Multiple pheochromocytomas and paragangliomas in a young patient carrying a SDHD gene mutation.

Abstract

UNLABELLED:

We report a 13-year-old boy with an atypical manifestation of a multilocular paraganglioma. Surgical treatment was not curative despite extirpation of a left-sided abdominal paraganglioma. After surgery, the boy experienced several hypertensive crises. Further investigations including dopamine-positron emission tomography demonstrated bilateral adrenal tumours, a further right-sided paravertebral tumour as well as bilateral cervical glomus tumours. Genetic testing revealed a germline mutation in the succinate dehydrogenase subunit D (SDHD) gene.

CONCLUSION:

The final diagnosis was familial pheochromocytoma/paraganglioma type 1 (OMIM 168000). Antihypertensive treatment was succesfull and improved the patient's quality of life.

• Authors: Astrid Novosel, Alfred Heger, Peter Lohse, Heinrich Schmidt
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 163 Issue 12 Pg. 701-3 (Dec 2004) ISSN: 0340-6199 [Print] Germany
• PMID: 15365827 (Publication Type: Case Reports, Journal Article)

Chemical References

• Angiotensin II Type 1 Receptor Blockers
• Membrane Proteins
• SDHD protein, human
• Guanine
• Succinate Dehydrogenase
• Losartan

Topics

• Abdominal Neoplasms (genetics, surgery)
• Adolescent
• Adrenal Gland Neoplasms (genetics, surgery)
• Adrenalectomy
• Angiotensin II Type 1 Receptor Blockers (therapeutic use)
• Exons
• Gene Deletion
• Germ-Line Mutation
• Guanine (metabolism)
• Humans
• Hypertension (drug therapy, etiology)
• Losartan (therapeutic use)
• Male
• Membrane Proteins (genetics)
• Paraganglioma (genetics, surgery)
• Pheochromocytoma (genetics, surgery)
• Sequence Analysis, DNA
• Succinate Dehydrogenase (genetics)