Rett syndrome. Two Cases Report

Abstract

Rett syndrome (RS) is a severe neurodevelopmental disorder that is a leading cause of mental retardation in females, characterized by an apparently normal psychomotor development through the first 6 months of life, followed by stagnation and growth regression in different areas like motor, language and social skills. RS is not a consequence of brain injury due to trauma, neurometabolic disease or severe infection; patients often exhibit autistic behaviors in the early stages. Other symptoms include seizures, breathing problems when awake such as hyperventilation, apnea, and swallowing air; ataxia and stereotypic hand movements. It is caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2). Two cases of RS are presented, one of them has a positive molecular study.

Acta Pediátrica Hondureña, Vol. 6, No. 1 Abril 2015 a Septiembre 2015: 438-443