Updated: 10/11/2016

Rett Syndrome

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Introduction
  • Progressive impairment and developmental delays seen in girls 6-18 months
  • Epidemiology
    • incidence
      • 1 in 10,000 births
    • demographics
      • male fetuses (only 1 X chromosome) do not survive to term
      • female fetuses (1 mutated gene, 1 normal gene) survive and manifest disease
  • Pathophysiology
    • affects the grey matter of the brain
  • Genetics
    •  inheritance pattern
      • X-linked dominant pattern
    • mutation
      • MECP2 gene mutation
        • this gene encodes the methyl-CpG-binding protein-2, which methylates DNA
      • 95% de novo mutation 
      • mutation is on male copy of X chromosome
  • Associated conditions
    • medical conditions
      • development delay
      • seizures
        • 80% of cases
      • behavioral abnormalities
        • screaming and crying
        • loss of speech
      • gastrointestinal
        • constipation
    • orthopaedic
      • spasticity and joint contractures
      • ataxia
      • hypotonia
      • bruxism (grinding of teeth)
      • chorea (abnormal hand movement)
      • scoliosis with C-shaped curve
        • develops at the age of 10
        • occurs in more than 50% of patients
        • does not respond to bracing
        • instrumentation must include entire scoliotic and kyphotic curve
  • Prognosis
    • half of children unable to walk after the age of ten due to deterioration of motor function
      • development is normal until 6 to 18 months then progressive impairment and development delays occur
      • regression is rapid until the age of three
      • a more stable phase of progression occurs until age of 10
Presentation
  • Symptoms
    • normal development for first 6-18 months of life
    • when symptoms present, they range widely from mild to severe including
      • apraxia
        • loss of purposeful movements in the hands
        • often the first sign of the disease
      • mental slowing (i.e. signs of dementia)
      • abnormal breathing
      • difficulty ambulating
      • seizures
  • Physical exam
    • apraxia
    • abnormal gait
    • scoliosis
    • decreased head circumference
      • usually starts to become evident at 5-6 months
    • poor circulation indicated by cold, blue extremities
Imaging
  • Radiographs
    • recommended views
      •  AP pelvis
        • findings
          • coxa vara
      • scoliosis films 
        • findings
          • C-shaped curve
Studies
  • Diagnosis is based primarily on patient development history and clinical observations
  • Genetic testing
    • may identify genetic mutation responsible for disease, though not in all cases
Treatment
  • Nonoperative
    • symptom management
      • there is no specific treatment for Rett's syndrome
      • assistance with feeding and hygeine
      • treat seizures
    • physical therapy
      •  indicated to avoid hand contracture
  • Operative
    • posterior spinal fusion
      • indications
        • thoracic curve that interferes with sitting and balance
        • C-shaped curve does not respond to bracing
      • technique
        • instrumentation must include entire scoliotic and kyphotic curve
 

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