[Cerebral adrenomyeloneuropathy as a late type of adrenoleukodystrophy: case report].
Adrenoleukodystrophy (ALD) is a hereditary disease related to abnormalities in the structure and function of peroxisomes. The nature of disorder arises from defective process of beta-oxidation of very-long-chain fatty acids and their accumulation in various organs. ALD may present as a few phenotypes urologic symptomatology of which depends on proportions of the brain, spinal cord and peripheral nerves affection. Below, we present a case (and its family) of a cerebral type of adrenomyeloneuropathy--a rare form of adrenoleukodystrophy, and discuss its clinical manifestation as well as biochemical, hormonal, electrophysiological, neuropsychological and magnetic resonance imaging (MRI) diagnostics.
Siger-Zajdel
M
M
Katedry i Kliniki Neurologii Akademii Medycznej w Lodzi.
Stradomska
T J
TJ
Rozniecki
J
J
Zielińska
M
M
Selmaj
K
K
D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000378:metabolism* / Q000473:pathology*; D000328:Adult; D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D002845:Chromatography; D003704:Dementia / Q000175:diagnosis; D005227:Fatty Acids / Q000378:metabolism*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009483:Neuropsychological Tests; D020675:Peroxisomes / Q000378:metabolism*; D012720:Severity of Illness Index
D005227:Fatty Acids