Case Report: Incidental diagnosis of cystic fibrosis via whole genome sequencing alters HSCT planning in a child with cerebral X-linked adrenoleukodystrophy

Case Report: Incidental diagnosis of cystic fibrosis via whole genome sequencing alters HSCT planning in a child with cerebral X-linked adrenoleukodystrophy

Cerebral X-linked adrenoleukodystrophy (cALD) is an X-linked peroxisomal disorder caused by pathogenic variation in the ABCD1 gene, characterized by progressive central nervous system demyelination leading to severe neurocognitive decline, as well as concomitant adrenal insufficiency resulting from...

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Bibliographic Details
Main Authors: Jann Adriel Chua Sy, Poh Lin Tan, Jeremy Bingyuan Lin, Stacey Kiat-Hong Tay, Hui-Lin Chin
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Pediatrics
Subjects:
cerebral X-linked adrenoleukodystrophy
haematopoietic stem cell transplantation
cystic fibrosis
whole genome sequencing
incidental findings
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1650645/full
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https://www.frontiersin.org/articles/10.3389/fped.2025.1650645/full

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