Von Hippel–Lindau Syndrome: A Case Report

Abstract

BACKGROUND AND OBJECTIVE: Von Hippel–lindau syndrome is a rare syndrome. Von Hippel–Lindau is an autosomal dominant condition manifested by cerebellar and spinal hemangioblastomas, retinal angiomas, clear cell RCC, cysts of the pancreas, kidney, and epididymis, epididymal cystadenimas, pheochromocytoma, and endolymphatic sac tumors. The aim of this report was to introduce one case of Von Hippel–Lindau syndrome that patients multiple organs were involved. CASE: The patient was a 28 year old male that nine years ago because of right big cyst epididymis underwent surgery and about seven years ago he was hospitalized because of headache, ataxia and vertigo. Cerebellum hemangioblastomas was diagnosed by MRI, and three years ago abnormal gait caused by spinal hemangioblastoma in L2 and L3. The patient underwent surgery and then radiation treatment. Also, he suffered from blindness in the right eye caused by retinal angioma. Neurosurgeon referred the patient to urology center that a tumor in the incidentaloma of right kidney was discovered and underwent right radical nephrectomy. Pathologists report showed renal cell carcinoma. Now he referred due to infertility and undergoes diagnostic biopsy. Unfortunately he can not be a candidate for microinjection because histology revealed immature cells.CONCLUSION: With regard to the reported case of Von Hippel–Lindau syndrome that his multiple organs were involved coordination of different specialties in medical cares and the earlier identification of tumor and more careful surveillance after surgery due to multiple characteristics of tumor seem to be necessary.

Keywords

• von hippel-lindau syndrome
• autosomal dominant
• multisystems
• different clinical manifestations