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Updated: Aug 6, 2026
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Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
Neuroimaging in FDXR-related mitochondriopathy
Allison Lam1, Bryce D Beutler2, Siddhanth S Hegde1
1Kaiser Permanente Bernard J. Tyson School of Medicine, Los Angeles, CA, USA.
Pediatric Radiology
|July 22, 2026
Summary
Ferredoxin reductase (FDXR)-related mitochondriopathy is a rare genetic disorder. Systemic infections can trigger severe neurological symptoms and distinct brain imaging findings in affected children.
Area of Science:
- Genetics
- Neurology
- Mitochondrial Diseases
Background:
- Ferredoxin reductase (FDXR)-related mitochondriopathy is a rare autosomal recessive disorder.
- Caused by pathogenic variants in the FDXR gene, it presents with variable clinical manifestations.
- Typically, neuroimaging is normal, but severe symptoms can arise during systemic infections.
Purpose of the Study:
- To describe a case of FDXR-related mitochondriopathy with distinct neuroimaging findings following a respiratory illness.
- To highlight the importance of early recognition and management to prevent vision loss and improve outcomes.
Main Methods:
- Case report of a 2-year-old female with genetically confirmed FDXR-related mitochondriopathy.
- Detailed clinical and neuroimaging analysis, including diffusion restriction, parenchymal atrophy, and optic nerve changes.
Main Results:
- The patient developed distinct diffusion restriction, rapid parenchymal atrophy, and optic nerve changes after a respiratory illness.
- These findings represent a specific pattern of central nervous system involvement in FDXR-related mitochondriopathy precipitated by infection.
Conclusions:
- FDXR-related mitochondriopathy can present with severe neurological complications and characteristic imaging findings following systemic infections.
- Early diagnosis and intervention are crucial for managing this rare condition and improving patient outcomes, particularly regarding vision preservation.
