Almubarak Abdulaziz Oqalaa, Haq Anwar Ul, Alzahrani Ibrahim, Shail Essam Al
Division of Neurosurgery, Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Neuroscience Department, Prince Mohammed Medical City, Jouf, Saudi Arabia.
J Neurol Surg A Cent Eur Neurosurg. 2019 Mar;80(2):134-137. doi: 10.1055/s-0038-1670636. Epub 2018 Dec 5.
Lhermitte-Duclos disease is a rare condition with less than 250 cases reported in the literature. It was considered a neoplastic or hamartomatous growth in the cerebellum. It commonly presents with symptoms of high intracranial pressure or obstructive hydrocephalus. Surgical resection is often curative. The lesion is associated with PTEN gene mutation, and it is considered to be one of the diagnostic criteria of Cowden's syndrome. Vascular tumors are reported in this syndrome, including glioblastomas and meningiomas. Furthermore, central nervous system vascular lesions were also reported in Lhermitte-Duclos disease, such as deep venous anomalies and brain arteriovenous fistulas. A report of an asymptomatic spinal cervical AVF in a patient with Lhermitte-Duclos disease was published in 2006. We present the second case of Lhermitte-Duclos disease associated with an asymptomatic spinal cervical AVF in a 17-year-old young woman with literature review of central nervous system vascular lesions in Lhermitte-Duclos disease.
Lhermitte-Duclos病是一种罕见疾病,文献报道的病例不足250例。它被认为是小脑的一种肿瘤性或错构瘤性生长。其常见症状为颅内压增高或梗阻性脑积水。手术切除通常可治愈。该病变与PTEN基因突变有关,被认为是考登综合征的诊断标准之一。该综合征中报道有血管肿瘤,包括胶质母细胞瘤和脑膜瘤。此外,Lhermitte-Duclos病中也报道有中枢神经系统血管病变,如深部静脉异常和脑动静脉瘘。2006年发表了一篇关于一名Lhermitte-Duclos病患者无症状颈椎动静脉瘘的报告。我们报告了第二例Lhermitte-Duclos病合并无症状颈椎动静脉瘘的病例,患者为一名17岁年轻女性,并对Lhermitte-Duclos病中枢神经系统血管病变进行了文献综述。