Evidence map›Paper›PMID 40585469›Full record

ArticleOxford medical case reports2025

Rare presentation of dandy-walker variant syndrome associated with leigh syndrome: a promising therapeutic approach for prognosis in children related in a case report.

Bianca Frigo Pires, Graziele Ines Silva Lopo, Anaí Ramoa Siqueira, Luiza Resende Felisberto, Rafaella Simão Martini, Ana Beatriz Valim Alves, Amanda Carolina Rodrigues Silva, Flávia Xavier Lima Carvalho, Aline Pirola Aliseda, Mariane Martinhon Martins and 3 more

Abstract readCase Reports
In one paragraph

Article in Oxford medical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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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

13 authors.

Bianca Frigo PiresDepartment of pediatrics, Hospital das Clinicas de Marília, R. Orlando Riguetti, - São Paulo, Marília 227, Brazil.ORCID https://orcid.org/0009-0003-5742-9836
Graziele Ines Silva LopoDepartment of pediatrics, Hospital das Clinicas de Marília, R. Orlando Riguetti, - São Paulo, Marília 227, Brazil.ORCID https://orcid.org/0009-0006-2305-3270
Anaí Ramoa SiqueiraDepartment of pediatrics, Hospital das Clinicas de Marília, R. Orlando Riguetti, - São Paulo, Marília 227, Brazil.ORCID https://orcid.org/0009-0005-8617-5315
Luiza Resende FelisbertoDepartment of pediatrics, Hospital das Clinicas de Marília, R. Orlando Riguetti, - São Paulo, Marília 227, Brazil.ORCID https://orcid.org/0009-0008-0597-1494
Rafaella Simão MartiniDepartment of pediatrics, Hospital das Clinicas de Marília, R. Orlando Riguetti, - São Paulo, Marília 227, Brazil.ORCID https://orcid.org/0009-0005-1964-1792
Ana Beatriz Valim AlvesDepartment of pediatrics, Hospital das Clinicas de Marília, R. Orlando Riguetti, - São Paulo, Marília 227, Brazil.ORCID https://orcid.org/0009-0001-9425-0937
Amanda Carolina Rodrigues SilvaDepartment of pediatrics, Hospital das Clinicas de Marília, R. Orlando Riguetti, - São Paulo, Marília 227, Brazil.ORCID https://orcid.org/0009-0001-4879-6963
Flávia Xavier Lima CarvalhoDepartment of pediatrics, Hospital das Clinicas de Marília, R. Orlando Riguetti, - São Paulo, Marília 227, Brazil.ORCID https://orcid.org/0009-0007-0926-6795
Aline Pirola AlisedaDepartment of pediatrics, Hospital das Clinicas de Marília, R. Orlando Riguetti, - São Paulo, Marília 227, Brazil.ORCID https://orcid.org/0009-0007-6980-9114
Mariane Martinhon MartinsDepartment of pediatrics, Hospital das Clinicas de Marília, R. Orlando Riguetti, - São Paulo, Marília 227, Brazil.ORCID https://orcid.org/0009-0001-8548-9815
Carla Kreuzberg SalgadoDepartment of pediatrics, Hospital das Clinicas de Marília, R. Orlando Riguetti, - São Paulo, Marília 227, Brazil.ORCID https://orcid.org/0009-0005-5273-6874
Salum Bueno da Silveira JuniorDepartment of pediatrics, Hospital das Clinicas de Marília, R. Orlando Riguetti, - São Paulo, Marília 227, Brazil.ORCID https://orcid.org/0000-0002-0652-6586
Camila Garcia Ferrari JacobDepartment of pediatrics, Hospital das Clinicas de Marília, R. Orlando Riguetti, - São Paulo, Marília 227, Brazil.ORCID https://orcid.org/0000-0001-9345-0630

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionDandy-Walker syndrome (D-WS) is a rare congenital brain anomaly that primarily impacts the fourth ventricle and cerebellum. Its variant is even rarer and includes cerebellar dysgenesis, with possible posterior fossa enlargement and variable cerebellar vermis hypoplasia. CASE REPORT: We present the case of a patient diagnosed late with the Dandy-Walker Syndrome variant, associated with Leigh Syndrome, at a tertiary hospital. The patient received an optimized, multidisciplinary treatment approach to improve prognosis. DISCUSSION: Early intervention in pediatric neurodegenerative diseases through a multidisciplinary team that includes medical, speech therapy, and physiotherapy support is crucial for a better prognosis in these cases.

Indexed as

dandy-walker variantleigh syndromepediatric syndrome

Identifiers

PMID40585469
PMCPMC12202306

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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.