DIAGNOSIS AND MANAGEMENT OF HEREDITARY PARAGANGLIOMA SYNDROME DUE TO THE F933>X67 SDHD MUTATION

Abstract: Background. The hereditary paraganglioma syn-dromes (PGLs) are autosomal dominant conditions with an increased risk for tumors of the sympathetic and parasympathetic neuroendocrine systems. The recognition of patients with heredi-tary PGL and identification of the responsible gene are important for the management of index patients and family members. Methods. We present the clinical, radiological, biochemical, and family history findings of a 15-year-old boy patient with a glomus vagale versus glomus jugulare tumor. Results. Evaluation of the family history and the patient’s his-tory led to the identification of a familial succinate dehydrogenase subunit D (SDHD) gene mutation (F933>X67), consistent with a di-agnosis of hereditary PGL1. Although this family had all head and neck tumors, this SDHD mutation has previously been described in a family with primarily functional pheochromocytomas. Conclusions. This case report highlights the variable expres-sivity of a single mutation in SDHD, (F933>X67). Careful and com-prehensive screening is warranted for individuals at risk. VC 200