Rett Syndrome

Aka: Rett Syndrome, Rett's Disorder

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II. Epidemiology

  1. Most frequent cause of mental Disability in girls (1 in 10,000 to 15,000)

III. Pathophysiology

  1. Neurodevelopmental disorder
  2. X-linked trait and affects only girls in the vast majority of cases (very rare in boys)
    1. MECP2 Gene mutation (95% occur at methyl CpG-binding Protein)

IV. Signs

  1. Regression of previously acquired skills
  2. Decreased head growth
  3. Speech loss
  4. Gait Abnormality
  5. Loss of purposeful hand movement
    1. Replaced by repetitive movements (e.g. hand wringing)
  6. Seizures

V. Differential Diagnosis

  1. Cerebral Palsy
  2. Autism
  3. Angelman Syndrome

VI. Resources

  1. Rett Syndrome Research Trust
    1. https://reverserett.org/

VII. References

  1. Bollu (2019) Stat Pearls +PMID: 29489169

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