CASE REPORT
Year : 2015  |  Volume : 8  |  Issue : 2  |  Page : 247-249

Silent angel: A case report on Rett syndrome

Era R Sharma, Ashish V Debsikdar, Nilesh M Naphade, Jyoti V Shetty
Department of Psychiatry, Bharati Vidyapeeth University Medical College and Hospital, Pune, Maharashtra, India

Correspondence Address:
Era R Sharma
Room No. 3, Department of Psychiatry, Bharati Hospital, Bharati Vidyapeeth Medical College, Katraj, Pune - 411 043, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0975-2870.153178

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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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