Endocrine Abstracts

Von Hippel–Lindau (VHL) disease, attributable to germline mutations in the VHL gene on the short arm of chromosome 3 (3p25-26) is an inherited condition which can give rise to paragangliomas. We present a case of 47 year old gentleman with bilateral pheochromocytomas in the past resulting in both adrenalectomies as a child in the 1980. His routine follow up subsequently picked up elevated urine Normetanephrines at 14.3 µmol/24 h 25 years postoperatively. His CT abdomen and pelvis revealed a 4.2 cm×2.8 cm mass between the IVC and right crus which was resected. His histology is reported as well-defined nests (Zellballen) bound by delicate fibrovascular stroma consistent with extra-adrenal paraganglioma. His urine metanephrines normalised post resection. He also had cryoablation to a left renal tumour in July 2008. In addition to a neuroendocrine tumour removed from the head of his pancreas in February 2009 through a Whipple’s procedure which has left him diabetic. His most recent 24-h urinary metanephrines and fasting gut profile is normal. He is on hydrocortisone and fludrocortisone replacement which maintains his blood pressure around 120/80. He continues to be under annual follow up in our Joint Von Hippel–Lindau Clinic, endocrine clinic and genetics clinic aimed at early detection of any complications of his von Hippel–Lindau disease.

Conclusion: Paragangliomas are neuroendocrine tumours subdivided into parasympathetic and sympathetic paragangliomas with the formal localized to the head and neck and the latter found in the thoracic, abdominal, or pelvic region. Clinicians treating VHL patients or having them under surveillance should be conscious about the existence of paragangliomas post adrenalectomy and be on the lookout for it post adrenalectomy.

References

1 José Gaal, Francien H. van Nederveen, Zoran Erlic, Esther Korpershoek, Rogier Oldenburg, Carsten C. Boedeker et al., Parasympathetic paraganglioma Are part of the Von Hippel Lindau Syndrome. The Journal of Clinical Endocrinology & Metabolism, Volume 94, Issue 11, 1 November 2009, Pages 4367–4371.