Background: Paragangliomas are exceptionally rare neuroendocrine tumours for children and adolescents, located in an extraadrenal position and usually producing catecholamine.
Case presentation: A 13.5-year-old girl with a known history of multiple exostosis disease was presented for investigation of two large nodal oval para-aortic lesions, which were incidentally found during abdominal ultrasonography. Medical history of the girl included non-autoimmune hypothyroidism since 12 year-old, under thyroxin medication and dyslipidemia during the last 4 months. Family history revealed mother, maternal grandfather and brother with multiple exostosis disease, dyslipidemia in father and hypertension, dyslipidemia and diabetes mellitus type 2 in maternal grandmother. Physical examination was normal, with symmetrical anthropometrics in the lower percentiles (10th), pubertal Tanner stage IV and normal vital signs, revealing multiple exostotic lesions in upper and lower extremities and thorax, along with a café-au-lait spot in left iliac fossa. Biochemical, haematological and hormonal diagnostic laboratory evaluation was normal. However, 24-hour urine vanillylmandelic acid levels were found marginally elevated in one time-point evaluation but normal in re-screening. Abdomen magnetic resonance imaging revealed two paraaortic lesions (level of renal arteries) and biopsy under computed tomography control was performed. Pathology established the diagnosis of benign paraaortical paraganglioma. Functional imaging with 123I-MIBG single-positron emission computed tomography confirmed the presence of two metabolically active paravertebral neoplasms, consistent with paragangliomas without secondary lesions found. Additional In-111-Octreotide-Tc-99m-Tektrotyd scintigraphy did not reveale other MIBG-negative lesions. Pending patients genetic tests are going to clarify the endogenous cause and classify the paraganglioma.
Conclusion: Paraganglioma although rare in childhood, is important to be differentially diagnosed from more common childhood neoplasms such as neuroblastoma. Genetic investigation can offer on the final management of each individual case. After identification, surgical consultation is essential.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology