European Journal of Pediatrics

, Volume 163, Issue 12, pp 701–703

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

  • Astrid Novosel
  • Alfred Heger
  • Peter Lohse
  • Heinrich Schmidt
Original Paper

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 antagonist Paraganglioma Pheochromocytoma  SDHD gene 

Abbreviations

MEN

multiple endocrine neoplasia

NF1

neurofibromatosis type 1

SDH

succinate dehydrogenase subunit

vHL

von Hippel-Lindau syndrome

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Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Astrid Novosel
    • 1
  • Alfred Heger
    • 2
  • Peter Lohse
    • 3
  • Heinrich Schmidt
    • 1
  1. 1.Department of PaediatricsDr. von Haunersches Kinderspital, Ludwig-Maximilians-UniversityMunich Germany
  2. 2.Department of Paediatric SurgeryLudwig-Maximilians-UniversityMunich Germany
  3. 3.Department of Clinical Chemistry-GroßhadernLudwig-Maximilians-UniversityMunich Germany

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