Lafora disease: a progressive myoclonic epilepsy/ Lafora hastaligi: ilerleyici bir miyoklonik epilepsi

Citation metadata

Authors: Olcay Unver, Cuyan Demirkesen and Serap Uysal
Date: June 2011
From: Turkish Pediatrics Archive
Publisher: AVES
Document Type: Case study
Length: 1,358 words

Main content

Abstract :

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) Key words: Lafora disease, myoclonus, progressive myoclonic epilepsy Lafora hastaligi, baslangicta iyi seyirli epileptik sendromlar ile karistirilabilen, nobetler, miyoklonus ve mental yikimla nitelenen, otozomal cekinik (resesif) gecisli, nadir ilerleyici bir miyoklonik epilepsidir. Bu yazida tedaviye direncli nobetler ve demans nedeniyle basvuran, oncesinde juvenil miyoklonik epilepsi tanisi alarak takip edilmis, klinigimizde cilt biyopsisinde Lafora cisimcikleri gosterilmesi uzerine Lafora hastaligi tanisi alan 17 yasinda bir olgu nadir gorulmesi ve diger iyi seyirli miyoklonik epilepsilerle karisabilmesi nedeniyle sunulmustur. (Turk Ped Ars 2011; 46: 168-70) Anahtar sozcukler: Lafora hastaligi, miyoklonus, progresif miyoklonik epilepsi

Source Citation

Source Citation
Unver, Olcay, et al. "Lafora disease: a progressive myoclonic epilepsy/ Lafora hastaligi: ilerleyici bir miyoklonik epilepsi." Turkish Pediatrics Archive, 2011, p. 168+. Accessed 2 Aug. 2021.
  

Gale Document Number: GALE|A257125751