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
Dans Espagnol
| 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.
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Indice:
LILAS (Amériques)
Sujet Principal:
Maladie d'Addison
/
Adrénoleucodystrophie
Type d'étude:
Etude d'étiologie
/
Facteurs de risque
Limites du sujet:
Enfant
/
Humains
/
Mâle
langue:
Espagnol
Texte intégral:
Rev. chil. endocrinol. diabetes
Thème du journal:
Endocrinologie
Année:
2010
Type:
Article
Pays d'affiliation:
Chili
/
Colombie
Institution/Pays d'affiliation:
Pontificia Universidad Católica de Chile/CL
/
Universidad de Antioquia/CO
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