A Member of the University of Maryland Medical System | In Partnership with the University of Maryland School of Medicine
Home > Medical Reference > Encyclopedia (English)
Toggle: English / SpanishAtaxia-telangiectasia - Symptom
Nombres alternativos
Síndrome de Louis-Bar
Síntomas:
- Disminución en la coordinación de movimientos (ataxia) a finales de la infancia
- marcha atáxica (ataxia cerebelosa)
- marcha espasmódica
- marcha inestable
- Disminución del desarrollo mental que se demora o se detiene después de los 10 a 12 años de edad
- Retraso para caminar
- Decoloración de áreas de piel expuestas a la luz solar
- Decoloración de la piel (manchas de color café con leche en la piel)
- Vasos sanguíneos dilatados en la piel de la nariz, las orejas y en la parte interna del codo y la rodilla
- Vasos sanguíneos dilatados en la esclerótica de los ojos
- Movimientos espasmódicos o anormales de los ojos (nistagmo) hacia el final de la enfermedad
- Encanecimiento prematuro
- Convulsiones
- Sensibilidad a la radiación, incluyendo los rayos X médicos
- Infecciones respiratorias severas que se repiten (reaparecen)
Pruebas y exámenes:
El médico llevará a cabo un examen físico que puede mostrar signos de:
- Amígdalas, ganglios linfáticos y bazo por debajo del tamaño normal
- Disminución o ausencia de los reflejos tendinosos profundos
- Retraso o ausencia del desarrollo físico y sexual
- Retraso en el desarrollo
- Cara con apariencia de máscara
- Cambios múltiples en el color y textura de la piel
Los posibles exámenes abarcan:
- Alfafetoproteína
- Prueba de detección de células B y T
- Antígeno carcinoembrionario
- Pruebas genéticas para buscar mutaciones en el gen de la AT
- Examen de tolerancia a la glucosa
- Niveles de inmunoglobulina sérica (IgE, IgA)
- Radiografías para examinar el tamaño del timo
- 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.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial policy, editorial process and privacy policy. A.D.A.M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).
The information provided herein should not be used during any medical emergency or for the
diagnosis or treatment of any medical condition. A licensed medical professional should be
consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all
medical emergencies. Links to other sites are provided for information only -- they do not
constitute endorsements of those other sites. © 1997-
A.D.A.M., Inc. Any duplication or distribution of the information contained herein is
strictly prohibited.
Connect with UMMC
Click to Print
Print Preview
© 2011 University of Maryland Medical Center (UMMC). All rights reserved.
UMMC is a member of the University of Maryland Medical System,
22 S. Greene Street, Baltimore, MD 21201. TDD: 1-800-735-2258 or 1.800.492.5538
