کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3084794 | 1189783 | 2014 | 5 صفحه PDF | دانلود رایگان |
BackgroundChorea as a nonprogressive abnormality is often associated with Sydenham chorea in the pediatric population. Benign hereditary chorea is a condition where chorea presents before age 5 years and runs a very slowly progressive course.PatientsWe present a family that was thought to have a variant of Huntington disease but on genetic testing was confirmed to have benign hereditary chorea. We describe a 7-year-old girl in this family who presented with involuntary movements and hyperactivity.ResultsOur family was determined to have benign hereditary chorea after extensive genetic testing and follow-up.ConclusionsWhen chorea presents as a familial entity, the differential diagnosis is limited and is often misdiagnosed as Huntington disease. In this family benign hereditary chorea was found to be the cause.
Journal: Pediatric Neurology - Volume 51, Issue 4, October 2014, Pages 532–536