Alsahlawi Aysha, Ekhzaimy Aishah, Alshowair Daniah, Ajlan Abdulrazag
Department of Neurosurgery, King Fahad Medical City, Saudi Arabia.
King Khalid University Hospital, King Saud University, Saudi Arabia.
World Neurosurg. 2017 Dec;108:991.e1-991.e5. doi: 10.1016/j.wneu.2017.08.146. Epub 2017 Sep 1.
Osteopetrosis is a heterogeneous group of uncommon congenital disorders that causes bony sclerosis and remodeling. Patients who are symptomatic can show significant neurologic consequences with the involvement of cranial nerves and symptoms of increased intracranial pressure (ICP).
We report an unusual case of a 26-year-old woman with an autosomal-dominant type of osteopetrosis who presented with headache and severe visual deterioration, both attributed to increased ICP. A hemicranioplasty was preformed, resulting in the resolution of her symptoms of ICP and stabilization of her vision. Postoperative imaging showed expansion of the ventricles and the subarachnoid spaces with an improvement of the associated cerebellar herniation.
In conclusion, in patients with symptomatic osteopetrosis, cranioplasty can be considered as an option to treat high ICP-related symptoms.
骨质石化症是一组异质性的罕见先天性疾病,可导致骨质硬化和重塑。有症状的患者可出现明显的神经学后果,累及颅神经并出现颅内压(ICP)升高的症状。
我们报告了一例不寻常的病例,一名26岁常染色体显性遗传型骨质石化症女性患者,出现头痛和严重视力减退,均归因于颅内压升高。进行了颅骨成形术,使她的颅内压症状得到缓解,视力稳定。术后影像学检查显示脑室和蛛网膜下腔扩大,相关小脑疝有所改善。
总之,对于有症状的骨质石化症患者,颅骨成形术可被视为治疗与颅内压升高相关症状的一种选择。