TY - JOUR AU - Amara, Nesrine; Feki, Fatma Kamoun; Triki, Chahnez Charfi TI - Drug-Resistant Myoclonic Epilepsy Revealing Juvenile Huntington's Disease: A Case Report SN - 2146-457X SN - 2146-4588 PY - 2018 JF - Journal of Pediatric Epilepsy LA - EN VL - 07 IS - 01 SP - 021 EP - 023 ET - 2018/04/04 DA - 2018/04/16 KW - juvenile Huntington's disease KW - seizures KW - myoclonic epilepsy AB - 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. PB - Georg Thieme Verlag KG DO - 10.1055/s-0038-1641727 UR - http://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0038-1641727 ER -