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


CONCLUSIONS
The final diagnosis was familial pheochromocytoma/paraganglioma type 1 (OMIM 168000). Antihypertensive treatment was succesfull and improved the patient's quality of life.
Novosel
Astrid
A
Department of Paediatrics, Dr. von Haunersches Kinderspital, Ludwig-Maximilians-University, Lindwurmstrasse 4, 80337 Munich, Germany. astrid.novosel@med.uni-muenchen.de
Heger
Alfred
A
Lohse
Peter
P
Schmidt
Heinrich
H
D000008:Abdominal Neoplasms / Q000235:genetics* / Q000601:surgery; D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000235:genetics* / Q000601:surgery; D000315:Adrenalectomy; D047228:Angiotensin II Type 1 Receptor Blockers / Q000627:therapeutic use; D005091:Exons; D017353:Gene Deletion; D018095:Germ-Line Mutation; D006147:Guanine / Q000378:metabolism; D006801:Humans; D006973:Hypertension / Q000188:drug therapy / Q000209:etiology; D019808:Losartan / Q000627:therapeutic use; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010235:Paraganglioma / Q000235:genetics* / Q000601:surgery; D010673:Pheochromocytoma / Q000235:genetics* / Q000601:surgery; D017422:Sequence Analysis, DNA; D013385:Succinate Dehydrogenase / Q000235:genetics
D047228:Angiotensin II Type 1 Receptor Blockers; D008565:Membrane Proteins; C491545:SDHD protein, human; D006147:Guanine; D013385:Succinate Dehydrogenase; D019808:Losartan