Pheochromocytoma and paraganglioma (PPGLs) are rare autosomal dominant disorders derived from the neural crest chromaffin tissuesof the autonomic nervous system. The succinate dehydrogenase complex subunit D (SDHD) gene has been implicated as one of the pathogenic genes. Although more than 100 SDHD mutations have been reported, the phenotype-genotype association remains unclear. Here we reported a case of a patient who presented with multifocal PPGLs and with a rare SDHD mutation. It is the first report linking this variant to multifocal PPGLs. In addition, we suggest patients with truncated SDHD mutations should undergo whole-body imaging examinations because of multifocality.
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