Work

Neuroimaging in FDXR-related mitochondriopathy

Year: 2026

Type: article

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.

Source: Pediatric Radiology

DOI: 10.1007/s00247-026-06734-8

Authors: Allison Lam, Bryce D. Beutler, Siddhanth S. Hegde, Matthew J. Barkovich, Anthony R. Zamary, Fernando A. Torres

Institutions: Kaiser Permanente Bernard J. Tyson School of Medicine, University of Southern California, University of California, San Francisco, Los Angeles Medical Center

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,190