Posters
Presentation Type
Poster
Discipline Track
Clinical Science
Abstract Type
Case Report
Abstract
Background: Von Hippel-Lindau (VHL) is a hereditary autosomal dominant disease that affects several organs, characterized by the presence of cysts and tumors, more commonly associated with the central nervous system, eyes, and visceral organs. Prevalence in the US is estimated to be 1 per 30,000.
In this case, we present a 31 year old male from an underserved population in the Rio Grande Valley, presenting with multiple cerebellar and visceral lesions. The rarity of genetic disorders proves to be a diagnostic and management challenge.
Case Presentation: The case is about a 31 year old male with no apparent past medical history who presented to an outpatient clinic for establishment of care. The patient had a past surgical history that included an unspecified benign tumor of his left eye, for which he underwent enucleation. The patient’s family history was positive for Von Hippel-Linda’s in his father, who passed away from a brain tumor that was complicated with an intracranial hemorrhage.
The patient followed-up in Mexico with yearly surveillance with abdominal ultrasounds and head CT scans. The patient had been to his primary care physician in Mexico, who told him he had a renal mass in his right kidney after undergoing a surveillance abdominal ultrasound. At the time of that visit, the patient was only complaining of intermittent dysuria, without associated fevers, chills, suprapubic tenderness, costovertebral angle tenderness or hematuria.
During that visit, the patient had a CBC, BMP, CT of the abdomen, and MRI of the brain. Laboratory testing was unremarkable, however, CT of the abdomen reported presence of a mass in the pancreatic tail measuring 1.8 x 2.7 cm, a right renal mass consistent with renal cell carcinoma (RCC), and additional enhancing lesion in the left kidney, also suggesting RCC. MRI of the brain showed bilateral cerebellar punctuate masses in the upper and lower sides of the cerebellum measuring 3mm each, and upper left cerebellum mass measuring 6.5mm, and a left lower cerebellum mass measuring 3mm.
The patient was contacted for results, and referred for Urology for evaluation of RCC, and referred to Neurosurgery for evaluation of cerebellar masses. Additionally, the patient was referred to Hepatobiliary Surgery for evaluation. Gastroenterology was also consulted for possible fine needle aspiration of pancreatic masses via Endoscopic Ultrasound (EUS).
Conclusion: The diagnostic evaluation of genetic disorders should be individualized according to the history and physical examination findings of the patient. Physicians should have low threshold of suspicion for Von Hippel-Lindau or other genetic disorders in patients presenting with multiple cysts or masses. History taking and physical examination are still a crucial part of medicine, despite the advances of the digital era, as patients can be asymptomatic, despite having multiple affected organs. Management can be challenging, given the rarity of the disease. Further research on similar cases is needed to establish a general recommendations.
Academic/Professional Position
Resident
Mentor/PI Department
Internal Medicine
Recommended Citation
Sanchez, Eric; Baird Borja, Andreina; Gomez Casanovas, Jose; Fleires, Alcibiades; and Hernandez, Daniela, "Hiding in Plain Sight: Renal Cell Carcinoma due to Suspected Von Hippel-Lindau Syndrome" (2024). Research Symposium. 6.
https://scholarworks.utrgv.edu/somrs/2023/posters/6
Included in
Hiding in Plain Sight: Renal Cell Carcinoma due to Suspected Von Hippel-Lindau Syndrome
Background: Von Hippel-Lindau (VHL) is a hereditary autosomal dominant disease that affects several organs, characterized by the presence of cysts and tumors, more commonly associated with the central nervous system, eyes, and visceral organs. Prevalence in the US is estimated to be 1 per 30,000.
In this case, we present a 31 year old male from an underserved population in the Rio Grande Valley, presenting with multiple cerebellar and visceral lesions. The rarity of genetic disorders proves to be a diagnostic and management challenge.
Case Presentation: The case is about a 31 year old male with no apparent past medical history who presented to an outpatient clinic for establishment of care. The patient had a past surgical history that included an unspecified benign tumor of his left eye, for which he underwent enucleation. The patient’s family history was positive for Von Hippel-Linda’s in his father, who passed away from a brain tumor that was complicated with an intracranial hemorrhage.
The patient followed-up in Mexico with yearly surveillance with abdominal ultrasounds and head CT scans. The patient had been to his primary care physician in Mexico, who told him he had a renal mass in his right kidney after undergoing a surveillance abdominal ultrasound. At the time of that visit, the patient was only complaining of intermittent dysuria, without associated fevers, chills, suprapubic tenderness, costovertebral angle tenderness or hematuria.
During that visit, the patient had a CBC, BMP, CT of the abdomen, and MRI of the brain. Laboratory testing was unremarkable, however, CT of the abdomen reported presence of a mass in the pancreatic tail measuring 1.8 x 2.7 cm, a right renal mass consistent with renal cell carcinoma (RCC), and additional enhancing lesion in the left kidney, also suggesting RCC. MRI of the brain showed bilateral cerebellar punctuate masses in the upper and lower sides of the cerebellum measuring 3mm each, and upper left cerebellum mass measuring 6.5mm, and a left lower cerebellum mass measuring 3mm.
The patient was contacted for results, and referred for Urology for evaluation of RCC, and referred to Neurosurgery for evaluation of cerebellar masses. Additionally, the patient was referred to Hepatobiliary Surgery for evaluation. Gastroenterology was also consulted for possible fine needle aspiration of pancreatic masses via Endoscopic Ultrasound (EUS).
Conclusion: The diagnostic evaluation of genetic disorders should be individualized according to the history and physical examination findings of the patient. Physicians should have low threshold of suspicion for Von Hippel-Lindau or other genetic disorders in patients presenting with multiple cysts or masses. History taking and physical examination are still a crucial part of medicine, despite the advances of the digital era, as patients can be asymptomatic, despite having multiple affected organs. Management can be challenging, given the rarity of the disease. Further research on similar cases is needed to establish a general recommendations.