Prevalence of Neurological Symptoms and Imaging Findings in Von Hippel–Lindau Patients Referred to Rasool Akram Hospital, 2018–2021

TL;DR

This study examined neurological symptoms and imaging results in von Hippel-Lindau patients, finding common retinal and cerebellar issues.

Contribution

The study provides insights into the prevalence of specific neurological and imaging findings in VHL patients in a specific hospital setting.

Findings

Bilateral retinal lesions were observed in 79.6% of patients.

Cerebellar masses were found in 48.1% of MRI scans.

Type 1 VHL was the most common disease type at 94.4%.

Abstract

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 t-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.