RETT Syndrome A Tryst with Development and Dilemma

Subham Basu, Subhajit Saha

Abstract: What the eye doesnt see and the mind doesnt know doesnt 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 , doesnt 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