Autonomic neuropathy in a patient with adrenomyeloneuropathy.
Adrenomyeloneuropathy (AMN) is a clinical subtype of X-linked adrenoleukodystrophy (ALD). In ALD, the accumulation of very long chain fatty acids (VLCFA) in the nervous system, adrenal cortex, and testes due to impaired degradation of VLCFA is thought to be pathogenic. Demonstration of abnormally high levels of saturated VLCFA is diagnostic of ALD. The symptoms of AMN include spastic paraparesis, impaired vibration sense in the distal legs, urinary disturbances, and mild peripheral neuropathy. About further involvement of the autonomic nervous system, no data are available. We report an AMN patient with clinically suspected and electrophysiologically verified autonomic neuropathy, supporting the hypothesis that neuropathy in AMN is at least partially caused by primary axonal degeneration.
Schulte-Mattler
W J
WJ
Neurologische Klinik und Poliklinik, Martin-Luther-Universität, Halle, Saale, Germany.
Lindner
A
A
Zierz
S
S
D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000503:physiopathology*; D000328:Adult; D001342:Autonomic Nervous System Diseases / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D001369:Axons / Q000473:pathology; D004594:Electrophysiology; D005230:Fatty Acids, Nonesterified / Q000097:blood; D006801:Humans; D008297:Male; D009431:Neural Conduction; D010264:Paraplegia / Q000209:etiology; D012119:Respiration; D012867:Skin / Q000294:innervation
D005230:Fatty Acids, Nonesterified