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Lipofuscinosis neuronal ceroidea - Treatment

Nombres alternativos

Lipofuscinosis; Enfermedad de Batten; enfermedad de Jansky-Bielschowsky; Enfermedad de Kufs; Enfermedad de Spielmeyer-Vogt

Tratamiento:

El tratamiento depende del tipo y magnitud de los síntomas. Es posible que se necesiten asistencia y cuidados de por vida.

Grupos de apoyo:

Para buscar información y apoyo, ver www.bdsra.org.

Pronóstico:

Cuanto más joven sea la persona cuando aparece la enfermedad, mayor será el riesgo de discapacidad y de muerte temprana. Las personas que desarrollan la enfermedad a temprana edad pueden tener problemas de visión, que progresan hasta la ceguera, y problemas con la función mental que empeoran. Si la enfermedad surge en el primer año de vida, es probable que la muerte se presente hacia los 10 años.

Si la enfermedad ocurre en la adultez, los síntomas serán más leves sin pérdida de visión y con una expectativa de vida normal.

Posibles complicaciones:

  • Deterioro visual o ceguera (con las formas de la enfermedad de aparición temprana)
  • Deterioro mental que va desde retardo severo al nacer hasta demencia posteriormente en la vida.
  • Músculos rígidos (debido a problemas severos con los nervios que controlan el tono muscular)

La persona puede llegar a ser totalmente dependiente de otros para que la ayuden con las actividades cotidianas.

Cuándo contactar a un profesional médico:

Consulte con el médico si su hijo muestra síntomas de ceguera o retardo.

  • Reviewed last on: 10/14/2009
  • Luc Jasmin, MD, PhD, Departments of Anatomy and Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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