Teaching Case

A 29-year-old female without a significant past medical history presented to a tertiary health care centre complaining of a 15-day history of vomiting and abdominal pain. Physical examination was unremarkable. Routine lab investigations were within normal limits, including blood counts, renal and liver function tests. CEA and CA 125 levels were also normal.

Ultrasound of abdomen and pelvis demonstrated:

1. Bilateral simple renal cysts.
2. A cystic lesion in the body of the pancreas with internal septations
3. A complex right adnexal cyst.

Subsequently, a contrast-enhanced CT (CECT) abdomen demonstrated -  

1. Multiple heterogeneously enhancing soft tissue attenuating bilateral renal exophytic masses, consistent with renal cell carcinoma, and a few simple renal cysts
2. Enhancing cystic lesions in the pancreas with internal septations, consistent with serous cystadenomas and a few simple pancreatic cysts
3. Hyper-enhancing left adrenal mass, consistent with pheochromocytoma.
4. A multiloculated cystic lesion in the right adnexa with enhancing wall and internal septations, most consistent with cystadenoma
5. Simple hepatic cyst

A contrast-enhanced MRI of the brain and spine was done to evaluate the neuroaxis, demonstrating a solid cystic lesion in the superior aspect of the right cerebellar hemisphere with an enhancing solid component. Similar smaller enhancing lesions were noted in the bilateral cerebellar hemispheres and in the cervical spinal cord at the level of the C4 vertebra. These lesions likely represent hemangioblastomas.

Von Hippel-Lindau disease (VHL) is a rare, autosomal dominant, neoplastic condition; comprising both benign and malignant tumours inherited in a germline or sporadic (20%) fashion. [1] VHL includes hemangioblastomas (HB) in the central nervous system (CNS) and retina; simple renal cysts and renal cell carcinoma (RCC) in the kidneys; pheochromocytomas in the adrenals; cystadenomas and pancreatic neuroendocrine tumors (PNET) in the pancreas; and endolymphatic sac tumors (ELST). [1,2] Rarely, as seen in our case, the above tumors can be associated with simple cysts in the liver and ovarian cystadenoma. [2]

Clinical criteria for diagnosis of VHL require a positive family history and the presence of one VHL-associated neoplasm; In sporadic cases, the presence of two hemangioblastomas or one hemangioblastoma and a second VHL-associated neoplasm are required. Diagnosis of sporadic VHL is confirmed using genetic mapping, which was not feasible due to the patient's financial constraints and premature discharge against medical advice. [1,3]

The median age of presentation in VHL is 33 years, with most patients historically surviving only up to the 5^th decade [1]. Due to recent advances in radiological surveillance, the mortality of VHL due to RCC and HB [the most usual cause of VHL-associated death] has significantly decreased. [4]

Contrast-enhanced MRI [T1 weighted] can be used to evaluate HB of the retina, brain and spinal cord in which lesions as small as 2mm appear as enhancing lesions. [1] Contrast-enhanced CTs are used to identify ESLTs, appearing as isointense lesions with occasional foci of hypo and hyper attenuation. ESLTs may present as an expansile destructive lesion of the temporal bone[1,5]. Ultrasound (USG), contrast-enhanced CT, and MRI can be used to diagnose renal, pancreatic, adrenal, and adnexal lesions. [1,3]

Patients diagnosed with VHL (clinical/genetic diagnosis]) or those who are at 50 percent inheritance risk [without genetic confirmation] can be placed under a structured surveillance protocol, like the one compiled by Maher et al.[2,3]

1]Retinal angiomas – Ophthalmic examinations yearly starting from infancy

2]CNS hemangioblastomas – MRI examination every 12-36 months, starting from adolescence

3] Abdominal imaging for Renal and pancreatic lesions – USG/ MRI every 12 months from 16 years of age.

4] Pheochromocytomas – Annual BP monitoring and 24-hour urine studies for catecholamines and adrenal imaging [in high-risk patients]

In our case, surveillance was advised since the most prominent renal cell carcinoma and pancreatic serous cystadenoma were less than 3 cm [6,7]. As there were no neurological deficits and the lesion size was only 2cm, annual monitoring of the cerebellar and spinal cord HBs was opted for [1,8]. Partial adrenalectomy was planned for the pheochromocytoma.

Written informed patient consent for publication has been obtained.