Early diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison's disease improves survival and neurological outcomes

Lynda E. Polgreen, Saydi Chahla, Weston Miller, Steven Rothman, Jakub Tolar, Teresa Kivisto, David Nascene, Paul J. Orchard, Anna Petryk

Research output: Contribution to journalArticlepeer-review

28 Scopus citations

Abstract

Approximately one third of boys with X-linked adrenoleukodystophy (X-ALD) develop an acute, progressive inflammatory process of the central nervous system, resulting in rapid neurologic deterioration and death. Hematopoietic cell transplantation (HCT) can halt the progression of neurologic disease if performed early in the course of the cerebral form of X-ALD. We describe a retrospective cohort study of 90 boys with X-ALD evaluated at our institution between 2000 and 2009, to determine if early diagnosis of X-ALD following the diagnosis of unexplained adrenal insufficiency (AI) improves outcomes. We describe seven cases with a delay in the diagnosis of X-ALD and compare their outcomes to ten controls with the diagnosis of ALD made within 12 months following diagnosis of AI. At the time of evaluation for HCT, boys with a delay in the diagnosis of X-ALD had more extensive cerebral involvement and more limited functioning. These boys also were 3.9 times more likely to die and had significant advancement of cerebral disease after HCT, compared with boys with a timely diagnosis of X-ALD. In conclusion, the early diagnosis of cerebral X-ALD following the diagnosis of unexplained AI, and subsequent treatment with HCT improves both neurological outcomes and survival in boys with cerebral X-ALD.

Original languageEnglish (US)
Pages (from-to)1049-1054
Number of pages6
JournalEuropean Journal of Pediatrics
Volume170
Issue number8
DOIs
StatePublished - Aug 2011

Bibliographical note

Funding Information:
Acknowledgments This work was partially funded by the Children’s Cancer Research Fund, Minneapolis, MN (J.T., P.O.), NIH 5K12RR023247-05 (L.P.), and the Minnesota Medical Foundation (J.T.). Acknowledgement goes to Dr. William Krivit and Dr. Hugo Moser for their pioneering work in the field of ALD, and Dr. Lawrence Charnas for his helpful comments.

Keywords

  • Addison's disease
  • Adrenal insufficiency
  • Adrenoleukodystrophy
  • Hematopoietic cell transplantation

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