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Case Studies | Paediatrics | India | Volume 11 Issue 2, February 2022

RETT Syndrome: A Tryst with Development and Dilemma

Subham Basu | Subhajit Saha

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.

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

Edition: Volume 11 Issue 2, February 2022,

Pages: 765 - 766