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Síndrome de Rett - Overview

Definición:

Es un trastorno del sistema nervioso que lleva a una regresión en el desarrollo, especialmente en las áreas del lenguaje expresivo y el uso de las manos.

Causas, incidencia y factores de riesgo:

El síndrome de Rett se presenta casi exclusivamente en las niñas y se puede diagnosticar erróneamente como autismo o parálisis cerebral.

Los estudios han asociado muchos casos de síndrome de Rett con un defecto en el gen de la proteína 2 de unión a metil-CpG (MeCP2). El gen se encuentra en el cromosoma X. Las mujeres tienen dos cromosomas X, así que aun cuando uno presenta este defecto significativo, el otro cromosoma es lo suficientemente normal para que la niña sobreviva.

Los varones nacidos con esta mutación no tienen un segundo cromosoma X para compensar el problema, por lo tanto, el defecto generalmente ocasiona aborto espontáneo, mortinato o muerte muy prematura.

La enfermedad afecta a aproximadamente 1 de cada 10,000 niños. Los grupos de la enfermedad han aparecido dentro de familias y ciertas regiones geográficas, incluyendo Noruega, Suecia y el norte de Italia.

  • Reviewed last on: 11/12/2010
  • Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Shah PE, Dalton R, Boris NW. Pervasive developmental disorders and childhood psychosis. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 29.

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