Neuroimaging in FDXR-related mitochondriopathy.

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

Abstract readCase Reports

In one paragraph

Article in Pediatric radiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Allison LamKaiser Permanente Bernard J. Tyson School of Medicine, Los Angeles, CA, USA.

Bryce D BeutlerDepartment of Radiology, University of Southern California, Keck School of Medicine, 1500 San Pablo Street, 2nd Floor, Los Angeles, CA, 90033, USA. Bryce.Beutler@med.usc.edu.

Siddhanth S HegdeKaiser Permanente Bernard J. Tyson School of Medicine, Los Angeles, CA, USA.

Matthew J BarkovichDepartment of Radiology, University of California, San Francisco, San Francisco, CA, USA.

Anthony R ZamaryKaiser Permanente Bernard J. Tyson School of Medicine, Los Angeles, CA, USA.

Fernando A TorresKaiser Permanente Bernard J. Tyson School of Medicine, Los Angeles, CA, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Magnetic Resonance ImagingMitochondrial DiseasesNeuroimagingChild, PreschoolDiagnosis, DifferentialFemaleHumansAtrophyChildFerredoxinsNeuroimagingOptic nerveOxidative stressOxidoreductasesPreschoolWhite matter

Identifiers

PMID42484718

DOI10.1007/s00247-026-06734-8

PMCPMC13668887

What OpenQuestion holds

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.