# Dandy-Walker Malformation and Optic Nerve Hypoplasia: A Developmental Case Highlighting the Psychiatric Impact of Central Nervous System Malformation

**Authors:** Sumeet Bhardwaj, Aayush Kapoor, Yuan Xie, Ali H Thahab, Affan Naveed, Omer Khan, Kevin Tu, Thinh D Mai

PMC · DOI: 10.7759/cureus.93718 · Cureus · 2025-10-02

## TL;DR

This case study describes a rare combination of brain malformations in an adult and their impact on psychiatric and cognitive health.

## Contribution

The paper presents one of the first adult cases of co-occurring Dandy-Walker malformation and optic nerve hypoplasia with longitudinal psychiatric outcomes.

## Key findings

- The patient exhibited auditory hypersensitivity, visual agnosia, and learning difficulties.
- She developed depression, anxiety, and insomnia, but did not show autistic traits despite the risk.
- The case suggests overlapping brain anomalies may increase vulnerability to psychiatric illness.

## Abstract

Dandy-Walker malformation (DWM) and optic nerve hypoplasia (ONH) are rare congenital anomalies associated with neuropsychiatric morbidity, but their co-occurrence in adults has not been described. We present an adult patient with both DWM and unilateral ONH who developed auditory hypersensitivity, visual agnosia, phonological dyslexia, dysgraphia, and longstanding academic challenges, later evolving into recurrent depression, anxiety, and insomnia. Neuroimaging revealed a Dandy-Walker variant with cerebellar atrophy and ONH, and her presentation was consistent with cerebellar cognitive affective syndrome. Notably, despite the established risk of autism spectrum-like traits in both DWM and ONH, she did not demonstrate autistic features. This case highlights how overlapping congenital anomalies may synergistically increase vulnerability to psychiatric illness and underscores the importance of early recognition and tailored interventions. To our knowledge, this is among the first adult cases describing co-occurring DWM and ONH with a longitudinal psychiatric course.

## Linked entities

- **Diseases:** Dandy-Walker malformation (MONDO:0009072), optic nerve hypoplasia (MONDO:0008136), depression (MONDO:0002050), anxiety (MONDO:0005618), insomnia (MONDO:0013600)

## Full-text entities

- **Diseases:** ONH (MESH:D000080344), cerebellar atrophy (MESH:D002526), visual agnosia (MESH:D000377), dysgraphia (MESH:D000381), congenital anomalies (MESH:D000013), depression (MESH:D003866), auditory hypersensitivity (MESH:D004342), autism (MESH:D001321), phonological dyslexia (MESH:D004410), insomnia (MESH:D007319), Psychiatric (MESH:D001523), DWM (MESH:D003616), Central Nervous System Malformation (MESH:D020785), anxiety (MESH:D001007)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC12580587/full.md

## References

20 references — full list in the complete paper: https://tomesphere.com/paper/PMC12580587/full.md

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Source: https://tomesphere.com/paper/PMC12580587