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

02 December 2022 : Case report  Singapore

Encephalopathy as the Only Manifestation in Simultaneous Arterial Infarct and Cerebral Venous Sinus Thrombo...

Am J Case Rep In Press; DOI: 10.12659/AJCR.938571  

30 November 2022 : Case report  Gabon

Severe COVID-19 in 2 Kidney Transplant Patients in Gabon

Am J Case Rep In Press; DOI: 10.12659/AJCR.938003  

23 November 2022 : Case report  Grenada

Mepolizumab as a Potential Protective Factor of COVID-19 Mortality: A Case Report of Chronic Bronchitis and...

Am J Case Rep In Press; DOI: 10.12659/AJCR.938450  

In Press

07 Dec 2022 : Case report  China (mainland)

Ureterolithiasis in Human Immunodeficiency Virus (HIV) Patients Treated with Single-Use Ureteroscope: A Cas...

Am J Case Rep In Press; DOI: 10.12659/AJCR.938608  

05 Dec 2022 : Case report  Japan

A 75-Year-Old Woman with a 5-Year History of Controlled Type 2 Diabetes Mellitus Presenting with Polydipsia...

Am J Case Rep In Press; DOI: 10.12659/AJCR.938482  

05 Dec 2022 : Case report  Singapore

Encephalopathy as the Only Manifestation in Simultaneous Arterial Infarct and Cerebral Venous Sinus Thrombo...

Am J Case Rep In Press; DOI: 10.12659/AJCR.938571  

05 Dec 2022 : Case report  USA

Levofloxacin-Associated Bullous Pemphigoid in a Hemodialysis Patient After Kidney Transplant Failure

Am J Case Rep In Press; DOI: 10.12659/AJCR.938476  

Most Viewed Current Articles

13 Jul 2022 : Case report  USA

Whistling Scrotum: An Unusual Presentation of Pneumomediastinum in the Setting of an Open Scrotal Wound

DOI :10.12659/AJCR.936441

Am J Case Rep 2022; 23:e936441

23 Feb 2022 : Case report  USA

Penile Necrosis Associated with Local Intravenous Injection of Cocaine

DOI :10.12659/AJCR.935250

Am J Case Rep 2022; 23:e935250

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

17 Feb 2022 : Case report  Oman

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

DOI :10.12659/AJCR.934399

Am J Case Rep 2022; 23:e934399

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