Adrenoleucodistrofia ligada al X: presentación de tres casos. Importancia del diagnóstico precoz

López Úbeda, Marta ; Arriba Muñoz, Antonio de (Universidad de Zaragoza) ; Ferrer Lozano, Marta ; Labarta Aizpún, José Ignacio (Universidad de Zaragoza) ; García Jiménez, María C. (Universidad de Zaragoza)

Resumen: X-linked adrenoleukodystrophy is the most common peroxisomal disorder. This disease is caused by a defect in the ABCD1 gen. Saturated very long chain fatty acids are accumulated in serum, adrenal cortex and central nervous system white matter. The clinical spectrum is characterized by progressive neurological dysfunction and adrenal insufficiency with a devastating prognosis. We report a first case of X-linked adrenoleukodystrophy with fatal evolution which identified two asymptomatic family members and established a preventive treatment. Although there is no definitive cure, we stress the importance of family study and evaluation of the individual in situation of risk to establish an early preventive treatment and to give in each particular situation suitable professional advice.

Idioma: Español

DOI: 10.5546/aap.2017.e279

Año: 2017

Publicado en: Archivos Argentinos de Pediatria 115, 5 (2017), e279-e281
ISSN: 0325-0075

Factor impacto JCR: 0.405 (2017)

Categ. JCR: PEDIATRICS rank: 118 / 124 = 0.952 (2017) - Q4 - T3

Factor impacto SCIMAGO: 0.184 - Pediatrics, Perinatology and Child Health (Q3)

Tipo y forma: Article (Published version)

Área (Departamento): Área Educación Física y Depor. (Dpto. Fisiatría y Enfermería)
Área (Departamento): Área Pediatría (Dpto. Pediatría Radiol.Med.Fís)