MON-326 Von Hippel-Lindau Disease with Multi-Organ Involvement: A Case Report

Background: Von Hippel-Lindau Disease is an inherited disorder characterized as multi-organ system involvement of tumors or cysts occurring at different times from infancy to adulthood. It is a rare condition with a worldwide incidence of 1:50,000. There are only a few reported cases in the Philippines which reflects underdiagnosis of the disease apart from rarity. Clinical Case: A 24-year old female presented with left-sided numbness and weakness of one-month duration. There were no other co-morbidities except for an elevated blood sugar on admission. Family history was unremarkable. Dysmetria and difficulty performing tandem gait was noted on neurologic examination. Cranial MRI with contrast revealed an intensely enhancing solid nodule at the left cerebellar vermis and a non-enhancing cystic nodule at the left side of the dorsal medulla. On further review of history, a palpable epigastric mass was initially noted last 2013. Abdominal CT scan and endoscopic ultrasound biopsy demonstrated multiple benign pancreatic cysts. Due to progression of left-sided numbness and weakness, she underwent suboccipital craniotomy for excision of left cerebellar mass. Histopathology showed cerebellar hemangioblastoma. Initial impression was Von Hippel-Lindau syndrome because of the multisystem involvement of tumors and cysts. Funduscopic examination confirmed the presence of retinal hemangioblastoma. A 24-hour urine metanephrine to screen for pheochromocytoma was found to be negative. Genetic testing was advised to identify presence of specific gene mutation. She was sent home with an anti-hyperglycemic agent and advised to undergo regular monitoring for tumor or cyst progression. Conclusion: Due to its rarity and asynchronous onset of tumors and cysts in multiple organ systems, Von Hippel-Lindau disease poses a diagnostic challenge. In the present case, a good history and the high index of suspicion led to a single diagnosis which accounted for the multi-organ presentation. Hence, an early recognition translates to an early intervention reducing the associated morbidity and mortality.