Juvenile Huntington's disease presenting as progressive myoclonic epilepsy

A 9-year-old girl, who had no family history of neurologic diseases in the first-degree relatives, had a 3-year history of progressive myoclonus epile psy (PME). A thorough laboratory investigation was normal. As two sisters o f her paternal grandmother were said to have Huntington's disease (HD), the authors looked for HD and found a CAG repeat expansion of 115 repeats. Thi s diagnosis should be cons causes in patients with PME. Moreover, the curre nt case further supports the notion that HD should be considered even when a family history is not obvious.