Cerebellar Tubers in Tuberous Sclerosis Complex Patients: New Imaging Characteristics and the Relationship with Cerebral Tubers

Abstract

Abstract Objective  The imaging characteristics, evolution, and clinical features of cerebellar tubers in tuberous sclerosis complex (TSC) patients have not been well described. The purpose of this study is to investigate the imaging characteristics of cerebellar tubers, including their dynamic changes, and to evaluate the relationship with cerebral tubers in TSC patients. Materials and Methods  Two observers retrospectively reviewed 75 consecutive TSC patients to identify cerebellar tubers and to evaluate their imaging characteristics, including location, presence of retraction change, calcification, contrast enhancement, and the presence of an associated vascular anomaly, as well as dynamic changes in these characteristics. The number of cerebral tubers was compared between TSC patients with and without cerebellar tubers. Results  Twenty-five TSC patients with 28 cerebellar tubers were identified. All cerebellar tubers occurred within the lateral portions of the cerebellar hemispheres. Thirteen cerebellar tubers demonstrated calcification. Ten cerebellar tubers showed contrast enhancement, half of which demonstrated a zebra-like appearance. A vascular anomaly was associated with 12 tubers, one of which subsequently developed parenchymal hemorrhage. Fifteen cerebellar tubers demonstrated complex dynamic changes in size and contrast enhancement. Patients with cerebellar tubers had more cerebral tubers ( p  = 0.001). Conclusion  Cerebellar tubers demonstrate a specific distribution, suggesting a possible influence on higher brain function. The presence of an associated vascular anomaly may be an important imaging characteristic. Cerebellar tubers may be associated with a more severe manifestation of TSC, given their association with increased numbers of cerebral tubers. These findings may provide insights into the pathogenesis and clinical manifestations of cerebellar tubers in TSC patients.