Enfermedad de Addison en un niño con adrenoleucodistrofia ligada al cromosoma X / Primary adrenal failure associated to X-linked adrenoleukodystrophy: report of one case
Rev. chil. endocrinol. diabetes
; 3(3): 181-184, jul. 2010. ilus, tab
Article
en Es
| LILACS
| ID: lil-610315
Biblioteca responsable:
CL1.1
ABSTRACT
Primary adrenal failure (PAF) can be congenital or acquired. X-linked adrenoleukodystrophy (ALD-X), produced by the mutation of the ABDC1 gene (Xq28), that leads to the plasma accumulation of very long chain fatty acids, is one of the congenital diseases associated to adrenal destruction. We report a 7 years old boy with fast progression of right strabismus and general symptoms as weariness, weakness and mucosal and skin pigmentation. A brain magnetic resonance image showed a leukoencephalopathy, characteristic of ALD-X. Low plasma cortisol, high ACTH levels and lack of response to ACTH test, confirmed the diagnosis of primary adrenal insufficiency. High plasma levels of C260 fatty acids, and C24/22, C26/22 ratios confirmed ALD-X.
Palabras clave
Buscar en Google
Colección:
01-internacional
Base de datos:
LILACS
Asunto principal:
Enfermedad de Addison
/
Adrenoleucodistrofia
Tipo de estudio:
Etiology_studies
/
Risk_factors_studies
Límite:
Child
/
Humans
/
Male
Idioma:
Es
Revista:
Rev. chil. endocrinol. diabetes
Asunto de la revista:
ENDOCRINOLOGIA
Año:
2010
Tipo del documento:
Article
País de afiliación:
Chile
/
Colombia
Pais de publicación:
Chile