Keywords:
Phaeochromocytoma, von Hippel Lindau disease, Recurrence.
Introduction
Von Hippel-Lindau (VHL) syndrome is a VHL-gene-mutation-related disease
with autosomal dominant inheritance. The incidence rate reported abroad
is about 1:36000 in the general population.1 It
frequently presents as benign and malignant multiorgan tumors, involving
brain, spinal cord, retina, pancreas, kidneys, adrenal glands,
epididymis and other structures. Among VHL patients, phaeochromocytomas
are diagnosed at the average age of 30 years old, with a metastatic risk
of approximately 5%.2 The primary lesions usually
locate in bilateral adrenal glands, and extra-adrenal paraganglioma
could occur as the disease progresses. Due to rareness of
phaeochromocytoma and paraganglioma (PPGL), clinicians often lack
experience to deal with relative cases. Here, we report a case of
VHL-related recurrent phaeochromocytoma with multiorgan involvement and
review the literature.