Background: Von Hippel-Lindau disease (also known as VHL syndrome), is an autosomal dominant inherited disease. We describe a sporadic case of VHL syndrome where bilateral pheochromocytomas were unexpectedly identified. The patient underwent selective laparoscopic resections of the pheochromocytomas, and the anesthetic management during surgery was complex and challenging.
Case Summary: A 22-year-old man presented to our hospital to seek medical advice for infertility without any other complaints. The results of computed tomography and catecholamine levels in blood and urine demonstrated adrenal gland masses which were diagnosed as pheochromocytomas. Further examination confirmed that the patient also had VHL syndrome. After thorough preparation, the patient underwent selective laparoscopic resection of the pheochromocytomas and was discharged 10 d after surgery. We describe the process of perioperative anesthesia management in this patient undergoing pheochromocytoma resection.
Conclusion: This case summaries specific clinical traits and considerations in perioperative anesthesia management for VHL syndrome patients undergoing bilateral pheochromocytoma resection.
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http://dx.doi.org/10.12998/wjcc.v9.i15.3711 | DOI Listing |
J Vitreoretin Dis
December 2024
Dartmouth Hitchcock Medical Center, Department of Surgery, Ophthalmology Section, Lebanon, NH, USA.
To describe the efficacy of belzutifan as a treatment for juxtapapillary retinal hemangioblastomas in patients with von Hippel-Lindau disease. A case and its findings were analyzed, and a systematic literature review was conducted using PubMed and Ovid MEDLINE. At a routine follow-up, a 63-year-old woman with a history of von Hippel-Lindau disease and slowly progressive bilateral juxtapapillary retinal hemangioblastomas presented with decreased visual acuity (VA) in the right eye resulting from significant lesion growth and an increase in central macular edema and exudate.
View Article and Find Full Text PDFSci Rep
December 2024
Department of Chemistry and Biochemistry, Northern Arizona University, Flagstaff, AZ, USA.
Idiopathic pulmonary fibrosis (IPF) is a fatal disease defined by a progressive decline in lung function due to scarring and accumulation of extracellular matrix (ECM) proteins. The SOCS (Suppressor Of Cytokine Signaling) domain is a 40 amino acid conserved domain known to form a functional ubiquitin ligase complex targeting the Von Hippel Lindau (VHL) protein for proteasomal degradation. Here we show that the SOCS conserved domain operates as a molecular tool, to disrupt collagen and fibronectin fibrils in the ECM associated with fibrotic lung myofibroblasts.
View Article and Find Full Text PDFClin Endocrinol (Oxf)
December 2024
Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission of the People's Republic of China, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Objectives: Pheochromocytomas and paragangliomas (PPGLs) are manifestations of von Hippel-Lindau (VHL) disease. This study aims to describe the clinical features of PPGLs in VHL patients and the distinctions between VHL disease-related PPGLs and sporadic PPGLs.
Design, Patients And Measurements: The study included all patients with VHL disease and PPGLs treated in a single centre from 2007 to 2023.
Retin Cases Brief Rep
May 2024
Retina Vitreous Consultants.
Purpose: To demonstrate the response of a juxtapapillary retinal hemangioblastoma (JRH) to belzutifan in a patient with Von-Hippel-Lindau syndrome (VHL).
Methods: This case report includes fundus photography and optical coherence tomography to compare a juxtapapillary retinal hemangioblastoma (JRH) before and 24 months after treatment with belzutifan.
Results: An 18-year-old woman with VHL was diagnosed with a juxtapapillary retinal hemangioblastoma (JRH) at age 13.
Abdom Radiol (NY)
December 2024
Department of Radiology, The First Affiliated Hospital, Sun Yat-Sen University, No.58, Second Zhongshan Road, Yuexiu District, Guangzhou, Guangdong, 510080, China.
Pancreatic neuroendocrine neoplasms (pNENs) are the second most common pancreatic malignancy. While most cases are sporadic, a small proportion is associated with genetic syndromes, such as Multiple Endocrine Neoplasia (MEN), Von Hippel-Lindau Syndrome (VHL), Neurofibromatosis Type 1 (NF1), and Tuberous Sclerosis Complex (TSC). This review aims to use pNENs as a clue to reveal the full spectrum of disease, providing a comprehensive understanding of diagnosis.
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