In 2007, Mollet et al.[15] reported the first molecularly proven cases: two siblings with CoQ10 deficiency manifesting with early-onset deafness, encephaloneuropathy, obesity, livedo reticularis, and valvulopathy, carrying a homozygous missense PDSS1 pathogenic variant (c.924T>G, p.Asp308Glu). The gene discussed is PDSS1; the disease is coenzyme Q10 deficiency.