Dhamija Bhoresh, Pettorini Benedetta Ludovica, Solanki Guirish
Department of Paediatric Neurosurgery, Birmingham Children's Hospital, Birmingham, UK.
Childs Nerv Syst. 2011 Nov;27(11):1861-5. doi: 10.1007/s00381-011-1474-1. Epub 2011 May 7.
Osteopetrosis is a heterogenous group of disorders characterised by a failure of normal bone maturation and abnormal bone sclerosis secondary to the failure of osteoclasts to resorb bone. The most serious consequences of this disorder affect the nervous system. Patients with infantile osteopetrosis (also called malignant osteopetrosis) can develop a gradual occlusion of, or narrowing of the skull foramina at the skull base, resulting in the compression of vital nerves and vessels. Hydrocephalus has been identified in these patients, particularly those with the autosomal recessive variety of osteopetrosis. Although the exact aetiology is uncertain, it is possible that venous outflow obstruction at the cranial foramina along with a reduced intracranial space for cerebrospinal fluid (CSF) to flow around the hemispheres could be contributing factors. There are few reports in the literature on the management of this unusual association, hydrocephalus secondary to osteopetrosis. The authors report one such case where this association has been successfully surgically treated with endoscopic third ventriculostomy as a form of CSF diversion.
We successfully treated a 9-month-old girl with osteopetrosis and symptomatic hydrocephalus with an endoscopic third ventriculostomy (ETV). She later went on to have stem cell transplantation to treat the osteopetrosis.
Most reports in the literature have identified ventriculoperitoneal (or other distal site) shunting as the treatment of choice for hydrocephalus in this setting. We would like to highlight that ETV is another effective and often very suitable method of CSF diversion in these patients.
骨质石化症是一组异质性疾病，其特征是正常骨成熟失败，破骨细胞无法吸收骨导致异常骨硬化。这种疾病最严重的后果影响神经系统。婴儿型骨质石化症（也称为恶性骨质石化症）患者可能会逐渐出现颅底颅骨孔闭塞或狭窄，导致重要神经和血管受压。在这些患者中已发现脑积水，尤其是那些常染色体隐性遗传型骨质石化症患者。虽然确切病因尚不确定，但颅骨孔处静脉流出受阻以及脑脊液（CSF）在半球周围流动的颅内空间减少可能是促成因素。关于这种不寻常关联，即骨质石化症继发脑积水的治疗，文献报道很少。作者报告了一例通过内镜下第三脑室造瘘术作为脑脊液分流形式成功进行手术治疗的此类病例。
我们成功地用内镜下第三脑室造瘘术（ETV）治疗了一名患有骨质石化症和症状性脑积水的9个月大女孩。她后来接受了干细胞移植以治疗骨质石化症。
文献中的大多数报告已确定脑室腹腔（或其他远端部位）分流是这种情况下脑积水的首选治疗方法。我们想强调的是，ETV是这些患者脑脊液分流的另一种有效且通常非常合适的方法。
