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Adrenoleucodistrofia - Symptom

Nombres alternativos

Adrenoleucodistrofia; Adrenomieloneuropatía; Adrenoleucodistrofia cerebral infantil; ALD; Complejo de Schilder-Addison

Síntomas:

Tipo cerebral infantil:

Cambios en el tono muscular, principalmente espasmos musculares y espasticidad
Estrabismo (ojos bizcos)
Disminución en la comprensión de la comunicación verbal (afasia)
Deterioro de la escritura a mano
Dificultad en la escuela
Dificultad para entender la información oral
Hipoacusia
Hiperactividad
Deterioro progresivo del sistema nervioso
- coma
- disminución del control motor fino
- parálisis
Convulsiones
Dificultad para deglutir
Deterioro visual o ceguera

Adrenomielopatía:

Dificultad para controlar la micción
Posible empeoramiento de la debilidad muscular o rigidez en las piernas
Problemas con la velocidad de pensamiento y memoria visual

Insuficiencia suprarrenal (tipo Addison):

Coma
Inapetencia
Aumento del color de la piel (pigmentación)
Pérdida de peso y de masa muscular (atrofia)
Debilidad muscular
Vómitos

Pruebas y exámenes:

Niveles sanguíneos
Estudio cromosómico que busca cambios (mutaciones) en el gen ABCD1
Resonancia magnética de la cabeza

Adrenoleucodistrofia neonatal

Reviewed last on: 11/2/2009
Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Johnston MV. Neurodegenerative disorders of childhood. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 599.

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