As shown in the Figure 2 the SDH enzyme plays a critical role in connecting the TCA cycle (tricarboxylic acid cycle) with oxidative phosphorylation, which are both vital pathways in energy conversion.8 Mutations in the SDHD gene result in PPGL1 syndrome, characterized by tumors mainly in the head and neck region, less frequently in the thoracoabdominal area, and the potential development of PCCs.8 Having the result of the WES test, comprehensive diagnostic imaging tests were performed to investigate other possible findings associated with the result of the genetic study. This evidence concerns the gene SDHD and Down syndrome.