Simultaneous adrenal pheochromocytoma and carotid body tumor in a child

Posted Sun, 09/06/2009 - 10:55 by mailpkd
Images

Fig 1. Hypervascular lesion in carotid "crotch"

Fig 2. Right adrenal Pheochromocytoma


Clinical History:

Eight year old male child presented to ENT department of our institution with a neck mass on the right side. Contrast CT of the neck was performed for evaluation of the same. During the stay in the hospital the child was found to be hypertensive, which was evaluated by imaging and laboratory investigations. Urinary levels of catecholamine bi products (VMA) were elevated.


Findings:

CT of the neck revealed a mass with homogeneous enhancement at the level of right carotid artery bifurcation. The mass splayed the carotid bifurcation and displaced the internal jugular vein (Fig 1). These findings are classic of carotid body tumor. Abdominal sonography revealed a right suprarenal mass for which CT of the abdomen was performed. CT abdomen revealed an intensely enhancing mass of the right adrenal gland with few central non enhancing areas suggestive of necrosis. These features with elevated Epinephrines and VMA are suggestive of pheochromocytoma (Fig 2).


Diagnosis:

Pheochoromocytoma – Paraganglioma syndrome


Discussion:

Simultaneous occurrence of carotid body tumor and pheochromocytoma is rare. Ten percent of pheochromocytoma patients have multifocal paragangliomas and 10% are familial (“10% rule” in pheochromocytoma). 10% of pheochromocytomas are malignant.
Pheochromocytomas and paragangliomas occur as sporadic tumors or they can be associated with several hereditary syndromes such as:
1. Multiple endocrine neoplasia type 2 (MEN 2) - characterized by medullary thyroid carcinomas, pheochromocytomas and hyperparathyroidism, is caused by germline mutations in the RET proto-oncogene.
2. Von-Hippel-Lindau disease (VHL), associated with germline mutations in the VHL tumor-suppressor gene, is an autosomal-dominant disorder characterized by pheochromocytomas, occasionally parangangliomas, renal cell carcinomas and retinal and central nervous system hemangiomas or hemangioblastomas.
3. An unusual genetic cause of pheochromocytomas is neurofibromatosis type 1.
Apart from these hereditary syndromes germline heterozygous gene mutations in SDHB, SDHC and SDHD (3 out of 4 genes encoding subunits of the succinate dehydrogenase enzyme complex) can cause simultaneous occurrence of pheochromocytoma-paraganglioma syndrome. These cases also have been found in families. In our case Patient and the family members did not have any features to suggest MEN, VHL or NF1.
Genetic testing is recommended for patients with an apparently sporadic pheochromocytoma under the age of 20 yr with family history or features suggestive of hereditary pheochromocytoma or for patients with sympathetic paragangliomas. For individuals who do not meet these criteria, genetic testing is optional.
Discovery of Pheochromocytoma or a paraganglioma in a patient should lead to careful search to rule out multifocal lesions and/or hereditary syndromes.

The diagnosis of pheochromocytoma and paraganglioma is made by biochemical testing and imaging is done to localize the tumor for surgical planning.


References / Suggested Reading:

1. Carotid Body Tumors and Adrenal Pheochromocytomas in Siblings of a Turkish Family Cihangir Erem, Arif Hac hasanoglu et al. Med Princ Pract 2006;15:396-400
2. REVIEW: Should Patients with Apparently Sporadic Pheochromocytomas or Paragangliomas be Screened for Hereditary Syndromes? Camilo Jime´nez, Gilbert Cote et al.J ClinEndocrinol Metab 91: 2851–2858, 2006


Author

Paresh Desai,MD

Staff Radiologist

Goa Medical College - Goa University

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Tue, 09/08/2009 - 22:58
#1
Vikram Dogra
Vikram Dogra's picture
User offline. Last seen 19 hours 57 min ago. Offline
Joined: 05/23/2007
Excellent Case

This is a very unusual case and thank you for sharing it with every one.
10% of pheochromocytomas are malignant but this diagnosis cannot be made by imaging studies or histopathology. Because of this reason all the patients with pheochromocytomas after surgical removal are followed by imaging to detect the presence of metastatic disease. It is the presence of metastatic disease that confirms its malignant nature.

Dr. Vikram Singh Dogra

Professor of Radiology, Urology & BME
Associate Chair for Education and Research.
Department of Imaging Sciences
University of Rochester School of Medicine

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