Rett syndrome

Rett syndrome is a rare neurodegenerative disease seen in young girls in the 2nd to 4th months of life.  The majority of cases result from a mutation in the MECP2 gene; a more severe subset of the disease arises from a CDKL5 mutation1.

Following a period of normal development, with a normal prenatal and perinatal period with normal developmental progress for the first 5–6 months of life, a deceleration of head growth is seen, followed by behavioural regression and arrest of motor and cognitive development (reduction or loss of acquired skills such as purposeful hand function, vocalisation, and communication skills) 1.

Tortuous hand wringing, hand washing, clapping, patting, or other more bizarre hand automatisms during waking hours are described as a hallmark of RS 3.

Apraxia may lead to a misdiagnosis of autism.

Skeletal abnormalities are also common such as:

  • severe spinal scoliosis
  • negative ulnar variance
  • metacarpal and metatarsal bones shortening
  • reduced bone density and as a consequence increased incidence of pathological fractures 4-6

Imaging demonstrates volume reduction in the frontotemporal cortex and caudate lobe.

Skeletal abnormalities as described above. 

It was named after Andreas Rett (1924-1997), an Austrian neurologist who first described the syndrome 2

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Article information

rID: 7277
Section: Syndromes
Synonyms or Alternate Spellings:
  • Rett's syndrome
  • Cerebroatrophic hyperammonemia

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