Adrenoleukodystrophy X. A case report

Authors

  • Oristela Expósito Palmero
  • Isabel Norma Pérez Cruz
  • Silvia Santana Sardañas
  • María Teresa Val Cepero

Abstract

The adrenoleukodystrophy is a hereditary illness tied to the X-chromosome of recessive form caused by a defect in the ABCD1 gene, is a peroxisomal illness which causes accumulation in suero, the adrenal cortex and the white substance of the central system, of fatty acids of long chain. The clinic is characterized by neurological deterioration and adrenal insufficiency. Until now there has not been obtained a treatment that has been demonstrated effectively in the prevention or healing of the neurologic alterations. A patient is presented who fulfills clinical and criteria imaging of this entity.

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Author Biographies

Oristela Expósito Palmero

Especialista de 2do Grado en Pediatría. Máster en Atención Integral al Niño. Profesora Asistente.

Isabel Norma Pérez Cruz

Especialista de 2do Grado en Pediatría. Máster en Atención Integral al Niño. Profesora Consultante. Investigadora Agregada.

Silvia Santana Sardañas

Especialista de 2do Grado en Pediatría. Máster en Atención Integral al Niño. Profesora Asistente.

María Teresa Val Cepero

Especialista de 2do Grado en Pediatría. Máster en Atención Integral al Niño. Profesora Auxiliar.

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Published

2014-12-19

How to Cite

1.
Expósito Palmero O, Pérez Cruz IN, Santana Sardañas S, Val Cepero MT. Adrenoleukodystrophy X. A case report. Mediciego [Internet]. 2014 Dec. 19 [cited 2024 Dec. 22];20(1). Available from: https://revmediciego.sld.cu/index.php/mediciego/article/view/125

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Section

Case Report

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