Silent angel: A case report on Rett syndrome

Abstract

Rett syndrome is a disorder characterized by arrested neurodevelopment due to mutation of the MECP2 gene. We present one such case of a 2.5-year-old female with no prior diagnostic intervention. History revealed normal physical and mental development for the first 6-8 months of life, followed by a pattern of deceleration across all growth measurements, especially microcephaly. Characteristic midline hand stereotypical movement along with loss of purposeful hand movements was also observed. Rett syndrome provides us with a diagnostic challenge. Awareness of this disorder is important because early identification and timely intervention can help both the patient and their families.