This gadolinium CT of a 30 year old patient shows a well-circumscribed capillary-rich benign neoplasm. Unfortunately, he is at risk for developing multiple such tumors, usually infratentorial. His past medical history is notable for retinal detachment due to "bleeding from a tumor" several years ago. He is also being seen by ENT doctors for some sort of problem with his temporal bone which has caused hearing loss and tinnitus. Family history is notable for father dying of clear cell renal cell carcinoma at age 60. The grandfather also had the same cancer as well as pancreatic cysts.When you present this patient to the attending, he asks you whether the patient has episodic headache, sweating, tachycardia, and hypertension.
Challenge: What's going on here?
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Von Hippel - Lindau
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ReplyDeleteooooh interesting. this was vHL but von recklinghausen is a very cool thought. von recklinghausen = NF1 and you see:
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neurofibroma
optic glioma or lisch nodules (iris hamartoma)
bony lesion
vHL presents with:
hemangioblastoma
renal cell carcinoma
pheo
middle ear lymphatic sac tumor
pancreatic tumor
cystadenoma of epididymis/broad ligament
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Oncology Consult
This is von Hippel-Lindau disease, an autosomal dominant syndrome with various benign and malignant tumors. The radiology shows a cystic lesion in the cerebellum with an enhancing nodule post-Gadolinium consistent with a hemangioblastoma. Retinal angiomas occur in 60% of VHL patients. Endolymphatic sac tumors are vascular lesions of the posterior temporal bone. Pheochromocytoma may also be seen, depending on the type of VHL disease.
Sources: UpToDate; LearningRadiology.
yea, was thinking ear tumor = acoustic neuroma. and thought of the first "von." didn't look up the HAB, RCC, pheo, although I vaguely recall that it corresponded to one of the "syndromes" or MENs.
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