Von Hippel-Lindau Syndrome: Demonstration of Entire Disease Spectrum with 68Ga-DOTANOC PET-CT
A 52-year-old lady remove was presented with an abdominal lump of 6-month in duration. She gave history of left eye surgery five years back, following an episode of sudden onset loss of vision. Since then, she had loss of vision in the left eye. There were no other CNS symptoms. She also gave history of similar eye surgery in her younger son (age-28 years), following a similar episode of unilateral loss of vision. On examination, she was not hypertensive. She had no perception of light in the left eye, while the right eye visual acuity was normal. Because of the presence of secondary cataract in the left eye, her posterior chamber could not be evaluated. There were no cerebellar signs. Abdominal examination revealed a large lump in the right upper and lower quadrant. Complete hemogram, renal function tests and liver function tests were normal.\nContrast enhanced CT of the abdomen revealed a hypervascular mass (7.8 × 5.8 × 5.1 cm), arising from the interpolar region of the left kidney with multiple feeding vessels arising from the left renal artery and supplying the mass (). The findings were suspicious for RCC. Multiple cortical cysts were also seen in both kidneys. Another large (9.6 × 7.4 × 5.4 cm) hypervascular mass lesion was seen in the body and tail of the pancreas, which was suspicious for metastasis from RCC (). Bilateral adrenals were normal. Because of the hypervascular nature of pancreatic mass biopsy was not attempted.\nSubsequently, SSTR PET-CT was done with 68Ga-DOTANOC to characterize the pancreatic mass. PET-CT revealed intense 68Ga-DOTANOC uptake (maximum standardised uptake value [SUVmax] = 18.6) in the pancreatic mass, characterizing it as a NET (). It also demonstrated a solitary liver metastasis (segment III) with intense 68Ga-DOTANOC uptake (SUVmax = 13.2), confirming it to arising from pancreatic NET (). The left renal mass showed only a mild 68Ga-DOTANOC uptake (SUVmax = 3.1) (). Interestingly, a hypodense lesion was seen in the left cerebellum, showing increased 68Ga-DOTANOC uptake (SUVmax = 9.9) (). Another focus of 68Ga-DOTANOC uptake was seen in a lateral part of the left globe (SUVmax = 8.3) corresponding to a heterogeneous lesion seen on CT ().\nGadolinium enhanced magnetic resonance imaging (MRI) of the brain was done to characterise the CNS lesions seen on 68Ga-DOTANOC PET-CT. It showed a nodular lesion (2 × 2 cm) in the lateral half of the left cerebellar hemisphere with intense post contrast enhancement (). An eccentric nodule was also noted in the lateral part of the left globe with intense post contrast enhancement (). MRI findings were consistent with hemangioblastoma of the left retina and cerebellum. Imaging findings confirmed the diagnosis of VHL syndrome. Therefore, serum and urinary catecholamines levels were done for screening of pheochromocytoma and paraganglioma, and were found to be normal. Fine needle aspiration cytology from the liver lesion confirmed the diagnosis of metastatic NET. The patient is now being worked up for palliative radionuclide therapy with 177Lu-DOTATATE.