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Updated: Aug 6, 2026
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.
Abstract:
Ferredoxin reductase (FDXR)-related mitochondriopathy is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the FDXR gene. The clinical presentation is highly variable, ranging from isolated sensory neuropathies to severe infantile-onset encephalopathy with early demise. Neuroimaging is typically normal. However, oxidative stress in the setting of systemic infection can precipitate severe symptoms with distinct imaging manifestations, including confluent white matter signal abnormality, longitudinally extensive spinal cord lesions, and optic nerve enhancement. We describe a previously healthy and asymptomatic 2-year-old female with genetically confirmed FDXR-related mitochondriopathy who was found to have a distinct pattern of diffusion restriction, rapid parenchymal atrophy, and optic nerve changes following a respiratory illness. Early recognition and management of this rare but potentially devastating entity can help prevent vision loss and improve functional outcomes.
Insights
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.
