Paraganglioma Syndrome Type 4 (Pgl 4):Clinical and Genetic Findings

G SANSÓ; A VIEITES; G LEVIN; M BARONTINI

Cartagena de Indias

Congreso; XXII Annual Meeting of the Latin-American Society of Pediatric Endocrinology; 2011

Latin-American Society of Pediatric Endocrinology

Introduction and Objectives: Pgl 4 is the second frequent genetic pheocromocytoma/paraganglioma syndrome in children and adolescents. It is an autosomal dominant disease with mutations in SDHB gene. These mutations have been associated with extraadrenal pheocromocytomas and high malignant potential. Head and neck paraganglioma have been observed less frequently. The aim of this study is to describe the clinical symptoms and genetic findings in 9 patients, 6 aged 12?17 years and 3 adults with Pgl 4. Methods: All of them presented symptoms caused by hypersecretion of catecholamines. Biochemical profile showed NA and VMA increase. Results: In the younger group tumors were localized in: abdomen(2), thorax(1), urinary bladder(1), unilateral adrenal(3). The adults presented paraganglioma in:urinary bladder(1), organ of Zuckerkandl(1) and neck(1). The SDHB direct sequencing showed missence mutations R217G(2), S198R(1), L65R(1) and a Frameshift g300-304 delCCTCA(5). The frequency of the delecion g300-304delCCTCA was remarkably higher in the population studied than reported so far. The study was then performed in 19 relatives, and 7 carriers were found. Conclusion: We conclude that mutations in the SDHB gene should be searched for in patients with paraganglioma or malignant pheocromocytoma as a first step. Thus, the importance of the early diagnosis in these patients becomes critical to allow early treatment that will impove the outcome.