Abstract

CORONEL CARVAJAL, Carlos. Síndrome de Rett: un nuevo reto para los pediatras. Revisión bibliográfica. Rev Cubana Pediatr [online]. 2002, vol.74, n.2, pp. 162-167. ISSN 1561-3119.

An updated literature review on Rett syndrome is presented. This neurodegenerative disorder with a characteristic clinical picture only occurs in girls, most of the cases are sporadic and genetically determined. It has been recently found in patients after studying the MECP2 protein that codifies the gene in band 8 of region 2 in the long arm of X chromosome(Xq 28), which suggests a dominant X chromosome-linked dominant de novo mutation. The diagnosis of Rett syndrome is made based on observation and clinical assessment since there are no biochemical or genetic markers facilitating the determination of the syndrome and besides its origin is unknown. The internationally established criteria including necessary, complementary criteria and exclusion elements are used. Rett syndrome should be considered in female patients with infantile cerebral palsy or idiopathic mental retardation, with the support of internationally set criteria.

Keywords : RETT SYNDROME [genetics]; RETT SYNDROME [diagnosis]; CEREBRAL PALSY; MENTAL RETARDATION; CHILD; FEMALE.

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