[A case of von Hippel-Lindau disease diagnosed at the autopsy].
A 46-year-old woman presents with walk instability. A diagnosis of cerebellar hemangioblastoma is made on MRI and neurosurgical excision was performed. In the postoperative course, the patient died of a bulbar cerebral stroke with respiratory distress. At the autopsy, the finding of a bilateral renal clear cell carcinoma in addition to the cerebellar hemangioblastoma allows for the diagnosis of von Hippel-Lindau disease. It is an inherited, autosomal dominant syndrome charaterized by a VHL gene mutation. Affected individuals are at risk of developing various benign and malignant tumors of multiple organs, reviewed in this article. Despite a decrease of number of necropsy, this case as the review of literature demonstrates clinical importance of autopsy.
D'Haene
N
N
Service d'Anatomie Pathologique, Hôpital Erasme, Bruxelles.
Salik
D
D
Hanset
M
M
Salmon
I
I
D001344:Autopsy; D005260:Female; D006801:Humans; D008875:Middle Aged; D006623:von Hippel-Lindau Disease / Q000473:pathology*