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Endolymphatic sac tumors are very rare tumors (adenomas) arising at the interface between the posterior fossa and the petrous temporal bone. Hemangioblastoma lesions in spinal cord and cerebellum in patient with Von Hippel Lindau disease, who also had an endolymphatic sac tumor.
Some of these tumors are associated with von Hippel Lindau disease (VHL), which is characterized by angiomatosis of the retina and cerebellum and similar lesions in other organs. Damage is due to destruction of the ear and involvement of close by neurological structures.


Radiological studies show temporal bone destruction with a tumor centered in the retrolabyrinthine petrous bone above the jugular bulb at the interface between the posterior fossa dura and petrous temporal bone.
VHL is an inherited disorder associated with cysts in the kidneys, pancreas and male genital tract.
MRI scans of large tumors show hyper and hypointensity on both T1 and T2 images with strong post-gadolinium enhancement. Agressive papillary adenoma of the cerebellopontine angle: Case report of an endolymphatic sac tumor. There is also an increased risk of developing clear-cell renal cell carcinoma as well as pheochormocytoma.


VHL is inherited in an autosomal dominant fashion, but two copies of the mutation are needed to cause the disorder.
A second mutation can occur during a person's lifetime in a particular cell, which allows tumors and cysts to develop.



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