Fatal Septic Shock with Presumed Urinary Source in a Patient with Clinically Suspected, Previously Undiagnosed Von Hippel–Lindau Disease: A Case Report and Literature Review

Abstract

Background: Von Hippel-Lindau disease is a rare form of autosomal dominant cancer syndrome that affects multiple organs, such as the retina and brain hemangioblastoma, renal disease, and other visceral malignancies. Delayed diagnosis is a significant reason for avoidable mortality and morbidity.

Case Presentation: We present a case of a 47-year-old male presenting with fever, vomiting, hypotension, and pus discharge from his urethral catheter, developing into septic shock with multiple organ dysfunction syndrome. He had several decades of progressive symptoms clinically compatible with possible VHL syndrome, consisting of bilateral blindness secondary to globe enucleations performed since childhood, multifocal spinal cord lesions resulting in quadriparesis and neurogenic bladder, and a family history of retinoblastoma, brain tumors, and renal lesions. MRI of the spine showed extensive multifocal intramedullary enhancing lesions, from the cervicomedullary junction to T11, associated with dilated cord due to cystic changes, compression of the posterior medulla leading to obstructive hydrocephalus, and an occipital lesion. These findings favored multiple spinal hemangioblastomas. A corticomedullary cyst of the right kidney was seen. Despite intensive supportive therapy and appropriate broad-spectrum antibiotics, he succumbed to septic shock complicated by a presumed urinary source on hospital day 4.

Conclusion: This particular case illustrates the potential of unidentified genetic tumors resulting in significant neurological problems and infections leading to death. Early detection of multifocal hemangioblastomas and retinal problems can lead to early identification of patients at risk of developing VHL disease.