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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


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

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