Lafora disease: a progressive myoclonic epilepsy

Unver O., Demirkesen C., Uysal S.

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, cilt.46, sa.2, ss.168-170, 2011 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 46 Sayı: 2
  • Basım Tarihi: 2011
  • Doi Numarası: 10.4274/tpa.46.66
  • Dergi Adı: TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.168-170
  • İstanbul Üniversitesi Adresli: Evet

Özet

Lafora disease is a rare autosomal recessive progressive myoclonic epilepsy characterized by seizures, myoclonus and progressive cognitive decline. At the beginning of the symptoms the disease may be misdiagnosed as benign epileptic syndromes. Herein we present a 17-year-old girl followed with juvenile myoclonic epilepsy who was later admitted to our clinic with refractory seizures and dementia. A skin biopsy showed Lafora bodies and the diagnosis of Lafora disease was made. (Turk Arch Ped 2011; 46: 168-70)