Open AccessSilent angel: A case report on Rett syndrome
Author(s) -
Era R Sharma,
Ashish V Debsikdar,
Nilesh M Naphade,
Jyoti V Shetty
Publication year - 2015
Publication title -
medical journal of dr. d y patil university/medical journal of dr. d.y. patil university
Language(s) - English
Resource type - Journals
eISSN - 2278-7119
pISSN - 0975-2870
DOI - 10.4103/0975-2870.153178
Subject(s) - rett syndrome , mecp2 , microcephaly , intervention (counseling) , psychology , pediatrics , developmental psychology , neuroscience , physical medicine and rehabilitation , medicine , psychiatry , genetics , gene , biology , phenotype
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