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

Schreinemakers JM, Zonnenberg BA, Höppener JW, Hes FJ, Rinkes IH, Lips CJ - World J Surg Oncol (2007)

Bottom Line: It proved to be the first manifestation of bilateral pheochromocytomas.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.

View Article: PubMed Central - HTML - PubMed

Affiliation: Dept. of Surgery, University Medical Center Utrecht, Heidelberglaan 100, 3584CX Utrecht, The Netherlands. j.schreinemakers@gmail.com

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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pedigree of the family.
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Figure 1: pedigree of the family.

Mentions: The family tree of the family is depicted in Figure 1. The sister of our index patient did not inherit the family's mutation. The patient, her father, and daughter remain in a periodical screening program for VHL disease for early detection of other VHL associated tumours, but especially pheochromocytomas.


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

Schreinemakers JM, Zonnenberg BA, Höppener JW, Hes FJ, Rinkes IH, Lips CJ - World J Surg Oncol (2007)

pedigree of the family.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2169240&req=5

Figure 1: pedigree of the family.
Mentions: The family tree of the family is depicted in Figure 1. The sister of our index patient did not inherit the family's mutation. The patient, her father, and daughter remain in a periodical screening program for VHL disease for early detection of other VHL associated tumours, but especially pheochromocytomas.

Bottom Line: It proved to be the first manifestation of bilateral pheochromocytomas.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.

View Article: PubMed Central - HTML - PubMed

Affiliation: Dept. of Surgery, University Medical Center Utrecht, Heidelberglaan 100, 3584CX Utrecht, The Netherlands. j.schreinemakers@gmail.com

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.

Show MeSH
Related in: MedlinePlus