Barrios Sanjuanelo A, Muñoz Otero C
Universidad del Norte, Barranquilla, Colombia.
An Pediatr (Barc). 2010 Aug;73(2):94-7. doi: 10.1016/j.anpedi.2010.02.012. Epub 2010 May 10.
Progeria is a premature ageing syndrome. Werner Syndrome (WS) is a type of progeria in the adult which includes bilateral juvenile cataracts and cutaneous sclerodermiform changes; it is caused by a mutation if the WRN gene which codes a helicase, a DNA repair enzyme. A case is presented of a patient, a 12 year old girl, with characteristics of WS but with no identifiable mutation in the WRN gene, therefore it was classified as atypical Werner Syndrome (AWS).
