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
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.
How to cite this article:
Sharma ER, Debsikdar AV, Naphade NM, Shetty JV. Silent angel: A case report on Rett syndrome.Med J DY Patil Univ 2015;8:247-249
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How to cite this URL:
Sharma ER, Debsikdar AV, Naphade NM, Shetty JV. Silent angel: A case report on Rett syndrome. Med J DY Patil Univ [serial online] 2015 [cited 2023 Sep 22 ];8:247-249
Available from: https://journals.lww.com/mjdy/pages/default.aspx/article.asp?issn=0975-2870;year=2015;volume=8;issue=2;spage=247;epage=249;aulast=Sharma;type=0 |
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