Abstract
X-linked adenoleukodystrophy is a genetic disease that affects the degradation of
very long-chain fatty acids. In male patients, common pictures are the cerebral form
(CALD), myeloneuropathy (AMN), and Addison-only. Objective: To describe the clinical course of affected male patients from South Brazil between
1993 and 2007. Methods: Affected male patients and their maternal lineages were studied from a clinical,
neurological and biochemical standpoint. Results: Eighty-three male patients from 30 families were biochemically evaluated: 51 were
affected. 27/51 (54%) presented the cerebral form; 11/51 had AMN (22%); 5 had Addison-only
(10%), and 8 (16%) were asymptomatic. Between 2002 and 2006, the minimal incidence
was 1:35,000 males in our State (South Brazil). Forty-three affected individuals were
followed for 5.4 ± 3.7 years. Of 10 boys detected at early stages, three developed CALD. These three boys
and another five CALD at baseline were referred to hematopoietic stem cell transplantation.
Seven transplants were carried out, 5 with good clinical evolution after 2.2 years post-transplant. The non-transplanted case was later defined as a stable cerebral
form. Discussion: Among the present families, the observed cases were comparable to the 50% expected
by Mendelian segregation. Based on the natural history, the number of cases that developed
CALD was similar to the expected. Transplants were successful in 70% of cases. The
occurrence of a stable cerebral form pointed to an urgent need for better markers
of active cerebral disease.
Keywords
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Article info
Publication history
Published online: March 09, 2009
Accepted:
February 1,
2009
Received in revised form:
January 30,
2009
Received:
November 3,
2008
Identification
Copyright
© 2009 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
