以右耳流脓为首发表现的Von Hippel-Lindau综合征1例

Von Hippel-Lindau syndrome presenting with right ear purulent otorrhea as the initial manifestation:a case report

目的探讨Von Hippel-Lindau(VHL)综合征的影像学特点,以提高对该疾病的认识,为临床诊治提供指导。方法回顾性分析1例以右耳流脓为首发症状的VHL综合征病人的CT、MRI表现。结果病人有多器官、多系统受累。耳乳突CT平扫示右侧颞骨岩部及乳突软组织影及弥漫骨质破坏,MRI平扫及增强示T1WI混杂信号,增强后呈不均匀性显著强化;CT平扫示左眼环及玻璃体钙化,眼球内见不规则软组织影,MRI增强示病灶局部显著强化。颈椎MRI平扫及增强示延髓背侧囊实性占位,实性部分呈圆盘状明显强化,伴颈髓变性及空洞。腹部增强CT示右肾占位强化不均,双肾上腺及胰腺结节呈明显强化。结论VHL综合征可以耳部症状为首发表现,当发现耳部病变同时伴其他部位病变时,应考虑该病的可能。CT及MRI结合有助于对VHL综合征早期诊断。

Objective To explore the imaging features of Von Hippel-Lindau(VHL)syndrome to enhance understanding 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 manifestation.Results The case revealed involvement of multiple organs and systems.CT scan of the ear and mastoid showed soft tissue and diffuse bone destruction in the right petrous part of the temporal bone and mastoid.Plain and enhanced MRI exhibited 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 enhanced 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.