Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1177/10668969221118326 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Von Hippel-Lindau disease with ocular and multiple systemic findings.
BMJ Case Rep
November 2024
Ophthalmology, Mata Gujri Memorial Medical College and LSK Hospital, Kishanganj, Bihar, India.
Article Synopsis
- Von Hippel-Lindau is a rare genetic disorder with an autosomal dominant inheritance pattern, leading to multiple vascular tumors, especially in the brain, eyes, and organs.
- The disease can manifest at any age, with retinal tumors often being one of the first signs; MRI and fluorescein angiography are key diagnostic tools.
- A case study highlights a woman in her late 30s with vision loss, revealing various eye and kidney abnormalities, including cystic lesions in her brain and elevated urine protein levels.
Unique properties of clinical manifestation and magnetic resonance imaging for differential diagnosis of optic nerve hemangioblastoma.
Eye (Lond)
December 2024
Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University; Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, China.
Background: To investigate the unique properties of clinical manifestation and radiological imaging for differential diagnosis of optic nerve hemangioblastoma (ONH) from adult optic nerve glioma (ONG) prior to surgical resection.
Methods: ONH and adult ONG patients were recruited from 2012 to 2022.
Results: A total of seven ONH patients (8 eyes) and 23 adult ONG patients (24 eyes) were assessed.
Article Synopsis
- - The LITESPARK-004 study is testing the hypoxia-inducible factor-2α inhibitor, belzutifan, for its effectiveness in treating tumors associated with von Hippel-Lindau disease, specifically focusing on patients with central nervous system (CNS) haemangioblastomas after additional follow-up.
- - A total of 61 patients, with a majority having CNS haemangioblastomas, were enrolled in this phase 2 study across multiple cancer centers in four countries, and they received oral belzutifan until there were unacceptable side effects or disease progression.
- - The study assesses the antitumor activity by evaluating patient responses using two different methods based on tumor measurements and is ongoing, with results still being
A case report of cerebellar hemangioblastoma simulated brain metastasis shown by magnetic resonance imaging.
Medicine (Baltimore)
February 2024
Department of Neurosurgery, People's Hospital of Dingzhou, Dingzhou, China.
Rationale: Hemangioblastomas occur both sporadically and as an important component of von Hippel-Lindau (VHL) disease. The typical MRI features of hemangioblastoma are cysts with enhanced cystic wall nodules in the cerebellum or lesions with uniform enhancement on the surface or inside the spinal cord. If there is edema around hemangioblastoma, it is easy to be misdiagnosed as brain metastasis on MRI.
View Article and Find Full Text PDFA nonsense mutation in causing Von Hippel-Lindau syndrome in a large Chinese family-a genetic study of familial neoplastic disease.
Int J Neurosci
January 2025
Department of Neurosurgery, Beijing Ditan Hospital, Capital Medical University, Beijing, China.
Von Hippel-Lindau (VHL) syndrome is a multi-organ neoplastic disease characterized by highly vascular and cystic tumors in the central nervous system (CNS), retina, and visceral lesions, which are mainly caused by germline mutations in . We aimed to detect novel mutations in gene in families with VHL. Here, a large consanguineous four-generation family with variant phenotypes of VHL syndrome was recruited, and its molecular genetics were tested Sanger sequencing.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!