Abstract
Juvenile Huntington's disease (JHD) shares many general clinical features with the adult form. One important difference is that JHD patients experience more epileptic manifestations, sometimes difficult to control. We describe an atypical clinical picture of a genetically confirmed JHD patient diagnosed during evaluation for a progressive myoclonic epilepsy. A female patient with a family history of psychiatric disorders developed recurrent drug-resistant myoclonic seizures at the age of 6 years, followed by extrapyramidal symptoms (rigidity and dystonia). Cognitive impairment, akinetic rigidity syndrome, and dystonia were noticed at the age of 10 years. Epileptiform abnormalities were noted in ictal electroencephalography. Magnetic resonance imaging showed brain atrophy. Genetic testing for HD confirmed the diagnosis. JHD can initially manifest as myoclonic epilepsy. A DNA testing should be performed if clinical history is suggestive.
Keywords
juvenile Huntington's disease - seizures - myoclonic epilepsy
