 80 分；因此，我们进行了 ETV。术后，头围增大的进展得到了控制。术后 13 个月 MRI 显示脑室大小无变化。最近，有研究报道非交通性脑积水与软骨发育不全之间存在关联。根据年龄和影像学表现，ETV 可能对一些伴有脑积水的软骨发育不全患者有效。
