Adrenomyeloneuropathy as a cause of primary adrenal insufficiency and spastic paraparesis.
Adrenomyeloneuropathy is a varient of adrenoleukodystrophy, both of which are rare inherited disorders of peroxisomes characterized by the accumulation of very-long-chain fatty acids in plasma, the central and peripheral nervous systems, adrenal glands and testes, which leads to dysfunction of these organs and systems. In this article, we describe an illustrative case of adrenomyeloneuropathy and discuss the clinical presentation, diagnosis and management of the 2 disorders.
Spurek
Monika
M
Department of Medicine, University of Saskatchewan, Saskatoon.
Taylor-Gjevre
Regina
R
Van Uum
Stan
S
Khandwala
Hasnain M
HM
D000224:Addison Disease / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy*; D000326:Adrenoleukodystrophy / Q000150:complications* / Q000175:diagnosis; D000328:Adult; D001707:Biopsy, Needle; D003131:Combined Modality Therapy; D005500:Follow-Up Studies; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D020336:Paraparesis, Spastic / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy*; D018570:Risk Assessment; D012720:Severity of Illness Index; D016896:Treatment Outcome