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Síndrome de Chediak-Higashi - Symptom

Síntomas:

Los niños con esta afección pueden presentar:

  • Cabello plateado y ojos de color claro (albinismo)
  • Aumento de las infecciones en los pulmones, la piel y las membranas mucosas
  • Movimientos espasmódicos del ojo (nistagmo)

La infección de niños afectados con ciertos virus, como el virus de Epstein-Barr (VEB), pueden causar una enfermedad mortal que se parece al cáncer sanguíneo linfoma.

Otros síntomas pueden abarcar:

  • Disminución en la visión
  • Discapacidad intelectual (retardo mental)
  • Debilidad muscular
  • Problemas nerviosos en las extremidades (neuropatía periférica)
  • Sangrados nasales o propensión a la formación de hematomas
  • Entumecimiento
  • Temblor
  • Convulsiones
  • Sensibilidad a la luz brillante (fotofobia)
  • Marcha inestable (ataxia)

Pruebas y exámenes:

El médico llevará a cabo un examen físico que puede mostrar signos de inflamación del bazo y el hígado o ictericia.

Los exámenes que se pueden hacer abarcan:

  • Hemograma completo, incluyendo conteo de glóbulos blancos
  • Conteo de plaquetas en la sangre
  • Frotis de sangre y hemocultivo
  • Resonancia magnética o tomografía computarizada del cerebro
  • EEG
  • EMG
  • Pruebas de conducción nerviosa
  • Reviewed last on: 8/4/2011
  • Chad Haldeman-Englert, MD, Wake Forest University 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

Boxer LA. Disorders of Phagocyte Function. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 129.

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