Adrenomyeloneuropathy as a cause of primary adrenal insufficiency and spastic paraparesis

Monika Spurek; Regina Taylor-Gjevre; Stan Van Uum; Hasnain M Khandwala

doi:10.1503/cmaj.1032006

Adrenomyeloneuropathy as a cause of primary adrenal insufficiency and spastic paraparesis

CMAJ. 2004 Oct 26;171(9):1073-7. doi: 10.1503/cmaj.1032006.

Authors

Monika Spurek¹, Regina Taylor-Gjevre, Stan Van Uum, Hasnain M Khandwala

Affiliation

¹ Department of Medicine, University of Saskatchewan, Saskatoon.

Abstract

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.

Publication types

Case Reports
Review

MeSH terms

Addison Disease / diagnosis
Addison Disease / etiology*
Addison Disease / therapy*
Adrenoleukodystrophy / complications*
Adrenoleukodystrophy / diagnosis
Adult
Biopsy, Needle
Combined Modality Therapy
Follow-Up Studies
Humans
Immunohistochemistry
Male
Paraparesis, Spastic / diagnosis
Paraparesis, Spastic / etiology*
Paraparesis, Spastic / therapy*
Risk Assessment
Severity of Illness Index
Treatment Outcome