VHL syndrome (von Hipple-Lindau syndrome)

History: male, 46 years old

7 years ago, the patient had no obvious cause of inflexibility of the right calf, numbness, swelling and pain, accompanied by dysuria, constipation, and found double kidney tumors and pancreatic cysts in the hospital, and underwent total resection of the left kidney and partial resection of the right kidney, and the pathological return was transparent cell carcinoma

Diagnosis:

VHL syndrome (vonHipple-Lindau syndrome)

Discuss:

VHL syndrome is a rare autosomal dominant hereditary disorder, the basic lesion is hemangioblastoma, clinical features occur in the nervous system or retina angioblastoma, renal clear cell carcinoma, pheochromocytoma, and liver, kidney, pancreas, epididymis and other multiple cysts or tumors

The basic components of VHL syndrome are divided into two parts:

(1) Angioblastoma of the retina, brainstem, cerebellum or spinal cord;

(2) Lesions of abdominal organs (pheochromocytoma, renal cyst or renal cell carcinoma, pancreatic cyst, etc.

The clinical manifestations of different lesions are different

Imaging manifestations of the main lesions of VHL syndrome (central nervous system angioblastoma) include:

(1) It is more likely to occur in the cerebellum, medulla oblongata and cervical thoracic spinal cord;

(2) Cerebellar angioblastoma includes 3 types, namely large cystic small nodule type, simple cyst type and parenchymal mass type, of which large cystic small nodule type is the most common and most typical, the general cyst is large and the cyst fluid is uniform, the density/signal can be slightly higher than the cerebrospinal fluid, the wall nodule is small, can be located on one side of the cyst wall or outside the capsule, the enhanced scanning wall nodule is significantly strengthened, the cyst fluid and the capsule wall are not strengthened, and sometimes there is a flowing vascular shadow within the wall nodule or around the tumor, and the peritumoral edema is lighter;

(3) Most of the spinal cord lesions are cystic, the lesion range can be very long, the tumor wall nodule in the cystic transformation area is mostly located on the dorsal side of the spinal cord, the enhanced scanning wall nodule is uniformly and significantly strengthened, the capsule wall and the cyst fluid are not strengthened, a few cases can see the blood supply artery or drainage vein, the lesion often causes a wide range of spinal cord cavities, the tumor parenchyma is very small and the spinal cord thickening sac changes the range is very long, and the phenomenon of significant disproportionality between the two is also one of

The median age of survival was 49 years, and the main cause of death was rupture and bleeding from central nervous system angioblastoma, renal cell carcinoma, and malignant hypertension