Purpose or Case Report: 14-year-old female presents with two-day history of fever and cough. She also reports two months history of fatigue, shortness of breath, palpitations and night sweat. Physical exam was only remarkable for systolic ejection murmur and hypertension. Relevant diagnostic testing: Microcytic anemia. LDH, uric acid AFP and HCG were normal. Negative HIV, Quantiferon and fungal culture. Negative double stranded DNA. Normal chromogranin A. Elevated plasma and urine normetanephrine levels.
Chest radiograph shows a well-defined right hilar mass with hilum overlay sign excluding the possibility of a middle mediastinal mass. CT chest with contrast demonstrates a necrotic right mediastinal mass. Gallium-68 Dotatate PET/CT shows avid radiotracer uptake in the right mediastinal mass compatible with biopsy-proven paraganglioma with no additional radiotracer-avid lesions elsewhere in the body. Hereditary paraganglioma/ pheochromocytoma panel analysis of a blood sample revealed a heterozygous pathogenic frameshift pathogenic variant in SDHC gene.
Paragangliomas are extra-adrenal pheochromocytomas and can be isolated or associated with hereditary diseases such as von Hippel-Lindau and succinate dehydrogenase (SDH) mutations. These tumors account for 1% of pediatric secondary hypertension.
Functional imaging, including 123I-MIBG, 111In-octreotide SPECT, 68Ga Dotatate and 18F-FDG PET, can be used to confirm the diagnosis, evaluate metastatic spread and conduct disease surveillance.
Ga-68 [DOTA-0-Tyr-3] octreotate (DOTATATE), with high affinity for somatostatin receptors (SSTR2) which are expressed by neuroendocrine tumors, is able to localize the tumor by the presence of focal increased radiotracer uptake in areas that are not typical for normal distribution such as pituitary, thyroid, adrenals, liver, spleen, uncinate process of pancreas, kidneys, and bladder.
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