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Recent experience with Rett syndrome at a tertiary care center
S Kumar1, M Alexander, C Gnanamuthu
1Department of Neurological Sciences, Christian Medical College, Vellore - 632 004, India. drsudhirkumar@yahoo.com
Insights
Rett syndrome (RS), a rare neurodevelopmental disorder, affects cognitive function in girls. Early diagnosis is crucial as RS is often misdiagnosed in the Indian population.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Rett syndrome (RS) is a significant cause of cognitive impairment in females.
- It is frequently misdiagnosed as autism, cerebral palsy, or idiopathic intellectual disability.
- Limited case reports exist for the Indian population.
Purpose of the Study:
- To report cases of Rett syndrome in Indian female children.
- To highlight the diagnostic challenges and the importance of early identification.
Main Methods:
- Clinical case series presentation.
- Review of medical histories and diagnostic findings for four pediatric patients.
Main Results:
- Four female children diagnosed with Rett syndrome are presented.
- The study underscores common misdiagnoses encountered in these patients.
Conclusions:
- Early diagnosis of Rett syndrome is critical for appropriate management.
- Increased awareness and reporting from the Indian subcontinent are needed.
Abstract:
Rett syndrome (RS), a neurological developmental disorder, is one of the commonest causes of cognitive impairment in girls and women. These patients are often initially misdiagnosed as idiopathic mental retardation, cerebral palsy, or autism. Despite several reports from the West, there are very few reports from the Indian population. We present four female children with RS and emphasize the importance of early diagnosis.
