Risk factors and clinical features associated with basal ganglia manganese deposition in patients with hereditary hemorrhagic telangiectasia.

T1-hyperintensity of the basal ganglia (BG) due to manganese deposition is a known radiologic finding in patients with hereditary hemorrhagic telangiectasia (HHT), but risk factors and associated clinical manifestations are unclear. This study conducted a quantitative analysis of the association of T1-hyperintensity in HHT patients with specific risk factors, signs, and symptoms. Patients seen at our center between 2005 and 2020 with a definitive diagnosis of HHT who had an available non-contrast T1-weighted brain MRI were included. Hyperintensity was evaluated using oval regions of interest measurements. The BG: thalamus intensity ratio was used to quantitatively evaluate T1-hyperintensity. Patient laboratory values and clinical findings were collected from electronic medical records. Hyperintensity was analyzed for its association with laboratory values, and clinical findings. Variables were analyzed through regression analysis. A total of 239 patients were included in this study. On 1.5 T scanners, values that were significant on multivariable regression analysis were age (p <.001), hepatic AVMs (p <.001), iron deficiency anemia (p =.0021), and cirrhosis (p =.016). On 3 T scanners, values that were significant on multivariable analysis were hepatic AVMs (p =.0024) and cirrhosis (p =.0056). On 3 T scanners, hyperintensity was significantly associated with tremor (OR = 1.17, p =.033), restless leg syndrome (OR = 1.22, p =.0086), and memory problems (OR = 1.17, p =.046). BG hyperintensity due to manganese deposition is significantly associated with hepatic risk factors on 1.5 T and 3 T scanners and iron deficiency anemia on 1.5 T scanners. On 3 T scanners, T1-hyperintensity is associated with neuropsychiatric signs and symptoms, such as tremor, restless leg syndrome, and memory problems. • T1-hyperintensity in the basal ganglia due to manganese deposition is a known finding in patients with hereditary hemorrhagic telangiectasia • However, the risk factors and clinical significance of these findings are unclear • Significant risk factors for deposition include increased age, iron deficiency anemia, hepatic AVMs, and liver cirrhosis • At a 3T field strength, significant associations were found between T1-hyperintensity and tremors, restless leg syndrome, and memory problems [ABSTRACT FROM AUTHOR]