Javadi Seyed Hamidreza, Habibi Seyed Amir Hassan, Sedaghat Ahad, Naseripour Masood, Yousefi Mohammad
Department of Neurology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Eye Research Center, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
J Kidney Cancer VHL. 2024 May 17;11(2):12-17. doi: 10.15586/jkcvhl.v11i2.313. eCollection 2024.
This study aimed to assess the prevalence of neurological symptoms and related imaging findings in patients with von Hippel-Lindau (VHL) at Rasool Akram Hospital from September 2018 to September 2021. This analytical observational study examined eligible patients over the period from September 2018 to September 2021. We collected demographic information (age, gender) along with imaging findings and results of neurological and eye examinations. Comparison between qualitative variables was also done using the Chi-square test or Fisher's exact test. Also, an independent -test was used to compare quantitative variables between the two groups. SPSS version 22 software was used for statistical analysis of data. A significant level was considered less than or equal to 0.05. Of the 54 examined patients (48.1% were male and 51.9% were female) with an average age of 36.42 ± 13.37 years. A significant majority (87.0%) reported a positive family history of the disease. The most common type of disease was Type 1 observed in 94.4% of cases and Type 2A was the next most frequent (3.7%). The most common pattern of retinal pathological lesions seen in the examination was related to bilateral lesions (79.6%). The most common pathological finding was related to the presence of a mass in cerebellar magnetic resonance imaging (48.1%). Considering the findings of the present study, which highlight a significant frequency of bilateral retinal lesions as well as masses in the central nervous system and endocrine system, it is evident that patients require careful follow-up and various interventions after being diagnosed with the disease. This approach is essential to manage and potentially mitigate the complications associated with these conditions.
本研究旨在评估2018年9月至2021年9月在拉苏勒·阿克拉姆医院就诊的冯·希佩尔-林道（VHL）病患者的神经症状患病率及相关影像学表现。这项分析性观察研究对2018年9月至2021年9月期间符合条件的患者进行了检查。我们收集了人口统计学信息（年龄、性别）以及影像学表现和神经及眼科检查结果。定性变量之间的比较也采用卡方检验或费舍尔精确检验。此外，使用独立t检验比较两组之间的定量变量。数据的统计分析使用SPSS 22版软件。显著性水平设定为小于或等于0.05。在54例接受检查的患者中（48.1%为男性，51.9%为女性），平均年龄为36.42±13.37岁。绝大多数（87.0%）报告有该病的家族病史阳性。最常见的疾病类型是1型，在94.4%的病例中观察到，2A型次之（3.7%）。检查中最常见的视网膜病理病变模式与双侧病变有关（79.6%）。最常见的病理发现与小脑磁共振成像中出现肿块有关（48.1%）。考虑到本研究的结果，其突出了双侧视网膜病变以及中枢神经系统和内分泌系统肿块的高发生率，显然患者在被诊断出该病后需要仔细随访和各种干预措施。这种方法对于管理并潜在减轻与这些病症相关的并发症至关重要。
