Affordable Access

New form of adrenoleukodystrophy.

Authors
Type
Published Article
Journal
Human genetics
Publication Date
Volume
58
Issue
2
Pages
204–208
Identifiers
PMID: 7287005
Source
Medline

Abstract

Male and female siblings demonstrated similar facial features and had seizures from birth. Neurologic development, which was delayed, began to deteriorate at 1 year. Sudden death occurred at 2 8/12 and 2 3/12 years of age associated with respiratory infections. Tanning of the skin was noted 2 months before death in the first child. In the second child, blood cortisol levels failed to increase after intravenous ACTH administration, and computerized axial tomography (CAT) scans were normal. At autopsy both patients demonstrated adrenal atrophy and degenerative changes of the white matter throughout the neuraxis. We propose that these siblings have a new form of adrenoleukodystrophy that can be distinguished from the X-linked form by onset at birth, clinical appearance, and pattern of inheritance. A comparison of these cases with a second disorder, Zellweger's syndrome, suggests that a distinctive phenotype is associated with intrauterine degeneration of white matter.

There are no comments yet on this publication. Be the first to share your thoughts.

Statistics

Seen <100 times
0 Comments