DYSTONIA, HYPERINTENSE BASAL GANGLIA, AND HIGH WHOLE-BLOOD MANGANESE LEVELS IN ALAGILLES SYNDROME

Hyperintensity of the globus pallidus on T1-weighted magnetic resonanc e imaging (MRI) has been reported in patients with chronic liver disea se. This abnormality has been associated with the severity of liver di sease and tremor, but its cause is unknown. Similar MRI signal abnorma lities have been reported in experimental models of manganese neurotox icity. This case report describes a child with Alagille's syndrome and end-stage liver disease who developed dystonia and tremor associated with an elevated whole blood manganese level and symmetric hyperintens e globus pallidi and subthalamic nuclei on T1-weighted but not T2-weig hted MRI. Liver transplantation was performed; 2 months later, neurolo gical function was improved, manganese levels were normal, and the MRI signal abnormality had completely resolved. This child had neurologic al findings described in manganese neurotoxicity with compatible labor atory and radiological findings. Manganese is excreted by the liver in bile, and toxicity may have resulted from the inadequacy of this mech anism, subsequently corrected by liver transplantation.