Logo American Journal of Case Reports

Call: 1.631.629.4328
Mon-Fri 10 am - 2 pm EST

Contact Us

Logo American Journal of Case Reports Logo American Journal of Case Reports Logo American Journal of Case Reports

17 November 2017 : Case report  Iran

Von Hippel-Lindau Disease With Multi-Organ Involvement: A Case Report and 8-Year Clinical Course With Follow-Up

Challenging differential diagnosis, Management of emergency care, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis)

Ali Yaghobi Joybari1BDF, Payam Azadeh1BDE*

DOI: 10.12659/AJCR.907356

Am J Case Rep 2017; 18:1220-1224

Abstract

BACKGROUND: Von Hippel-Lindau (VHL) disease is a rare autosomal dominant syndrome manifested by a spectrum of benign and malignant tumors. 

CASE REPORT: The patient presented here was a 31-year-old female with unremarkable family history who presented initially complaining of intermittent abdominal pain. Abdominal CT scan revealed an inhomogeneous solid mass (13×9×7 cm) originating from the tail of the pancreas with splenic and gastric invasion as well as several pancreatic cysts. A nucleotide scan showed left adrenal involvement. The patient underwent tumor resection, splenectomy, partial gastrectomy, and left adrenalectomy. Histopathologic examination reported well-differentiated neuroendocrine carcinoma with low malignant potential of the tumor with splenic and adrenal involvement. Pancreatic cysts had benign component.  Three years later, follow-up abdominal CT showed heterogeneously-enhanced solid nodules in both kidneys found to be renal cell carcinoma (RCC) on biopsy. At the same time, brain MRI showed cerebellar hemangioblastomas. Partial nephrectomy was done. Molecular genetic testing for demonstrated NM_000551.3:c.481C > T (p.R161* CGA>TGA), which has been reported previously in VHL disease. The next year, she developed peritonitis, which found to be the result of a perforated gastric ulcer. Histopathologic examination of the ulcer revealed neuroendocrine carcinoma. Then, the next year, a brain MRI revealed 4 solid and enhanced nodules in the cerebellum, suggesting multiple hemangioblastomas. Octreotide (Sandostatin® LAR) and everolimus (Afinitor®) were started for the patient. At the last visit, the patient was asymptomatic with acceptable condition.   

CONCLUSIONS: Here, we present a young patient with pancreatic neuroendocrine tumor as the first presentation of VHL without a remarkable family history for VHL disease. The patient developed RCC, renal cysts, cardiomegaly, and brain hemangioblastomas during the 8-year follow-up. Regular follow-up with imaging (ultrasound, CT, MRI) are necessary to follow the previous lesions and detect any newly-developed VHL-associate tumors.  

Keywords: Carcinoma, Renal Cell, hemangioblastoma, neuroendocrine tumors, Pancreatic Cyst, von Hippel-Lindau disease

Add Comment 0 Comments

In Press

30 Jan 2024 : Case report  Poland

Successful Anesthetic Management for Obese Patients with Interstitial Lung Disease Undergoing Laparoscopic ...

Am J Case Rep In Press; DOI: 10.12659/AJCR.942736  

0:00

14 Mar 2024 : Case report  Latvia

Bilateral Low-Flow Type-D Dural Carotid-Cavernous Fistula: Diagnosis and Treatment with 3D Time-of-Flight M...

Am J Case Rep In Press; DOI: 10.12659/AJCR.942833  

0:00

31 Jan 2024 : Case report  China (mainland)

Gaucher Disease Coexisting with Cytomegalovirus Infection: A Rare Presentation in an Infant

Am J Case Rep In Press; DOI: 10.12659/AJCR.943398  

31 Jan 2024 : Case report  Belgium

Unconjugated Hyperbilirubinemia in Acetaminophen-Related Acute Liver Failure

Am J Case Rep In Press; DOI: 10.12659/AJCR.942703  

Most Viewed Current Articles

10 Jan 2022 : Case report  Germany

A Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...

DOI :10.12659/AJCR.935263

Am J Case Rep 2022; 23:e935263

19 Jul 2022 : Case report  Saudi Arabia

Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19

DOI :10.12659/AJCR.936128

Am J Case Rep 2022; 23:e936128

05 Mar 2022 : Case report  Brazil

Acute Limb Ischemia After Self-Injection of Crushed Morphine Tablets into the Radial Artery: Role of Infrar...

DOI :10.12659/AJCR.935336

Am J Case Rep 2022; 23:e935336

02 Apr 2022 : Case report  Saudi Arabia

Infective Endocarditis Caused by Pseudomonas luteola in a Pediatric Patient. A Case Report and Review of Li...

DOI :10.12659/AJCR.935743

Am J Case Rep 2022; 23:e935743

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923