Multiple sclerosis-like syndrome in a woman heterozygous for adrenoleukodystrophy.
A 28-year-old asymptomatic woman was diagnosed to be heterozygous for adrenoleukodystrophy (ALD) by elevated very long-chain fatty acids in serum and fibroblasts after ADL had been diagnosed in her son. A year later she had transient unilateral blurred vision. Evoked potentials and brain magnetic resonance imaging showed further separate cerebral white matter lesions suggesting multiple sclerosis (MS). MS-like syndromes in women heterozygous for ALD may be more frequent than previously recognized.
Stöckler
S
S
Department of Pediatrics, University of Graz, Austria.
Millner
M
M
Molzer
B
B
Ebner
F
F
Körner
E
E
Moser
H W
HW
D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D003937:Diagnosis, Differential; D005071:Evoked Potentials; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D009103:Multiple Sclerosis / Q000175:diagnosis*
D005227:Fatty Acids