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Síndrome de Sanfilippo - Symptom

Nombres alternativos

MPS III

Síntomas:

A diferencia de las otras formas de MPS, los síntomas aparecen después del primer año de vida. De manera característica, se presenta una disminución en la capacidad de aprendizaje entre las edades de 2 y 6 años. El niño puede tener un crecimiento normal durante los primeros años, pero su estatura final está por debajo del promedio. El retraso en el desarrollo es seguido por un deterioro del estado mental.

Otros síntomas abarcan:

  • Problemas de comportamiento
  • Rasgos faciales toscos
  • Diarrea
  • Labios gruesos
  • Cejas gruesas que se encuentran en la mitad de la cara arriba de la nariz
  • Dificultades para dormir
  • Articulaciones rígidas que posiblemente no se extiendan por completo
  • Problemas para caminar

Pruebas y exámenes:

Un examen físico puede mostrar signos de inflamación del hígado y del bazo. Un examen ocular mostrará córneas transparentes, a diferencia de las córneas opacas que se ven en las personas con el síndrome de Hurler (MPS I H). Las pruebas neurológicas revelarán signos de convulsiones y retardo mental.

Se realizarán exámenes de orina. Las personas con el síndrome de Sanfilippo tienen cantidades grandes de un mucopolisacárido, llamado heparán sulfato, en la orina.

Otros exámenes pueden ser:

  • Reviewed last on: 5/16/2011
  • 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.
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