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.
Korenke
G C
GC
Department of Paediatrics and Neuropaediatrics, University of Göttingen, Germany.
Pouwels
P J
PJ
Frahm
J
J
Hunneman
D H
DH
Stoeckler
S
S
Krasemann
E
E
Jost
W
W
Hanefeld
F
F
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