Several studies have shown that patients with
succinate dehydrogenase subunit B (SDHB) mutations have a very high risk for developing malignant
paragangliomas. However, there is no consensus of what age screening for
paragangliomas should start. We report a case of an 8-year-old white girl with a 3-year history of
catecholamine excess-related complaints who was diagnosed with a malignant SDHB-associated mediastinal
paraganglioma. The patient presented with intermittent sweating,
headache,
nausea,
vomiting,
fatigue and
weight loss that had been present since she was 5 years of age. A large posterior mediastinal mass measuring 6.4 cm x 3.1 cm x 4.6 cm was discovered on computed tomography (CT) and magnetic resonance imaging (MRI). Laboratory data included an elevated level of urine
normetanephrine of 45,400 microg/g
creatinine (upper reference limit 718 microg/g) and elevated level of plasma
normetanephrine of 62.4 nmol/l (upper reference limit <0.90 nmol/l). She was diagnosed with a thoracic
paraganglioma and subsequently underwent surgical removal of the
tumor and two lymph nodes. Histopathologic examination confirmed metastatic
paraganglioma. Postoperatively, her blood pressure normalized and plasma
normetanephrine levels remained normal. Our patient first presented with
paraganglioma-associated signs and symptoms at the young age of 5 years. This case clearly illustrates the need for increased vigilance and screening for
paragangliomas in families with SDHB at a younger age than previously thought.