Pheochromocytoma in a Twelve-Year-Old Girl with SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

Overview

Journal Case Rep Genet

Publisher Wiley

Date 2014 Sep 13

PMID 25215250

Citations 2

Authors

Daryl Graham

Megan Gooch

Zhan Ye

Edward Richer

Aftab Chishti

Elizabeth Reilly

John DOrazio

Affiliations

Soon will be listed here.

Abstract

A twelve-year-old girl presented with a history of several weeks of worsening headaches accompanied by flushing and diaphoresis. The discovery of markedly elevated blood pressure and tachycardia led the child's pediatrician to consider the diagnosis of a catecholamine-secreting tumor, and an abdominal CT scan confirmed the presence of a pheochromocytoma. The patient was found to have a mutation in the succinyl dehydrogenase B (SDHB) gene, which is causative for SDHB-related hereditary paraganglioma-pheochromocytoma syndrome. Herein, we describe her presentation and medical management and discuss the clinical implications of SDHB deficiency.

Citing Articles

Mutation profiling in eight cases of vagal paragangliomas.

Kudryavtseva A, Kalinin D, Pavlov V, Savvateeva M, Fedorova M, Pudova E BMC Med Genomics. 2020; 13(Suppl 8):115.

PMID: 32948195 PMC: 7500026. DOI: 10.1186/s12920-020-00763-4.

Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers.

Wong M, Andrews K, Challis B, Park S, Acerini C, Maher E Clin Endocrinol (Oxf). 2018; 90(4):499-505.

PMID: 30589099 PMC: 6850004. DOI: 10.1111/cen.13926.

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