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
Artigo
em Espanhol
| LILACS
| ID: lil-610315
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.
Buscar no Google
Índice:
LILACS (Américas)
Assunto principal:
Doença de Addison
/
Adrenoleucodistrofia
Tipo de estudo:
Estudo de etiologia
/
Fatores de risco
Limite:
Criança
/
Humanos
/
Masculino
Idioma:
Espanhol
Revista:
Rev. chil. endocrinol. diabetes
Assunto da revista:
Endocrinologia
Ano de publicação:
2010
Tipo de documento:
Artigo
País de afiliação:
Chile
/
Colômbia
Instituição/País de afiliação:
Pontificia Universidad Católica de Chile/CL
/
Universidad de Antioquia/CO
Similares
MEDLINE
...
LILACS
LIS