Evidence map›Paper›PMID 41255665›Full record

ArticleWorld journal of clinical pediatrics2025

Atypical case of Rett syndrome with concurrent

Imad Fadl-Elmula, Sara Y Abdel-Raheem, Rayan Khalid

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

Article in World journal of clinical pediatrics, 2025. 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

3 authors.

Imad Fadl-ElmulaDepartment of Clinical Genetics, Al Neelain Stem Cell Center, Al Neelain University, Khartoum 11121, Sudan.
Sara Y Abdel-RaheemDepartment of Pediatrics, Soba Teaching Hospital, Khartoum 11121, Sudan.
Rayan KhalidDepartment of Clinical Genetics and Immunology, Assafa College, Khartoum 11121, Sudan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundRett syndrome is a monogenic X-linked dominant condition that affects 1/(10000-15000) girls due to de novo mutations in the methyl-CpG binding protein 2 ( CASE SUMMARY: In this study, we report an unusual and rare clinical presentation of Rett syndrome in a 12-year-old Sudanese girl. The patient was brought in by her parents, complaining of gradual onset of abnormal walking, abnormal hand movement, loss of speech, and mental retardation for ten years. There was no reported history of convulsions or loss of consciousness. Clinical examination revealed microcephaly with no other apparent dysmorphic features, intact cranial nerves, and abnormal gait. She showed repetitive and stereotyped behaviors, including hand flapping, stimming, and chest pounding, which were concomitant with autism spectrum disorder. Magnetic resonance imaging and electroencephalography investigations were normal, and cytogenetic analysis showed 46,XX, del(15)(q22qter). Further molecular analysis using whole sequencing of

conclusionThis case, the first reported instance of Rett syndrome in Sudan, is of significant interest. The patient carries both the

Indexed as

Atypical presentationAutism spectrum disorderCase reportChromosomal analysisMethyl-CpG-binding protein two gene mutation, Chromosome 15 deletionRett syndrome

Identifiers

PMID41255665
PMCPMC12620861

What Socratic holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

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 Socratic graph.