Format

Send to

Choose Destination
See comment in PubMed Commons below
Singapore Med J. 1994 Dec;35(6):643-5.

An index case of adrenomyeloneuropathy in a Chinese man.

Author information

1
Department of Medicine, National University Hospital, Singapore.

Abstract

X-linked adrenomyeloneuropathy (AMN) is a phenotypic variant of adrenoleukodystrophy (ADL) presenting in early adult life with progressive ataxia and spasticity, and on occasion with adrenal insufficiency. We describe a 26-year-old Chinese man with a 2-year history of gait difficulty due to spasticity, absent pattern shift visual evoked (VER) responses and posterior white matter lesions on T2 weighted brain magnetic resonance images. His parents are clinically normal and his 24-year-old brother has hyperreflexia in the legs but normal VER latencies. The patient's ACTH levels were elevated and the serum cortisol did not rise with either Synacthen or corticotropin releasing hormone. Assay of his plasma confirmed elevation of very long chain fatty acids (VLCFA) consistent with a defect in peroxisomal VLCFA metabolism. This is the first local report of a patient with AMN.

PMID:
7761896
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Support Center