Male Carrier of X-Linked Adrenal Leukodystrophy Due to 47, XXY Karyotype

JAMA Neurol. 2024 May 1;81(5):549-550. doi: 10.1001/jamaneurol.2024.0061.

Authors

Yu Ni^{1

2}, Chen Liu³, Liang Tan¹

Affiliations

¹ 7T Magnetic Resonance Translational Medicine Research Center, Department of Neurosurgery, Southwest Hospital, Army Medical University (Third Military Medical University), Chongqing, China.
² Department of Nephrology, Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou, China.
³ Department of Radiology, Southwest Hospital, Army Medical University, (Third Military Medical University), Chongqing, China.

PMID: 38436991
DOI: 10.1001/jamaneurol.2024.0061

No abstract available

Plain language summary

This case report studies a 12-year-old boy with a family history of X-linked adrenal leukodystrophy and his 8-year-old younger brother.

Publication types

Case Reports

MeSH terms

ATP Binding Cassette Transporter, Subfamily D, Member 1
Adrenoleukodystrophy* / diagnosis
Adrenoleukodystrophy* / genetics
Heterozygote
Humans
Karyotype
Male

Substances

ABCD1 protein, human
ATP Binding Cassette Transporter, Subfamily D, Member 1