Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy.

Details

Serval ID
serval:BIB_269765BF2994
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy.
Journal
Pediatric neurology
Author(s)
Tran C., Hewson S., Steinberg S.J., Mercimek-Mahmutoglu S.
ISSN
1873-5150 (Electronic)
ISSN-L
0887-8994
Publication state
Published
Issued date
08/2014
Peer-reviewed
Oui
Volume
51
Number
2
Pages
262-265
Language
english
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Abstract
Zellweger spectrum disorder is an autosomal recessively inherited multisystem disorder caused by one of the 13 different PEX gene defects resulting in defective peroxisomal assembly and multiple peroxisomal enzyme deficiencies. We report a new patient with late-onset Zellweger spectrum disorder mimicking X-linked adrenoleukodystrophy.
This 8.5-year-old boy with normal development until 6.5 years of age presented with bilateral sensorineural hearing loss during a school hearing test. He then developed acute-onset diplopia, clumsiness, and cognitive dysfunction at age 7 years. Magnetic resonance imaging of the brain revealed symmetric leukodystrophy, although without gadolinium enhancement. Elevated plasma very long chain fatty acid levels were suggestive of X-linked adrenoleukodystrophy, but his ABCD1 gene had normal coding sequence and dosage. Additional studies of cultured skin fibroblasts were consistent with Zellweger spectrum disorder. Molecular testing identified disease-causing compound heterozygous mutations in the PEX6 gene supporting the Zellweger spectrum disorder diagnosis in this patient.
We describe a new patient with late-onset Zellweger spectrum disorder caused by PEX6 mutations who presented with an acute neurodegenerative disease course mimicking X-linked adrenoleukodystrophy. This finding provides an additional reason that molecular confirmation is important for the genetic counseling and management of patients with a clinical and biochemical diagnosis of X-linked adrenoleukodystrophy.

Keywords
Adenosine Triphosphatases/genetics, Adrenoleukodystrophy/diagnosis, Age of Onset, Child, Diagnosis, Differential, Humans, Male, Mutation, Zellweger Syndrome/diagnosis, Zellweger Syndrome/genetics, PEX6 gene, X-linked adrenoleukodystrophy, Zellweger spectrum disorder, late onset, peroxisome biogenesis disorder
Pubmed
Web of science
Create date
15/10/2017 12:50
Last modification date
20/08/2019 13:05
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