• Mumuksha Modi
• Nikita Patel

Background: Rett syndrome (RTT) is a neurodevelopmental disorder characterized by a normal perinatal period with a normal head size at birth followed by normal development for the first 7-18 months of life followed by gradual deceleration of head growth, loss of acquired purposeful hand skills, limited gross motor abilities and gait and truncal apraxia/ ataxia. RTT was originally limited to females. However, advances in genetic testing and phenotypic identification revealed that similar cases are being reported in males as well. Several males were identified with RTT upon genetic analysis, survived beyond the age of 2 years, were attributed to the presence of an extra X chromosome or the ones having mosaic cell lines. Only 11 males with somatic mosaicism are known till date. Case: We present an ultra-rare case of a 4-year-old male affected with RTT due to post zygotic de novo somatic mosaicism who was screened with whole exome sequencing and Sanger sequencing. According to the preliminary examination, gross motor abilities were examined through Rett syndrome gross motor scale, hand function was classified through level of purposeful hand function and functional ability was assessed with WeeFIM score. Physiotherapy was given for 24 weeks, 5 days a week. The purpose of this report is to demonstrate the effect of physiotherapy on gross motor abilities attributed with characteristics of Rett syndrome. Conclusion: This report outlines improvements in gross motor skills through physiotherapy, which would improve patients' functional ability.

Rett syndrome, male, physiotherapy, gross motor

"Effect of Pediatric Physiotherapy on Ultra-Rare Case of Male Child With Post Zygotic De Novo Mutation in Rett Syndrome: A Case Report", International Journal of Emerging Technologies and Innovative Research (www.jetir.org), ISSN:2349-5162, Vol.11, Issue 12, page no.c438-c443, December-2024, Available :http://www.jetir.org/papers/JETIR2412249.pdf

"Effect of Pediatric Physiotherapy on Ultra-Rare Case of Male Child With Post Zygotic De Novo Mutation in Rett Syndrome: A Case Report", International Journal of Emerging Technologies and Innovative Research (www.jetir.org | UGC and issn Approved), ISSN:2349-5162, Vol.11, Issue 12, page no. ppc438-c443, December-2024, Available at : http://www.jetir.org/papers/JETIR2412249.pdf