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Síndrome de Bassen-Kornzweig - Symptom

Nombres alternativos

Abetalipoproteinemia; Acantocitosis; Deficiencia de apolipoproteína B

Síntomas:

  • Dificultades de equilibrio y coordinación
  • Curvatura de la columna vertebral
  • Disminución de la visión que empeora con el tiempo
  • Retardo en el desarrollo
  • Retraso en el crecimiento en la lactancia
  • Debilidad muscular
  • Mala coordinación muscular que por lo general se desarrolla a partir de los diez años de edad
  • Protrusión del abdomen
  • Dificultad en el habla
  • Anomalías fecales, incluyendo:
    • deposiciones grasas que aparecen de color pálido
    • heces espumosas
    • heces de olor anormalmente fétido

Pruebas y exámenes:

Puede haber daño a la retina del ojo (retinitis pigmentaria).

Los exámenes que se pueden hacer para ayudar a diagnosticar esta afección abarcan:

Puede haber disponibilidad de pruebas genéticas para las mutaciones en el gen MTP.

  • Reviewed last on: 8/4/2011
  • 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

Rodriguez-Oquendo A, Kwiterovich Jr PO. Dyslipidemias. In: Fernandes J, Saudubray J-M, van den Berghe G, Walter JH, eds. Inborn metabolic diseases: diagnosis and treatment. Germany: Springer; 2006:400-401.

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