Von Hippel-Lindau syndrome presenting with right ear purulent otorrhea as the initial manifestation:a case report
WANG Chang
JIN Xuemei
JIN Guangyu
Abstract：Objective To explore the imaging features of Von Hippel-Lindau(VHL)syndrome to enhance under-standing of the disease and provide guidance for clinical diagnosis and treatment.Methods A retrospective analysis of CT and MRI manifestations was conducted in a case of VHL syndrome with right ear purulent otorrhea as the initial manifesta-tion.Results The case revealed involvement of multiple organs and systems.CT scan of the ear and mastoid showed soft tis-sue and diffuse bone destruction in the right petrous part of the temporal bone and mastoid.Plain and enhanced MRI exhib-ited mixed signal on T1WI,with heterogeneous and significant enhancement.Additionally,CT scan depicted calcification in the left eye ring and vitreous body,along with irregular soft tissue in the eyeball which was significantly enhancement on en-hanced MRI.Plain and enhanced MRI of the cervical spine showed a cystic and solid mass in the dorsal medulla oblongata,and the solid component showed disc-shaped obvious enhancement,accompanied by spinal degeneration and syringomyelia.Enhanced CT of the abdomen showed the right renal mass was heterogeneously enhanced,as well as significant enhancement of the bilateral adrenal glands and pancreatic nodules.Conclusion VHL syndrome may initially present with ear symptoms,and clinicians should consider the possibility of this disease when ear lesions are observed alongside other organ pathologies.Utilizing a combination of CT and MRI imaging modalities can facilitate the early diagnosis of VHL syndrome.
Keywords：Endolymphatic sac tumorVon Hippel-Lindau syndromeMagnetic resonance imagingTomographyX-ray computed
Publication Date：2024-07-15
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 488-490 )