Arrested cerebral adrenoleukodystrophy: A clinical and proton magnetic resonance spectroscopy study in three patients

G. Christoph Korenke*, Petra J.W. Pouwels, Jens Frahm, Donald H. Hunneman, Sylvia Stoeckler, Ernst Krasemann, Wolfram Jost, Folker Hanefeld

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

We report three unrelated boys with X-linked adrenoleukodystrophy with onset of typical neurological symptoms of cerebral adrenoleukodystrophy between the age of 7 and 11 years. In contrast to the expected rapid progression, these patients showed an apparent arrest of initial neurological deterioration for subsequent periods of 5-12 years. Repeated neuroimaging revealed no progression of demyelination. Despite regional variability of demyelination, proton magnetic resonance spectroscopy revealed a specific metabolic pattern in all patients, with only moderate reduction of N- acetylaspartate, normal or reduced choline-containing compounds, normal or enhanced myo-inositol and no detectable lactate, which differs from findings in progressive cerebral adrenoleukodystrophy which usually exhibits a severe reduction of N-acetylaspartate and marked increases of choline-containing compounds, myo-inositol, and lactate. The ability to identify this newly described subgroup of patients with cerebral adrenoleukodystrophy is important for medical advice and planning of therapy.

Original languageEnglish
Pages (from-to)103-107
Number of pages5
JournalPediatric Neurology
Volume15
Issue number2
DOIs
Publication statusPublished - 1 Jan 1996
Externally publishedYes

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