Silent angel: A case report on Rett syndrome | Zendy

Era R. Sharma | Zendy; Ashish V. Debsikdar | Zendy; Nilesh Naphade | Zendy; Jyoti V. Shetty | Zendy

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Silent angel: A case report on Rett syndrome

Author(s) -

Era R. Sharma,

Ashish V. Debsikdar,

Nilesh Naphade,

Jyoti V. Shetty

Publication year - 2015

Publication title -

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 , neurodevelopmental disorder , pediatrics , developmental psychology , neuroscience , physical medicine and rehabilitation , medicine , psychiatry , genetics , autism , 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

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