Evidence map›Paper›PMID 42220938›Full record

ArticleWorld journal of clinical pediatrics2026

Prolonged survival in Menkes disease with a novel

Yusuf Hadi, Nader Khawaja, Hadhami Ben Turkia, Minoosh Nasef, Sarra Baili

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

Article in World journal of clinical pediatrics, 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

5 authors.

Yusuf HadiDepartment of Pediatrics, King Hamad University Hospital, Muharraq 24343, Bahrain. yousif401@hotmail.com.
Nader KhawajaDepartment of Internal Medicine, King Hamad University Hospital, Muharraq 24343, Bahrain.
Hadhami Ben TurkiaDepartment of Pediatrics, King Hamad University Hospital, Muharraq 24343, Bahrain.
Minoosh NasefDepartment of Pediatrics, King Hamad University Hospital, Muharraq 24343, Bahrain.
Sarra BailiDentistry, Nizhny Novgorod State Medical University, Nizhny Novgorod 603950, Russia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMenkes disease (MD) is an uncommon, X-linked recessive neurodegenerative disorder caused by mutations in the copper-transporting CASE SUMMARY: We report a 45-day old male infant presenting with focal seizures and hypotonia. Fair, redundant skin and abnormal hair pigmentation was noted. Neuroimaging revealed classical MD findings like subdural hematoma and arterial tortuosity. In addition, cortical laminar necrosis and craniosynostosis were observed. Diagnostic work-up revealed low serum copper and ceruloplasmin levels with high dopamine levels. Eventually, a novel splice-site mutation in the

conclusionThis case illustrates an intermediate phenotype which could be influenced by the new

Indexed as

ATP7A geneBladder diverticulaCase reportConnective tissueCopperMenkes diseasePseudoaneurysmSeizures

Identifiers

PMID42220938
PMCPMC13217188

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.