Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation.

BACKGROUND: The hereditary paraganglioma syndromes (PGLs) are autosomal dominant conditions with an increased risk for tumors of the sympathetic and parasympathetic neuroendocrine systems. The recognition of patients with hereditary 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 history led to the identification of a familial succinate dehydrogenase subunit D (SDHD) gene mutation (F933>X67), consistent with a diagnosis 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 expressivity of a single mutation in SDHD, (F933>X67). Careful and comprehensive screening is warranted for individuals at risk.