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[Rett syndrome].

L Amarales, M Ortiz

Revista Chilena De Pediatria

|July 1, 1989

Summary

This case study presents a girl with Rett syndrome, a neurodevelopmental disorder. Early normal development was followed by progressive neurological decline, hand use loss, and autistic behaviors.

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Area of Science:

Neuroscience
Genetics
Developmental Pediatrics

Background:

Rett syndrome is a rare genetic neurodevelopmental disorder.
It primarily affects girls, typically presenting in the first year of life.

Observation:

The presented case showed normal early growth and psychomotor development.
Following the first year, progressive neurological and mental impairment became evident.

Findings:

Key findings include loss of purposeful hand use, stereotyped movements, and autistic behaviors.
Other observed symptoms were abnormal electroencephalogram (EEG) and microcephaly, along with bruxism.

Implications:

This case highlights the diagnostic criteria and clinical presentation of Rett syndrome.
Understanding such cases aids in early diagnosis and management of neurodevelopmental disorders.