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A 40-YEAR FOLLOW-UP OF A PATIENT WITH MULTIPLE PARAGANGLIOMAS AND A SDHD MUTATION.
Acta Endocrinol (Buchar)
January 2019
Medical University of Sofia Faculty of Medicine - Department of Endocrinology, USHATE "Acad. Ivan Penchev", Sofia, Bulgaria.
Context: Germline mutations in Succinate Dehydrogenase Complex Subunit D gene (SDHD) predispose to predominantly benign head and neck and/or thoracic-abdominal pelvic paragangliomas (PGLs).
Objective: We present the case of a patient carrying a germline SDHD mutation responsible for multiple PGLs, who was followed for 40 years. He was initially diagnosed with a left cervical PGL at the age of 23 years, treated by surgery.