RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164076199
T1 Lafora Syndrome or Disease
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164076199
RD 2024/04/20
AB It  is  a  very  rare  congenital  neurodegenerative  and  progressive  myoclonic  syndrome  associated  with  seizures  and  severe  mental  deterioration.  It  is  characterized  by  the  presence  of  intracellular  inclusions  bodies,  Lafora  bodies,  in  the  cell  of  the  heart,  liver,  muscle,  and  skin.  Patients  develop  the  first  clinical  signs  during  adolescence  and  they  consist  of  severe  seizures,  syncope,  myoclonus,  ataxia,  and,  rapid  development  of  dementia.  The  life  expectancy  of  all  individuals  affected  with  Lafora  disease  (LD)  is  the  age  of  25,  but  death  usually  happen  within  10  years  of  the  onset  of  symptoms.  At  present,  there  is  no  cure  or  treatment  for  this  disease.