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

01 December 2021 : Case report  USA

A 48-Year-Old Immunocompetent Female Resident of Southern Florida with Confirmed Reinfection with P.1 (Gamm...

Am J Case Rep In Press; DOI: 10.12659/AJCR.935329  

26 November 2021 : Case report  Poland

Arteritic Anterior Ischemic Optic Neuropathy in the Course of Giant Cell Arteritis After COVID-19

Am J Case Rep In Press; DOI: 10.12659/AJCR.933471  

01 December 2021 : Case report  USA

Progressive Pulmonary Fibrosis After Non-Critical COVID-19: A Case Report

Am J Case Rep 2021; 22:e933458

25 November 2021 : Case report  USA

A Case of COVID-19-Associated Free-Floating Aortic Thrombus Successfully Treated with Thrombectomy

Am J Case Rep 2021; 22:e933225

In Press

03 Dec 2021 : Case report  Saudi Arabia

A 4-Month-Old Girl with Persistent Respiratory Distress and Multiple Admissions to the Pediatric Intensive ...

Am J Case Rep In Press; DOI: 10.12659/AJCR.935247  

02 Dec 2021 : Case report  Romania

A Case of Giant Mesenchymal Uterine Tumor: Lipoleiomyoma

Am J Case Rep In Press; DOI: 10.12659/AJCR.934913  

01 Dec 2021 : Case report  USA

A 48-Year-Old Immunocompetent Female Resident of Southern Florida with Confirmed Reinfection with P.1 (Gamm...

Am J Case Rep In Press; DOI: 10.12659/AJCR.935329  

01 Dec 2021 : Case report  Thailand

A 34-Year-Old Thai Man Presenting with Pulmonary Stenosis and Heart Failure 24 Years After Surgical Correct...

Am J Case Rep In Press; DOI: 10.12659/AJCR.933078  

Most Viewed Current Articles

15 Aug 2020 : Case report  USA

A 57-Year-Old African American Man with Severe COVID-19 Pneumonia Who Responded to Supportive Photobiomodul...

DOI :10.12659/AJCR.926779

Am J Case Rep 2020; 21:e926779

09 May 2019 : Case report  USA

A Rare Case of Stage IV Basaloid Squamous Cell Cancer with Intrapulmonary and Brain Metastases

DOI :10.12659/AJCR.915073

Am J Case Rep 2019; 20:664-667

13 Mar 2019 : Case report  USA

Dry Beriberi Due to Thiamine Deficiency Associated with Peripheral Neuropathy and Wernicke’s Encephalopathy...

DOI :10.12659/AJCR.914051

Am J Case Rep 2019; 20:330-334

09 Jan 2019 : Case report  Saudi Arabia

3-M Syndrome: A Local Case Report

DOI :10.12659/AJCR.912736

Am J Case Rep 2019; 20:36-38

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