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Case Reports
. 2007 Oct 8:5:112.
doi: 10.1186/1477-7819-5-112.

A patient with bilateral pheochromocytoma as part of a Von Hippel-Lindau (VHL) syndrome type 2C

Jennifer M J Schreinemakers  1 , Bernard A Zonnenberg, Jo W M Höppener, Frederik J Hes, Inne H M Borel Rinkes Rinkes, Cornelis J M Lips
Affiliations
Case Reports

A patient with bilateral pheochromocytoma as part of a Von Hippel-Lindau (VHL) syndrome type 2C

Jennifer M J Schreinemakers et al. World J Surg Oncol. .

Abstract

Background: Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited disease. It is relatively recent that type 2C was identified as a separate group solely presenting with pheochromocytomas. As an illustration, an interesting case is presented of a pregnant woman with refractory hypertension. It proved to be the first manifestation of bilateral pheochromocytomas. The family history may indicate the diagnosis, but only identification of a germ line mutation in the DNA of a patient will confirm carriership.

Case presentation: A 27 year pregnant patient with intra uterine growth retardation presented with hypertension and pre-eclampsia. Magnetic resonance imaging revealed bilateral adrenal pheochromocytoma. She underwent laparoscopic adrenelectomy and a missense mutation (Gly93Ser) in exon 1 of the VHL gene on chromosome 3 (p25 - p26) was shown in the patient, her father and her daughter confirming the diagnosis of VHL.

Conclusion: In almost all VHL families molecular genetic analysis of DNA will demonstrate an inherited mutation. Because of the involvement in several organs, periodic clinical evaluation should take place in a well coordinated, multidisciplinary setting. VHL disease can be classified into several subtypes. VHL type 2C patients present with pheochromocytomas without evidence of haemangioblastomas in the central nervous system and/or retina and a low risk of renal cell carcinoma. Therefore, in such families, periodic clinical screening can be focussed on pheochromocytomas.

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Figures

Figure 1
Figure 1
pedigree of the family.
See this image and copyright information in PMC

References

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