Type 1 Diabetes Mellitus and Von Hipple Lindau Syndrome- Sweet Presentation of a Bitter Disease-A Case Report

Von Hipple-Lindau (vHL) is an autosomal dominant disorder that predisposes individuals to an increased risk of developing multi-organ neoplasms. Pancreatic involvement with subsequent development of type II diabetes mellitus is a well-documented complication of this disorder. In this case report, we present a case of a young man who presented with primary symptoms of polyuria and polydipsia. Patient was later found to be in diabetic ketoacidosis and upon further investigation, was diagnosed with diabetes mellitus type I. Patient's history of persistent abdominal pain prompted further imaging studies, which demonstrated a left sided pheochromocytoma and right sided renal cell carcinoma. Genetic studies confirmed presence of 384delT frame-shift mutation in exon 2 of the tumor suppressor, E3 ubiquitin protein ligase, vHL gene. This case report represents the only one in literature with a rare association of vHL and islet cell autoantibody positive, type I diabetes mellitus.