Neurol Case Rep | Volume 5, Issue 1 | Case Report | Open Access
Matta C1, Costa J1*, Yazbek S2 and Abboud H1
1Department of Neurology, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon 2Department of Diagnostic Radiology and Nuclear Medicine, University of Maryland School of Medicine, USA
Fulltext PDFErdheim-Chester Disease (ECD) is a rare histiocytic multisystem disease, affecting bones, heart, aorta, lungs, skin, retroperitoneum and Central Nervous System (CNS), caused by a mutation in the MAPK signaling pathway, often the BRAF proto-oncogene. We report the case of a 42-year-old man presenting with cognitive impairment and progressive cerebellar ataxia due to the CNS involvement of his ECD.
Erdheim-Chester disease; Ataxia; Dementia; Neuroimaging
Matta C, Costa J, Yazbek S, Abboud H. A Rare Cause of Progressive Cerebellar Ataxia and Dementia. Neurol Case Rep. 2022; 5(1):1033..