Cutler Christopher B, Li Daphne, Ruge John R
1Chicago Medical School, Rosalind Franklin University of Medicine and Science, Chicago, Illinois; and.
2Department of Neurosurgery, Division of Pediatric Neurosurgery, Advocate Lutheran General Hospital, Chicago, Illinois.
J Neurosurg Case Lessons. 2023 Nov 27;6(22). doi: 10.3171/CASE23552.
Hajdu-Cheney syndrome (HCS) is an extremely rare genetic disorder characterized by severe osteoporosis, scoliosis, and persistent open cranial sutures (POCSs). Neurological complications include hydrocephalus, Chiari I malformations, and basilar invagination (BI). Surgical intervention in HCS is challenging due to severe osteoporosis, ligamentous laxity, POCSs, and extreme skeletal deformities. Herein, the authors present a case of BI repair in a patient with HCS and POCSs, requiring a novel technique of cranial vault suspension, with long-term follow-up.
A 20-year-old female with HCS and progressive symptomatic BI, initially managed with posterior fossa decompression and occipital to cervical fusion, subsequently required cranial vault expansion due to symptomatic shifting of her cranium secondary to POCS. This custom construct provided long-term stabilization and neurological improvement over a follow-up duration of 9.5 years. A literature review performed revealed three other cases of surgical intervention for BI in patients with HCS and clinicopathological characteristics of each case was compared to the present illustrative case.
POCSs in patients with BI complicate traditional surgical approaches, necessitating more invasive techniques to secure all mobile cranial parts for optimal outcomes. Using this cranial vault suspension and fusion technique results in lasting neurological improvement and construct stability.
哈伊杜-切尼综合征（HCS）是一种极为罕见的遗传性疾病，其特征为严重骨质疏松、脊柱侧弯和持续性颅骨缝未闭（POCS）。神经并发症包括脑积水、Chiari I畸形和基底凹陷（BI）。由于严重骨质疏松、韧带松弛、POCS和极端骨骼畸形，HCS的手术干预具有挑战性。在此，作者报告一例HCS和POCS患者的BI修复病例，该病例需要一种新型的颅顶悬吊技术，并进行长期随访。
一名20岁患有HCS和进行性症状性BI的女性，最初接受后颅窝减压和枕颈融合治疗，随后因POCS导致颅骨出现症状性移位而需要进行颅顶扩张。这种定制结构在9.5年的随访期内提供了长期稳定并改善了神经功能。进行的文献综述显示，还有另外3例HCS患者接受BI手术干预的病例，并将每个病例的临床病理特征与本说明性病例进行了比较。
BI患者的POCS使传统手术方法变得复杂，需要更具侵入性的技术来固定所有可移动的颅骨部分以获得最佳效果。使用这种颅顶悬吊和融合技术可带来持久的神经功能改善和结构稳定性。
