ESPE Abstracts

Background: Beckwith-Wiedemann Syndrome (BWS) is a rare overgrowth disorder secondary to various mutations in growth-regulatory genes on chromosome 11p15.5. A well-established association exists between BWS and both benign and malignant tumours, most commonly Wilms’ tumour and hepatoblastoma. We present a less frequently described diagnosis of bilateral phaeochromocytoma in association with BWS.

Case report: We report the case of a 14-year-old girl with genetically confirmed BWS. Previous routine screening detected a bladder rhabdomyoma and pancreatoblastoma (aged 2- and 7-years respectively), both surgically resected. Aged 14 years she developed headaches, sweating, palpitations and hypertension (systolic BP>180). Both urine and plasma normetadrenaline were elevated (22.3 μmol/24 h (NR 0.6–3.5) and 9514 pmol/l (NR 120–1180), respectively). MRI demonstrated bilateral complex adrenal cysts ≤ 2 cm, however iodine-123-meta-iodobenzylguanidine (MIBG)-scan showed no abnormal sites of activity. Due to strong clinical suspicion of phaeochromocytoma a fat-suppressed fludeoxyglucose (FDG)-PET scan was undertaken, with abnormal uptake seen within both adrenal glands, suggesting bilateral phaeochromocytoma and a lesion in the left shoulder, felt most likely an incidental avascular necrosis, but no other suspicious areas were noted. Further pre-operative investigations (ECG and echo) detected a cardiac mass, felt unlikely to be contributing to her hypertension, and biopsy undertaken following adrenalectomy was consistent with hamartoma. After stabilisation with alpha-blockers and intravenous fluids, the patient underwent bilateral adrenalectomies, following extensive MDT involvement. Histological analysis confirmed phaeochromocytomas and no other genetic mutations more commonly associated with phaeochromocytoma (MEN, SDH-A/B/C/D, NF-1) were discovered. Despite successful surgery, post-operatively she remains hypertensive and repeat plasma normetanephrines are persistently elevated (4152 pmol/l). Results of a Gallium-68 DOTANOC PET-CT scan are awaited. Further investigations of the cardiac and shoulder lesions are also planned (although felt unlikely a source of continued catecholamine over-secretion).

Conclusion/learning point: BWS is well-recognised genetic condition commonly associated with certain embryological tumours. Phaeochromocytomas are rare adrenal tumours, less commonly described in BWS. This case demonstrates the importance of on-going vigilance for the development of any tumours in BWS and the importance of undertaking further imaging following negative MIBG scans if the clinical picture is highly suggestive of phaeochromocytoma.