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 nbsp;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
Keywords
Abstract
Lafora hastal›¤›, başlangıçta iyi seyirli epileptik sendromlar ile kar›flt›r›labilen, nöbetler, miyoklonus ve mental y›k›mla nitelenen, otozomal çekinik (resesif) geçiflli, nadir ilerleyici bir miyoklonik epilepsidir. Bu yaz›da tedaviye dirençli nöbetler ve demans nedeniyle baflvuran, öncesinde juvenil miyoklonik epilepsi tan›s› alarak takip edilmifl, klini¤imizde cilt biyopsisinde Lafora cisimcikleri gösterilmesi üzerine Lafora hastal›¤› tan›s› alan 17 yafl›nda bir olgu nadir görülmesi ve di¤er iyi seyirli miyoklonik epilepsilerle kar›flabilmesi nedeniyle sunulmuştur.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Case Report |
| Authors | |
| Publication Date | June 1, 2011 |
| Published in Issue | Year 2011 |