Tethered cord syndrome associated with male Turner's syndrome

Tethered cord syndrome associated with Turner's syndrome in an 8-year-old boy is reported. Complicated mesodermal anomalies were observed from birth: a ventricular septal defect, hydronephrosis, agenesis of the sacrum, hypospadias, and anal atresia. Male external genitalia and a 45XO/46XY mosaic chromosome pattern were recognized, and a diagnosis of male Turner's syndrome was made. In the course of development, aggravation of a neurogenic bladder and a gait disturbance appeared. Low spinal conus and thickened filum were observed on MRI, and an operation of untethering was performed. The possible genesis of the thickened filum in systemic mesodermal anomalies of Turner's syndrome is discussed.