Paraganglioma Syndrome type 4 (Pgl 4): clinical and genetic findings

DRA GABRIELA SANSO; DRA ANA VIEITES; DRA GLORIA LEVIN; DRA MARTA BARONTINI

Cartagena de Indias

Congreso; XXII REUNION DE LA SOCIEDAD LATINOAMERICANA DE ENDOCRINOLOGIA PEDIATRICA; 2011

SLEP

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 extra-adrenal 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. All of them presented symptoms caused by hypersecretion of catecholamines. Biochemical profile showed NA and VMA increase.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. 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.