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Multiple pheochromocytomas and paragangliomas in a young patient carrying a SDHD gene mutation
Astrid Novosel1, Alfred Heger, Peter Lohse
1Department of Paediatrics, Dr. von Haunersches Kinderspital, Ludwig-Maximilians-University, Lindwurmstrasse 4, 80337 Munich, Germany. astrid.novosel@med.uni-muenchen.de
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.
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