Makindo Medical Notes

Early development is normal until 1-2 years when severe problems with language, communication, learning, coordination, and other brain functions begin to manifest.

About

• Rett syndrome is a neurodevelopmental disorder affecting grey matter in the brain.
• It is a sporadic disorder caused by a de novo mutation in the MECP2 gene located on the X chromosome.
• Seen primarily in females, with an incidence of 1 in 8,500 females. It is embryonically lethal in males, though rare male cases exist.
• Initial development is typically normal until 6-18 months, after which affected individuals experience regression in motor, verbal, and cognitive abilities, along with ataxia, seizures, scoliosis, and stereotypic hand-wringing.

Aetiology

• Most cases are due to new mutations in the MECP2 gene, which regulates other genes necessary for brain development.

Clinical Features

• Initially normal development up to 6-18 months.
• Progressive loss of motor skills, verbal abilities, and cognitive function.
• Ataxia, hypotonia, and chorea.
• Autistic-like behavior, stereotypic hand-wringing, and episodes of screaming.
• Palpitations or syncope due to arrhythmias.
• Other features: Epilepsy, gastroesophageal reflux disease (GORD), osteoporosis, scoliosis.

Stages of Rett Syndrome

• Early signs: Hypotonia, difficulty feeding, unusual hand movements, delayed mobility milestones (sitting, crawling, walking), and lack of interest in toys.
• Regression (Ages 1-4): Severe loss of communication and language skills, hand use, mobility, and coordination. May resemble autism spectrum disorder. Hand-wringing, social withdrawal, irritability, breathing irregularities, and problems with eating or swallowing.
• Plateau: Seizures, abnormal breathing patterns, and arrhythmias become more common. Teeth grinding and sleep disturbances may also develop.
• Late deterioration: Significant decline in movement abilities, with scoliosis, muscle weakness, spasticity, and loss of walking or talking skills. Seizures may settle over time, but motor function typically continues to deteriorate over years or decades.

Investigations

• Genetic testing: For mutations in the MECP2 gene.
• CT/MRI Brain: Imaging may show abnormalities in brain structure.

Management

• Supportive care: Focuses on managing symptoms and maintaining quality of life.
• Anticonvulsants: To manage seizures.
• Multidisciplinary approach: Involves physical therapy, speech therapy, and specialist care to address developmental, motor, and communication issues.
• Monitoring: Regular assessments for scoliosis, arrhythmias, and other complications.

References

• Rett syndrome - NHS