Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency
Fetuses with PDCD have similar brain MRI findings to neonates described in the literature, although some of these findings are subtle early in pregnancy. Additional features, such as cystic lesions of the GEs, are noted in the second trimester in fetuses with PDCD. These may represent an early diagnostic marker of PDCD, although more data are needed to validate this association. Early diagnosis of PDCD using fetal MRI may inform genetic counseling, pregnancy decision making, and neonatal care planning.
Authors
- Kelsey Christoffel (ORCID: https://orcid.org/0000-0001-6719-4135)
- Kate Cilli (ORCID: https://orcid.org/0000-0002-0983-5384)
- Rebecca D. Ganetzky (ORCID: https://orcid.org/0000-0001-6238-8109)
- Cesar Alves (ORCID: https://orcid.org/0000-0001-5877-9086)
- Charu Venkatesan (ORCID: https://orcid.org/0000-0002-8763-4836)
- Olivier Fortin (ORCID: https://orcid.org/0000-0002-9349-0592)
- Jamie L. Fraser (ORCID: https://orcid.org/0000-0002-7794-8903)
- Abdullah B. Shoaib (ORCID: https://orcid.org/0000-0003-3461-8784)
- Jason W. Schroeder
Institutions
- Research Institute of Radiology (BY)
Publication Details
- Journal
- Neurology
- Published
- 2024-08-05
- DOI
- https://doi.org/10.1212/wnl.0000000000209728
- Citations
- 11
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 4.19