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Enfermedad de Krabbe - Symptom

Nombres alternativos

Leucodistrofia de las células globoides; Deficiencia de galactosilcerebrosidasa; Deficiencia de galactosilceramidasa

Síntomas:

Enfermedad de Krabbe de aparición temprana:

  • Cambios en el tono muscular de flácido a rígido (postura de descerebración)
  • Hipoacusia que lleva a sordera
  • Retraso en el desarrollo
  • Dificultades en la alimentación
  • Irritabilidad y sensibilidad a los ruidos altos
  • Convulsiones severas (pueden comenzar a edad muy temprana)
  • Fiebres inexplicables
  • Pérdida de la visión que lleva a ceguera
  • Vómitos

Enfermedad de Krabbe de aparición tardía:

Los problemas de visión pueden aparecer primero, seguidos de dificultades para caminar y músculos rígidos. Los síntomas varían de una persona a otra y se pueden presentar otros síntomas.

Pruebas y exámenes:

El examen de la retina en el ojo puede mostrar daño al nervio óptico. En las etapas avanzadas del trastorno, puede haber signos de sordera y postura anormal.

Los exámenes que se pueden hacer abarcan:

  • Reviewed last on: 5/15/2011
  • Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Vanier M. Disorders of sphingolipid metabolism. In: Fernandes J, Saudubray J-m, van den Berghe G, Walter JH, eds. Metabolic Diseases: Diagnosis and Treatment. 4th ed. New York, NY:Springer; 2006:chap 38.

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