Rett syndrome (RS) 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.
Imaging demonstrates volume reduction in the frontotemporal cortex and caudate lobe.
History and etymology
It was named after Andreas Rett (1924-1997), an Austrian neurologist who first described the syndrome 2.
- 1. Weaving LS, Ellaway CJ, Gécz J et-al. Rett syndrome: clinical review and genetic update. J. Med. Genet. 2005;42 (1): 1-7. doi:10.1136/jmg.2004.027730 - Free text at pubmed - Pubmed citation
- 2. Rett A. On a unusual brain atrophy syndrome in hyperammonemia in childhood. Wien Med Wochenschr. 1968;116 (37): 723-6. Pubmed citation
- 3. Hagberg B. Rett syndrome: clinical peculiarities and biological mysteries. Acta Paediatr. 1996;84 (9): 971-6. Pubmed citation