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

0 Comments

SARS-CoV-2/COVID-19

11 January 2022 : Case report  Oman

Myocarditis, Pulmonary Hemorrhage, and Extensive Myositis with Rhabdomyolysis 12 Days After First Dose of P...

Am J Case Rep In Press; DOI: 10.12659/AJCR.934399  

12 January 2022 : Case report  USA

Guillain-Barré Syndrome After Ad26.COV2.S Vaccination

Am J Case Rep In Press; DOI: 10.12659/AJCR.935275  

10 January 2022 : Case report  Philippines

Pulmonary Function and Chest Computed Tomography (CT) Scan Findings After Antifibrotic Treatment for COVID-...

Am J Case Rep In Press; DOI: 10.12659/AJCR.934830  

07 January 2022 : Case report  Saudi Arabia

Extensive Cerebral Venous Sinus Thrombosis (CVST) After the First Dose of Pfizer-BioNTech BNT162b2 mRNA COV...

Am J Case Rep In Press; DOI: 10.12659/AJCR.934744  

In Press

14 Jan 2022 : Case report  Palestinian Territory, Occupied

Successful Treatment for Isolated Bone Marrow Hodgkin Lymphoma in an Human Immunodeficiency Virus (HIV)-Neg...

Am J Case Rep In Press; DOI: 10.12659/AJCR.935045  

13 Jan 2022 : Case report  Japan

Relapsing Infectious Mononucleosis-Like Symptoms Associated with Liver Insufficiency in a Chronic Hepatitis...

Am J Case Rep In Press; DOI: 10.12659/AJCR.934003  

13 Jan 2022 : Case report  Oman

Myocarditis, Pulmonary Hemorrhage, and Extensive Myositis with Rhabdomyolysis 12 Days After First Dose of P...

Am J Case Rep In Press; DOI: 10.12659/AJCR.934399  

12 Jan 2022 : Case report  USA

Pasteurella Endocarditis in a Patient with Rheumatic Mitral Valve Disease

Am J Case Rep In Press; DOI: 10.12659/AJCR.935270  

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

06 Dec 2021 : Case report  Brazil

Lipedema Can Be Treated Non-Surgically: A Report of 5 Cases

DOI :10.12659/AJCR.934406

Am J Case Rep 2021; 22:e934406

24 Jul 2020 : Case report  Canada

Symptoms of Pleurisy as the Initial Presentation of COVID-19

DOI :10.12659/AJCR.925775

Am J Case Rep 2020; 21:e925775

09 Dec 2021 : Case report  USA

Left Ventricular Assist Device Pump Thrombosis in a Patient Treated with Apixaban

DOI :10.12659/AJCR.934787

Am J Case Rep 2021; 22:e934787

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