European Journal of Pediatrics

, Volume 163, Issue 12, pp 701–703

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

Authors

    • Department of PaediatricsDr. von Haunersches Kinderspital, Ludwig-Maximilians-University
  • Alfred Heger
    • Department of Paediatric SurgeryLudwig-Maximilians-University
  • Peter Lohse
    • Department of Clinical Chemistry-GroßhadernLudwig-Maximilians-University
  • Heinrich Schmidt
    • Department of PaediatricsDr. von Haunersches Kinderspital, Ludwig-Maximilians-University
Original Paper

DOI: 10.1007/s00431-004-1538-2

Cite this article as:
Novosel, A., Heger, A., Lohse, P. et al. Eur J Pediatr (2004) 163: 701. doi:10.1007/s00431-004-1538-2

Abstract

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.

Keywords

Angiotensin II receptor antagonistParagangliomaPheochromocytoma SDHD gene

Abbreviations

MEN

multiple endocrine neoplasia

NF1

neurofibromatosis type 1

SDH

succinate dehydrogenase subunit

vHL

von Hippel-Lindau syndrome

Copyright information

© Springer-Verlag 2004