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Rett syndrome: case reports and review
R P McIntosh1, D Simatos, H J Weston
1Department of Obstetrics and Gynaecology, Wellington School of Medicine.
Insights
Rett syndrome is a rare neurodevelopmental disorder causing psychomotor deterioration in young girls. Early diagnosis and understanding of its genetic basis are crucial for managing this progressive encephalopathy.
Area of Science:
- Neuroscience
- Genetics
- Pediatrics
Background:
- Rett syndrome is a progressive neurodevelopmental disorder primarily affecting young females.
- Characterized by normal early development followed by psychomotor deterioration between 6-18 months.
- Incidence is comparable to phenylketonuria and autism in females.
Observation:
- Key features include decelerated head growth after 6 months.
- Development of severe dementia, autism, apraxia, and stereotypic hand-wringing movements.
- Loss of acquired skills is a hallmark of the syndrome.
Findings:
- Supportive symptoms encompass breathing dysfunction, seizures, EEG abnormalities, and growth retardation.
- Sporadic new mutations are indicated as the primary cause.
- Presents case histories of two diagnosed patients in New Zealand.
Implications:
- Highlights the importance of recognizing Rett syndrome's distinct clinical profile.
- Emphasizes the role of genetic mutations in the etiology of this encephalopathy.
- Underscores the need for continued research into diagnosis and therapeutic strategies.
Abstract:
Rett syndrome consists of a progressive encephalopathy and psychomotor deterioration in young females who have appeared clinically normal until between six and eighteen months of age. The syndrome has incidence similar to that of phenylketonuria and autism in females. It has been widely recognised only since 1983. After six months of age head growth decelerates associated eventually with severe dementia, and autism, apraxia, stereotypic "hand washing" movements and loss of previously acquired skills occurs. Supportive symptoms may include breathing dysfunction, seizures, EEG abnormalities, and growth retardation. Occurrence indicates sporadic new mutations as a cause. The case histories of two patients diagnosed in New Zealand are described.
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