Evidence map›Paper›PMID 39119967›Full record

ArticleImmunity, inflammation and disease2024

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations in conjunction with systemic lupus erythematosus: Missed diagnosis or misdiagnosis?

Xinhui Wang, Li Su, Jinming Han, Yilai Han, Yunsi Yin, Jiancheng Huang, Yi Tang, Yi Zhao, Qi Qin

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Immunity, inflammation and disease, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Article
  2. First case ofFrontiers in immunology · 2026
    Article
  3. Article
  4. Review
  5. Article
  6. Review
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

9 authors.

Xinhui WangDepartment of Geriatrics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.ORCID 0009-0009-8502-1145
Li SuDepartment of Rheumatology and Allergy, Xuanwu Hospital, Capital Medical University, Beijing, China.
Jinming HanDepartment of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
Yilai HanDepartment of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
Yunsi YinInnovation Center for Neurological Disorders, Department of Neurology, Xuanwu Hospital, Capital Medical University, National Center for Neurological Disorders, Beijing, China.
Jiancheng HuangInternational School, Capital Medical University, Beijing, China.
Yi TangInnovation Center for Neurological Disorders, Department of Neurology, Xuanwu Hospital, Capital Medical University, National Center for Neurological Disorders, Beijing, China.
Yi ZhaoDepartment of Rheumatology and Allergy, Xuanwu Hospital, Capital Medical University, Beijing, China.
Qi QinInnovation Center for Neurological Disorders, Department of Neurology, Xuanwu Hospital, Capital Medical University, National Center for Neurological Disorders, Beijing, China.

Funding

Beijing Hospitals Authority Innovation Studio of Young Staff Funding Support 202118The Beijing Nova Program Z211100002121051The National Key R&D Program of China 2017YFE0118800The National Natural Science Foundation of China 82201568The Young Elite Scientists Sponsorship Program by CAST 2021QNRC001
6 · The paper itself

Abstract

backgroundRetinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare autosomal dominant systemic microvascular disorder attributed to TREX1 (three-prime repair exonuclease-1) gene mutations, often proned to misdiagnosed.

methodsWe reported a case of RVCL-S coexisting with systemic lupus erythematosus due to a mutation in the TREX1 gene. This study provided a summary and discussion of previously documented cases related to TREX1 mutations or RVCL-S.

resultsA 39-year-old female patient visited the clinic due to progressive memory loss and speech difficulties. Magnetic resonance imaging results showed corpus callosum atrophy and multiple subcortical calcifications in both brain hemispheres. Genetic testing revealed a TREX1 gene mutation (c.294dupA). Treatment with immunosuppressive therapy for 2 months led to improvements in communication and mobility. We also summarized previously reported cases providing an overview of TREX1 gene mutation or RCVL-S.

conclusionOur case establishes a compelling foundation for future RVCL-S diagnosis and treatment paradigms. Notably, conducting systemic immunity screening in patients with RVCL-S emerges as a strategic approach to prevent potential diagnostic oversights.

Indexed as

ExodeoxyribonucleasesLeukoencephalopathiesLupus Erythematosus, SystemicMutationAdultDiagnostic ErrorsFemaleHereditary Central Nervous System Demyelinating DiseasesHumansMagnetic Resonance ImagingPhosphoproteinsRetinal DiseasesRetinal VasculitisVascular DiseasesExodeoxyribonucleasesPhosphoproteinsthree prime repair exonuclease 1case reportcorpus callosum atrophyRVCL‐STREX1 (three‐prime repair exonuclease‐1)

Identifiers

PMID39119967
PMCPMC11310852

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Registered trials

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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.