The patient was diagnosed with two different pathogenic variants, one heterozygous pathogenic variant in the SQSTM1 gene (c.1175C>T, p.Pro392Leu), associated with PDB [47,48,49,50], and a heterozygous germline mutation in the MSH2 gene (c.2634+1G>T), associated with LS [51,52]. Here, MSH2 is linked to Leigh syndrome.