Pediatric neurology · 2014
Benign hereditary chorea: a case report and brief review of inherited choreas.
Клинический случайСтатьяОбзорНазвание и аннотация: Перевод пока не подготовлен
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Kumar Gogi, Dixon Allison
Аннотация
BACKGROUND: Chorea 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.
PATIENTS: We 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.
RESULTS: Our family was determined to have benign hereditary chorea after extensive genetic testing and follow-up.
CONCLUSIONS: When 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.
PATIENTS: We 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.
RESULTS: Our family was determined to have benign hereditary chorea after extensive genetic testing and follow-up.
CONCLUSIONS: When 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.