Acute onset anarthria without hepatic manifestation: a rare presentation of Wilson disease. (20th August 2013)

• Record Type: Journal Article
• Authors: Verma, Rajesh; Bhandari, Aveg; Tiwari, Navin; Chaudhari, Tejendra S
• Is Part Of: BMJ case reports. Volume 2013
• Publication Date: 2013-08-20
• Subjects: Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2013-010415
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : Wilson disease (WD) is one of the few inherited but treatable disorder mainly affecting the liver and brain resulting in severe disability or death if left untreated. Hence, it is important to keep a high index of suspicion for diagnosing this clinical entity in appropriate clinical settings. The clinical presentation can be quite variable and they may present solely with neurological features sans hepatic symptoms. Such neurological manifestations usually follow subacute to chronic course. Acute onset anarthria as the heralding and predominant presenting feature has been rarely reported in the literature. We reported a case of a 12-year-old girl who presented with acute onset anarthria and dystonia of 1-month duration. On further evaluation, a diagnosis of WD was made. The patient showed partial improvement after she was started on copper chelating agents and anticholinergics.