Abstract: Objective To investigate the clinical manifestations, imaging features, muscle pathology and genetic analysis of a patient presenting Barth syndrome(BTHS)with TAZ gene mutation, so as to improve clinician’s understanding of the disease. Methods Clinical and laboratory data of a patient with BTHS were collected and analyzed, and relevant literature was reviewed. Results The patient was a 14-year-old boy presenting with growth retardation since childhood. He was admitted to our hospital due to weakness of limbs for more than two months. Physical examination showed bilateral weakness in trapezius, sternocleidomastoid muscles and limbs. Blood routine examination indicated a decrease in neutrophil count. Urine organic acid analysis revealed elevated 3-methylglutaconicaciduria. Muscle MRI showed abnormal signals on FS T₂WI(fat suppression T₂ weighted imaging)in both gluteus maximus muscles and muscles around the tibial epiphysis. Muscle pathology showed mild myogenic lesion. Genetic analysis confirmed that the patient and his mother carried mutation c.589G>A in the TAZ gene. Conclusion Barth syndrome is a clinically and genetically heterogeneous disorder with various onset forms. When patients present with inexplicable decreased neutrophils or myocardial involvement, BTHS should be considered. Early diagnosis, symptomatic treatment and supportive care can improve the quality of life for patients.

Key words: Barth syndrome, TAZ gene, Mutation, Cardiolipin