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Enfermedad de Addison en un niño con adrenoleucodistrofia ligada al cromosoma X / Primary adrenal failure associated to X-linked adrenoleukodystrophy: report of one case
Bustamante E., Carmen; Durán S., Gloria; Martínez A., Alejandro; Escobar H., Raúl; Acuña, Olga; García B., Hernán.
  • Bustamante E., Carmen; Universidad de Antioquia. Escuela de Medicina. CO
  • Durán S., Gloria; Pontificia Universidad Católica de Chile. Escuela de Medicina. División de Pediatría. CL
  • Martínez A., Alejandro; Pontificia Universidad Católica de Chile. Escuela de Medicina. División de Pediatría. CL
  • Escobar H., Raúl; Pontificia Universidad Católica de Chile. Escuela de Medicina. División de Pediatría. CL
  • Acuña, Olga; Pontificia Universidad Católica de Chile. Escuela de Medicina. División de Pediatría. CL
  • García B., Hernán; Pontificia Universidad Católica de Chile. Escuela de Medicina. División de Pediatría. CL
Rev. chil. endocrinol. diabetes ; 3(3): 181-184, jul. 2010. ilus, tab
Article in Spanish | 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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Index: LILACS (Americas) Main subject: Addison Disease / Adrenoleukodystrophy Type of study: Etiology study / Risk factors Limits: Child / Humans / Male Language: Spanish Journal: Rev. chil. endocrinol. diabetes Journal subject: Endocrinology Year: 2010 Type: Article Affiliation country: Chile / Colombia Institution/Affiliation country: Pontificia Universidad Católica de Chile/CL / Universidad de Antioquia/CO

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Index: LILACS (Americas) Main subject: Addison Disease / Adrenoleukodystrophy Type of study: Etiology study / Risk factors Limits: Child / Humans / Male Language: Spanish Journal: Rev. chil. endocrinol. diabetes Journal subject: Endocrinology Year: 2010 Type: Article Affiliation country: Chile / Colombia Institution/Affiliation country: Pontificia Universidad Católica de Chile/CL / Universidad de Antioquia/CO