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

**Authors:** 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, Carla Kreuzberg Salgado, Salum Bueno da Silveira Junior, Camila Garcia Ferrari Jacob

PMC · DOI: 10.1093/omcr/omaf061 · Oxford Medical Case Reports · 2025-06-27

## TL;DR

A rare case of Dandy-Walker Syndrome variant combined with Leigh Syndrome in a child is reported, highlighting the importance of early multidisciplinary treatment for improved outcomes.

## Contribution

A case report demonstrating a multidisciplinary treatment approach for a rare combination of Dandy-Walker Syndrome variant and Leigh Syndrome in children.

## Key findings

- Late diagnosis of Dandy-Walker Syndrome variant combined with Leigh Syndrome in a pediatric patient.
- Multidisciplinary treatment involving medical, speech therapy, and physiotherapy improved prognosis.
- Early intervention is crucial for better outcomes in pediatric neurodegenerative diseases.

## Abstract

Introduction: Dandy-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.

## Linked entities

- **Diseases:** Dandy-Walker Syndrome (MONDO:0009072), Leigh Syndrome (MONDO:0009723)

## Full-text entities

- **Diseases:** neurodegenerative diseases (MESH:D019636), Leigh Syndrome (MESH:D007888), D-WS (MESH:D003616), dandy-walker variant syndrome (MESH:C535772), cerebellar dysgenesis (MESH:C563331), cerebellar vermis hypoplasia (MESH:C537206), congenital brain anomaly (MESH:D058494)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

8 references — full list in the complete paper: https://tomesphere.com/paper/PMC12202306/full.md

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Source: https://tomesphere.com/paper/PMC12202306