Rev Assoc Med Bras (1992)
November 2020
Introduction: Acute appendicitis (AA) is the most common cause of surgical acute abdomen. Postoperative complications in emergency care are reflections of the surgical procedure and pre- and postoperative factors.
Objective: Define prognostic factors for patients who underwent appendectomy, comparing them with the literature.
von Hippel-Lindau syndrome (VHLS) is a rare, autosomal dominant genetic disease with high penetrance and variable phenotypic expression caused by variants in the gene. VHLS is associated with the presence of vascular tumors, often hemangioblastoma of the central nervous system, retina, or spinal cord and, less frequently, pancreatic cystic neoplasm, pancreatic neuroendocrine tumor, clear cell carcinoma of the kidney, endolymphatic sac tumor, pheochromocytoma, and paraganglioma. The authors report a case of a patient with VHLS with a rare pathogenic variant in the gene and with an optic nerve hemangioblastoma, a rare phenotypic expression.
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