Evidence map›Paper›PMID 40519381›Full record

ArticleCureus2025

Complement Dysregulation in Infancy: A Case of CD59 Deficiency With Neurological Sequelae.

Fadi Busaleh, Heeba Y Al Kalaf, Nabil Almajhad, Raneem Alhalal, Jana M Alqahtani, Zahra Almuslem, Nouf AlQurashi, Manar A Alhejji, Zainab I Albeladi, Sarah B Alessa

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

Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

10 authors.

Fadi BusalehPediatric, Maternity and Children's Hospital, Al-Ahsa, SAU.
Heeba Y Al KalafPediatric Neurology, Maternity and Children's Hospital, Al-Ahsa, SAU.
Nabil AlmajhadDivision of Neurology, Pediatric Department, Maternity and Children's Hospital, Al-Ahsa, SAU.
Raneem AlhalalMedicine, Vision College, Riyadh, SAU.
Jana M AlqahtaniCollege of Medicine, Vision College, Riyadh, SAU.
Zahra AlmuslemMedicine, Vision College, Riyadh, SAU.
Nouf AlQurashiMedicine, College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, SAU.
Manar A AlhejjiCollege of Medicine, King Faisal University, Al-Ahsa, SAU.
Zainab I AlbeladiCollege of Medicine, King Faisal University, Al-Ahsa, SAU.
Sarah B AlessaCollege of Medicine, Vision College, Riyadh, SAU.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

CD59 deficiency is a rare autosomal recessive disorder causing complement-mediated hemolysis, strokes, and neuropathy. Early recognition is critical to avoid irreversible complications. We report a two-year-old girl, born to consanguineous parents, who presented with recurrent hypotonia, motor regression, ischemic stroke, and Coombs-negative hemolytic anemia. Whole exome sequencing confirmed a homozygous CD59 mutation (c.323C>A; p.Ser108). She was treated with immune-moderating therapy and anticoagulants with a rehabilitation program. Despite therapy, she developed persistent neurological deficits and failure to thrive. CD59 deficiency should be considered in infants with unexplained hypotonia, stroke, and hemolytic anemia. Early diagnosis and complement inhibition may reduce complications.

Indexed as

acute flaccid paralysiscd59 deficiencyimmune hemolytic anemiainfantile hypotoniainfantile strokenon-immune hemolytic anemiaparoxysmal nocturnal hemolytic anemia

Identifiers

PMID40519381
PMCPMC12163959

What OpenQuestion holds

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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.