[Adrenoleukodystrophy].
7-year-old boy with adrenoleukodystrophy is presented with the typical clinical picture, biochemical findings and review of the literature. The obligate carrier status of the mother and the asymptomatic adrenoleukodystrophy of the 5-year-old brother are biochemically proved. Therapeutic regime of Lorenzo's oil has been introduced to the young brother, and the question of bone marrow transplantation is discussed.
Kálmánchey
R
R
Semmelweis OTE II, Gyermekklinika, Wien.
Molzer
B
B
Illés
Z
Z
Princzinger
A
A
Sólyom
J
J
D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002648:Child; D004338:Drug Combinations; D004883:Erucic Acids / Q000627:therapeutic use; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D014057:Tomography, X-Ray Computed; D014304:Triolein / Q000627:therapeutic use
D004338:Drug Combinations; D004883:Erucic Acids; C079420:Lorenzo's oil; D014304:Triolein
Adrenoleukodystrophia.