Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2016) 41 EP277 | DOI: 10.1530/endoabs.41.EP277

1‘C.I. Parhon’ Institute of Endocrinology, Bucharest, Romania; 2‘Carol Davila’ University of Medicine and Pharmacy, Bucharest, Romania.


Introduction: Von Hippel-Lindau (VHL) disease is an inherited, autosomal dominant syndrome manifested by a variety of benign and malignant tumors, with an incidence of about 1 in 36 000 individuals and a mean age at presentation of 26 years.

We present a family (mother and daughter) case of possible type 2A VHL disease diagnosed with multiple VHL-associated tumors in the absence of an available genetic testing. They both presented in our clinic in 2013 with biochemical profiles suggestive of pheochromocytoma (PHC). No genetic counseling was giving to the mother.

Clinical cases: G.F, 54 y.o, F, first diagnosed with bilateral PHC at the age 13, with a second bilateral PHC followed by a right adrenal tumor recurrence – each time a partial adrenal resection. She presents retinal angiomas with blindness of the RE and multiple hemangioblastomas of the cerebellum and spinal cord requiring seven neurosurgical interventions for compressive tumors. On routine checking we diagnosed a fourth right adrenal recurrence of PHC in addition to pancreatic tumors. The patient chose to remain under chronic alpha and beta blockers treatment.

Her daughter, 15 y.o, prematurely born at 7 months, was diagnosed with retinal angiomas with blindness of the LE since 9 y.o., cataract and secondary glaucoma of the RE. She was admitted at the age of 12 with sweating, palpitations, headache and high BP- when a bilateral PHC was confirmed by CT scan- 2 right adrenal tumors and a left adrenal tumor- and increased plasma NMN (2842/2205 pg/ml). Surgical removal was performed (total left and subtotal right adrenalectomy). One year after she developed a right adrenal recurrence which was again removed. She is now under close surveillance at every 3 months.

Conclusions: The management of VHL disease needs a multidisciplinary strategy, the primary goal being an early diagnosis and avoiding potential tumor-related disability.

Article tools

My recent searches

No recent searches.

My recently viewed abstracts