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
