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RETT Syndrome: A Tryst with Development and Dilemma

Journal: International Journal of Science and Research (IJSR) (Vol.11, No. 2)

Publication Date:

Authors : ; ;

Page : 765-766

Keywords : Rett syndrome; ASD; Cerebral Palsy; Neurodevelopmental Regression;

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Abstract

"What the eye doesn?t see and the mind doesn?t know doesn't exist even if it does" - quoted by English writer D H Lawrence is most commonly used in the medical field and to cite a perfect example of it we present a rare disease, Rett Syndrome which we although know , doesn't strike in our mind.Itis a rare X-linked dominant and severe neurodevelopmental disorder found only in females falling under Autism Spectrum Disorder (ASD) causing severe intellectual disability. We report one such case of a 16 year old girl who remained misdiagnosed as cerebral palsy for a long period of time , presented to the Accident and Emergency of IQ City Medical College & Hospital with history of fever,multiple episodes of generalised tonic clonic convulsions , stereotypical hand movements and history of neuro-developmental regression.

Last modified: 2022-05-14 21:00:31