Arrested cerebral adrenoleukodystrophy: a clinical and proton magnetic resonance spectroscopy study in three patients.
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.
Department of Paediatrics and Neuropaediatrics, University of Göttingen, Germany.
G C
GC
Korenke
P J
PJ
Pouwels
J
J
Frahm
D H
DH
Hunneman
S
S
Stoeckler
E
E
Krasemann
W
W
Jost
F
F
Hanefeld
D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001921:Brain / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002794:Choline / Q000378:metabolism; D003711:Demyelinating Diseases / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D007294:Inositol / Q000378:metabolism; D019344:Lactic Acid / Q000378:metabolism; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D018901:Peroxisomal Disorders / Q000175:diagnosis / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome
D001224:Aspartic Acid; D019344:Lactic Acid; D007294:Inositol; C000179:N-acetylaspartate; D002794:Choline