Abstract
We describe the case of a patient who presented with a right-sided glomus jugulare tumor and bilateral glomus vagale tumors. These proved to be nonmalignant paragangliomas on histopathological analysis. Genetic analysis revealed a germline heterozygous missense mutation (Pro81Leu) in the succinate dehydrogenase subunit D (SDHD) gene. We discuss the clinical presentations of the familial paraganglioma syndrome type 1, which is caused by mutations in SDHD, and the implications for the clinical diagnosis and care of such patients.
| Original language | English |
|---|---|
| Pages (from-to) | 88-89 |
| Number of pages | 2 |
| Journal | Rare Tumors |
| Volume | 1 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 2009 |
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