Connective tissue involvement in an m.10191 T > C carrier with Leigh-like syndrome

Abstract

Abstract Background Connective tissue involvement in a mitochondrial disorder has been only rarely reported. Case presentation A 32-year-old female with Leigh-like syndrome extending into adulthood due to the mtDNA variant m.10191 T > C developed various connective tissue abnormalities, which manifested as hyperlaxity of joints, decreased clivo-axial angle, subluxations of various joints, scoliosis, hyperextensibility of skin (stretchy skin), easy tearing, papyraceous scarring, frequent petechiae, very easy bruising, impaired wound healing, blood pooling in feet, and tiny veins. She received symptomatic treatment and physiotherapy, which provided some sort of relief. Conclusions The phenotypic spectrum of the m.10191 T > C variant is broader than previously anticipated.