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

• Published in: Clinical imaging Vol. 101; pp. 183 - 189
• Main Authors: Weinstein, Robert M., Gowda, Prateek C., Yuan, Frank, Khalil, Adham, Motaghi, Mina, Garg, Tushar, Gong, Anna J., Lin, Doris D., Weiss, Clifford R.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01-09-2023
• Subjects: Arteriovenous malformation; Basal ganglia; Hereditary hemorrhagic telangiectasia; Manganese; MRI; Basal ganglia; Hereditary hemorrhagic telangiectasia; MRI; Arteriovenous malformation; Manganese
• ISSN: 0899-7071; 1873-4499
• DOI: 10.1016/j.clinimag.2023.06.012

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