The patient did not have the clinical features of MPS VI, but considering the wide clinical spectrum, progressive nature of MPS VI, and the fact that a treatment for MPS VI is available to prevent disease progression, further in silico, biochemical, and enzymatic studies were performed to confirm the pathogenicity of ARSB:p.Arg159Cys variant. The gene discussed is ARSB; the disease is mucopolysaccharidosis type 6.