Adrenoleukodystrophy. Report of a case with extremely slow progression of symptoms.
Adrenoleukodystrophy (ALD) is a sex-linked disorder characterized by very long chain fatty acid accumulation in different tissues, but mainly in the adrenal cortex, gonads and nervous system. The typical symptoms are hypoadrenalism, hypogonadism and central and peripheral nervous system impairment due to demyelination. On neurological grounds visual and hearing loss associated with quadriparesis are the most common symptoms, onset in childhood and a rapidly progressive course leading to a vegetative state and death. We report the case of a 31-year-old man affected by ALD, whose neurological symptoms started at the age of 12 and showed a markedly slow progression during the following years.
Cavaletti
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Clinica Neurologica V, Università di Milano, Monza.
Bogliun
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Tredici
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G
D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000503:physiopathology*; D000328:Adult; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000503:physiopathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male