Von Hippel–Lindau syndrome (VHL) with multiple posterior fossa and spinal hemangioblastomas

Case contributed by Mustafa Takesh


Imaging for known condition.

Patient Data

Age: 50 years
Gender: Male

Selected images demonstrating four contrast-enhancing nodules, located bilaterally in cerebellar hemispheres, one of them is associated with a large cystic component with some mass effect on the fourth ventricle.

This patient had known von Hippel-Lindau disease and went on to have a craniotomy. 

Follow up MRI (10 years later) demonstrating post-operative changes after remote resection of the large cystic lesion, previously seen left in the inferior posterior fossa. A new enhancing nodule, seen in right upper cerebellar hemisphere along the tentorial leaflet with new development of a large cystic component, causing some mass effect on the fourth ventricle.

In addition, there is a left-sided mass most likely representing an endolymphatic sac tumor, with mild interval progression.

Selected images demonstrating numerous nodular enhancing lesions in the cervical cord, extending from C4 to upper T1 level, some with cystic components in keeping with hemangioblastomas. There is associated significant vasogenic edema, extending inferiorly in the upper thoracic cord.

Case Discussion

50-year-old gentleman presented for follow up related to known von Hippel-Lindau disease. It was demonstrated that he had a large cystic mass in the posterior fossa, that was resected and turned out to be a capillary hemangioblastoma.  

MRI of the cervical spine showed evidence of multiple enhancing lesions in the cervical cord, corresponding to hemangioblastomas.  

In the continued follow up a pancreatic mass was found (not shown), for which the patient underwent a Whipple procedure and that confirmed a neuroendocrine tumor.  A Bosniak 2F renal cyst was also detected. 

Von Hippel-Lindau disease is an uncommon autosomal dominant inherited syndrome, in which posterior fossa and spinal hemangioblastomas are considered among the most common manifestations. Clinical symptoms appear in early adulthood.  If there is suspicion of this syndrome, MRI of the neuroaxis should be performed. 

Once the diagnosis is reached, an annual follow-up, as well as screening of the family members, is recommended. Multidisciplinary coordination is an essential part in the follow-up, as intraabdominal organs such as the kidneys, adrenal glands and pancreas might be involved. 

This case points out the importance of examining the total spine for the presence of multiple posterior fossa hemangioblastomas, which in turn should raise suspicions of VHL. 

Case contributed by Dr. Carlos Torres, Assistant Professor in the Radiology at McGill University.  

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