Endocrine Abstracts (2017) 49 EP101 | DOI: 10.1530/endoabs.49.EP101

Pheochromositoma in childhood

Olcay Evliyaoglu, Oya Ercan, Aydilek Çakır, Duhan Hopurcuoğlu & Betül Çınar

Istanbul University Cerrahpaşa Medical School Pediatric Endocrinology Department, Istanbul, Turkey.

Introduction: Feochromositoma is a rare neuroendocrine tumor derived from chrommaffin cells of adrenal medulla. The most characteristic clinical symptoms are headache, perspiration, palpitation, and paroxysismal hypertension. Childhood feochromositoma is generally genetic while it is mostly sporadic in adults. Here we report three feochromositoma cases in whom two had von Hippel Lindau syndrome (VHLs).

Case 1: 10 years old girl with admitted with fever. Her physical examination revealed hyperthermia and hypertension. Urine VMA level was increased and ultrasound examination showed left adrenal mass, diagnosis of pheochromositoma was confirmed after resection. In the second year of her follow-up GA-68 Octreotide scintigraphy determined accumulations in right adrenal and pancreas, pathological diagnosis were feochromositoma and neuroendocrine carcinom respectively after resection. Two disoreders together suggested VHLs and heterozygous p.L129P mutation in VHL gene was detected.

Case 2: 11-years-old boy admitted with perspiration and palpitation in whom hypertension was determined. Urine VMA level was increased, and bilateral adrenal mass was determined in ultrasonography. Diagnosis of pheochromositoma was confirmed after resection. In his 5 years of follow-up he admitted with headache. Cranial MRI showed frontal, adrenal ultrasound showed right adrenal masses, after resection hemangioblastoma and pheochromositoma were diagnosed respectively. Associaton of two disorders suggested VHLs and heterozygous p.R161Q mutation in VHL gene was determined.

Case 3: 9-years-old boy admitted with perspiratation and palpitation in whom hypertension was determined. His family history was significant with pheochromositoma in his father and grandmother. His urine VMA levels were high and adrenal ultrasound revealed bilateral adrenal masses. Diagnosis of pheochromositoma was confirmed after resection of both masses. No mutation in VHL gene was detected.

Conclusion: Although rare pheochromositoma should be thought in children with hypertension. In children pheochromositoma is mostly genetic in which VHLs is most frequent. Genetic tests should be performed in all children after diagnosis.

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