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Síndrome de Lesch-Nyhan - Treatment

Tratamiento:

No existe un tratamiento específico para el síndrome de Lesh-Nyhan. El medicamento para la gota alopurinol disminuye eficazmente los niveles de ácido úrico, pero no mejora el pronóstico neurológico.

Algunos síntomas se pueden aliviar con los medicamentos carbidopa o levodopa, diazepam, fenobarbital o haloperidol.

Expectativas (pronóstico):

El pronóstico probablemente sea desalentador. Las personas con este síndrome por lo general requieren ayuda para caminar y sentarse y normalmente necesitan una silla de ruedas para movilizarse.

Complicaciones:

Es probable que se presente discapacidad progresiva y severa.

Situaciones que requieren asistencia médica:

La persona debe consultar con el médico si su hijo comienza a presentar signos de esta enfermedad o si hay antecedentes familiares del síndrome de Lesch-Nyhan.

  • Reviewed last on: 4/26/2010
  • 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

Harris JC. Disorders of purine and pyrimidine metabolism. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 89.

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