Loeys-Dietz Syndrome and Overlap Ehlers-Danlos/Osteogenesis Imperfecta Mosaicism: A Rare Case of Stroke in Young Adult

Several inherited connective tissue disorders have been only lately considered in stroke pathogenesis, presenting as part of the phenotype in young adults. Therefore, we present the case of a 24-year-old woman, who suffered from a right occipital ischemic stroke, manifesting with sudden onset of visual disturbance and left body paresthesia. Physical examination revealed blue sclerae, poor wound healing, elastic neck skin, long and thin fingers. Bone density test showed osteoporosis/severe osteopenia. The genetic assessment for juvenile stroke detected C.128delA variant in heterozygosis and apparent mosaicism on the COL1A gene, involved in Overlap Ehlers-Danlos syndrome (EDS)/ Osteogenesis imperfecta (OI), and c.1195A> G variant in heterozygosis on TGFB2 gene, involved in Loeys-Dietz syndrome (LDS). Familial aggregation study revealed the very same variant on TGFB2 gene in the patient’s daughter. Considering the coexistence of both diseases, we believe that stroke may correlate to LDS, while phenotypic picture is related to the overlap EDS/OI mosaicism.