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 0.63.5) and 9514 pmol/l (NR 1201180), 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.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology