Dystonia, hyperintense basal ganglia, and high whole blood manganese levels in Alagille's syndrome.
Publication/Presentation Date
4-1-1994
Abstract
Hyperintensity of the globus pallidus on T1-weighted magnetic resonance imaging (MRI) has been reported in patients with chronic liver disease. This abnormality has been associated with the severity of liver disease and tremor, but its cause is unknown. Similar MRI signal abnormalities have been reported in experimental models of manganese neurotoxicity. 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 hyperintense globus pallidi and subthalamic nuclei on T1-weighted but not T2-weighted MRI. Liver transplantation was performed; 2 months later, neurological function was improved, manganese levels were normal, and the MRI signal abnormality had completely resolved. This child had neurological findings described in manganese neurotoxicity with compatible laboratory and radiological findings. Manganese is excreted by the liver in bile, and toxicity may have resulted from the inadequacy of this mechanism, subsequently corrected by liver transplantation.
Volume
106
Issue
4
First Page
1068
Last Page
1071
ISSN
0016-5085
Published In/Presented At
Devenyi, A. G., Barron, T. F., & Mamourian, A. C. (1994). Dystonia, hyperintense basal ganglia, and high whole blood manganese levels in Alagille's syndrome. Gastroenterology, 106(4), 1068–1071. https://doi.org/10.1016/0016-5085(94)90769-2
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
8143974
Department(s)
Department of Pediatrics
Document Type
Article