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Rare Tumors 2009; volume 1:e29 A legacy of tinnitus: multiple head and neck paragangliomas

By Tricia M. M. Tan, Emma C. I. Hatfield, Rajesh V. Thakker, Eamonn R. Maher, Karim Meeran, Niamh M. Martin and Jeremy J. Turner

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. Case Report A 35-year old lady presented with rightsided pulsatile tinnitus, conductive deafness, and a vascular lesion in the floor of the right external auditory meatus. Magnetic resonance imaging revealed a right-sided glomus jugulare tumor and bilateral glomus vagale tumors (Figure 1). Both her paternal grandfather and her father had undergone neck surgery for tumors. She was an only child and had a two-year-old son. She was normotensive, with no clinical features of von Hippel-Lindau (VHL) syndrome or neurofibromatosis type 1 (NF1). Serum calcium, urine catecholamine excretion, and serum calcitonin were within normal limits. Radiolabeled metaiodobenzylguanidine scanning and MRI imaging of her abdomen did not demonstrate any intraabdominal paragangliomas. She underwent partial excision of her right glomus jugulare tumor, with complete excision of both the glomus vagale tumors. Histology showed nonmalignant paragangliomas. Genomic DNA analysis revealed a germline heterozygous missense mutation (p.Pro81Leu) in exon 3 of the succinate dehydrogenase subunit D (SDHD) gene. Therefore she was diagnosed with familial paraganglioma syndrome type

Year: 2013
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