Johnson Ryan M, O'Neill Brent R
1Department of Neurological Surgery, Carle BroMenn Medical Center, Bloomington, Illinois; and.
2Department of Neurosurgery, Children's Hospital Colorado, Aurora, Colorado.
J Neurosurg Pediatr. 2020 Aug 14;26(5):513-516. doi: 10.3171/2020.5.PEDS20218. Print 2020 Nov 1.
Hajdu-Cheney syndrome (HCS) is a rare genetic disorder with autosomal dominant inheritance, although most cases result from de novo mutations. Progressive platybasia and basilar impression (BI) can potentiate obstructive hydrocephalus due to aqueductal stenosis. Limited literature exists on the surgical intervention for hydrocephalus in patients with this condition. The authors present (to their knowledge) the first case of obstructive hydrocephalus due to aqueductal stenosis from BI treated with an endoscopic third ventriculostomy in a patient with the complex anatomy of HCS.
哈伊杜-切尼综合征（HCS）是一种罕见的常染色体显性遗传疾病，不过大多数病例是由新发突变引起的。进行性扁平颅底和颅底凹陷（BI）可因导水管狭窄而导致梗阻性脑积水。关于这种情况下脑积水的手术干预的文献有限。作者（据他们所知）报告了首例因BI导致导水管狭窄引起的梗阻性脑积水，该患者具有HCS复杂的解剖结构，采用内镜下第三脑室造瘘术进行治疗。
