[Adrenoleukodystrophy in a pair of siblings].
The diagnosis of adrenoleukodystrophy (ALD) in two brothers was confirmed by the analysis of long-chain fatty acids in cultured skin fibroblasts. The 23 year old brother was treated for Addison's disease at the age of 7 years. His first symptoms of ALD developed at the age of 22. These were lack of concentration and compulsive disorder. The younger brother was noted to show behavioural changes and a decreased performance at school at age 9. The disease then progressed rapidly. Variability and diagnostic procedures are discussed in this report.
Rosskamp
R
R
Fichsel
H
H
Röder
B
B
Conzelmann
E
E
Hinrichs
U
U
D000224:Addison Disease / Q000235:genetics; D000324:Adrenocorticotropic Hormone; D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D002648:Child; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D004569:Electroencephalography; D005071:Evoked Potentials; D005227:Fatty Acids / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D008297:Male; D019965:Neurocognitive Disorders / Q000235:genetics; D014057:Tomography, X-Ray Computed
D005227:Fatty Acids; D000324:Adrenocorticotropic Hormone; D006854:Hydrocortisone
Adrenoleukodystrophie bei einem Geschwisterpaar.