Silent angel: A case report on Rett syndrome
Era R Sharma, Ashish V Debsikdar, Nilesh M Naphade and 1 more
Medical Journal of Dr. D.Y. Patil University · 2015
doi:10.4103/0975-2870.153178 (opens in a new tab)
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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.
Abstract licence: CC BY-NC-SA
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