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Beware of missed diagnosis in patients with multiple genetic diseases: a case report.

Authors :
Guo D
Li X
Liu N
Yu X
Shu J
Sheng W
Li D
Cai C
Source :
BMC pediatrics [BMC Pediatr] 2022 Jul 20; Vol. 22 (1), pp. 436. Date of Electronic Publication: 2022 Jul 20.
Publication Year :
2022

Abstract

Background: Duchenne muscular dystrophy (DMD) is an X-linked recessive inherited disorder caused by the absence of the Dystrophin protein. Cerebral cavernous malformations (CCMs) are the most common vascular abnormalities in the central nervous system caused by the absence of the products of the CCM genes. Most CCMs cases reported occurring in a sporadic form are often asymptomatic.<br />Case Presentation: We report a rare case of a 7-year-old Chinese boy with a co-existing DMD and sporadic CCMs. We found classic clinical features of DMD and non-specific pathological changes in his brain. We made the definitive diagnosis based on the results of whole-exome sequencing (WES), a repeat from exon 3 to exon 9 of the DMD inherited from his mother, and a de novo heterozygote nonsense mutation C.418G > T of the PDCD10 exon 6.<br />Conclusion: We should take care to avoid missed diagnoses in patients with multiple genetic disorders.<br /> (© 2022. The Author(s).)

Details

Language :
English
ISSN :
1471-2431
Volume :
22
Issue :
1
Database :
MEDLINE
Journal :
BMC pediatrics
Publication Type :
Academic Journal
Accession number :
35858850
Full Text :
https://doi.org/10.1186/s12887-022-03490-0