Trisomy 21 and Rett syndrome: a double burden

Journal of Paediatrics and Child Health
H LeonardJohn Christodoulou

Abstract

Rett syndrome is a severe neurodevelopmental disorder generally affecting girls. Affected individuals are apparently normal at birth but later pass through a period of regression with loss of hand and communication skills and the development of hand stereotypies and dyspraxia. Mutations in the methyl-CpG binding protein 2 (MECP2) gene, have now been found to cause Rett syndrome in up to 80% of classical cases. We report a girl with Down syndrome, one of three children with birth defects in a family of five. From the age of 18 months she developed symptomatology considered by her primary physician to be very characteristic of Rett syndrome. However, this remained a clinical diagnosis till the age of 12 years. Laboratory confirmation of the dual diagnosis, which includes a R168X mutation in the MECP2 gene in addition to trisomy 21, has now been possible. The presence of one neurological or developmental disorder does not necessarily preclude a diagnosis of Rett syndrome.

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Citations

Jan 7, 2005·Journal of Medical Genetics·L S WeavingJ Christodoulou
Feb 6, 2007·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·S VoutoufianakisH Fryssira
Dec 15, 2010·Annals of Neurology·Jeffrey L NeulUNKNOWN RettSearch Consortium
Feb 18, 2014·Developmental Medicine and Child Neurology·Michael FreilingerHelen Leonard
Mar 26, 2005·Current Opinion in Neurology·Masaya Segawa, Yoshiko Nomura

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