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  • Snapshot
    • A 3-year-old girl is brought to the pediatrician by her mother. She had been growing well and meeting all her developmental milestones until a few months ago, when she started displaying hand movements that were unusual. On exam, she is active but frequently wrings her hands. Speech and language testing shows that she has regressed to the level expected of a 2-year-old. She is also noted to avoid any eye contact and showed disinterest in playing. She is sent for genetic testing.
  • Introduction
    • Overview
      • Rett syndrome is a degenerative neurological disorder affecting females, caused by sporadic mutation in MECP2 gene on the X chromosome
    • Epidemiology
      • demographics
        • females
          • mutation is fatal in males in utero or soon after birth
          • most common in Swedish, Norwegian, and northern Italian populations
    • Pathogenesis
      • characterized by 4 stages
        • stunted development
        • rapid regression of skills
        • pseudostationary
        • late motor deterioration
    • Genetics
      • inheritance pattern
        • sporadic
      • mutations
        • X chromosome
        • gene
          • MECP2, encoding methyl-CpG binding protein-2 (MeCP2) which is expressed in neural and glial cells
    • Prognosis
      • decreased life expectancy
  • Presentation
    • Symptoms
      • onset of symptoms typically occur between ages 1-4
      • common symptoms
        • regression of speech and language, motor, and cognitive skills
        • ataxia
        • stunted growth
        • apraxia
          • hand-wringing behavior
          • often the first sign of disease
        • avoidance of eye contact
        • unusual calmness
        • eventually results in cessation of walking
      • gastrointestinal symptoms
        • constipation
        • gastroesophageal reflux
        • difficulty swallowing
    • Physical exam
      • inspection
        • hand-wringing
        • seizure disorder
        • rigidity
        • scoliosis
  • Imaging
    • Radiograph
      • indication
        • evaluate for scoliosis
      • findings
        • scoliosis
    • Barium swallow
      • indication
        • difficulty swallowing
      • findings
        • may have increased tendency for aspiration
  • Studies
    • Genetic testing
      • diagnostic
  • Differential
    • Autism spectrum disorder (ASD)
      • key distinguishing factor
        • patients with ASD typically do not display regression in developed skills
  • Treatment
    • Treatment is aimed at treating symptoms associated with Rett syndrome
    • Lifestyle
      • specialty therapy
        • modalities
          • physical therapy
          • occupational therapy
          • behavioral therapy
    • Medical
      • anti-epileptic medications
        • indications
          • seizure disorder
    • Surgical
      • gastrostomy tube placement
        • indications
          • difficulty swallowing due to neurodegeneration
          • risk of aspiration
  • Complications
    • Aspiration pneumonia
    • Seizure disorder
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