# A Rare Diagnosis of Caroli Syndrome in a Young Patient

**Authors:** Elaheh Karimzadeh‐Soureshjani, Farab Pourhasan, Pouria Ahmadi Simab, Sajjad Shojaei, Yasaman Mohammadian

PMC · DOI: 10.1002/ccr3.70555 · Clinical Case Reports · 2025-05-30

## TL;DR

A young patient was diagnosed with the rare Caroli syndrome, highlighting the importance of early imaging for better outcomes.

## Contribution

Presents a rare case emphasizing the need for early MRCP-based diagnosis of Caroli syndrome.

## Key findings

- Caroli syndrome was diagnosed in a young patient using MRCP imaging.
- Early diagnosis helps prevent severe complications like cholangitis and biliary cirrhosis.
- Timely intervention and monitoring improve patient outcomes significantly.

## Abstract

Caroli syndrome is a rare but serious congenital disorder associated with portal hypertension and polycystic kidney disease. Early diagnosis via imaging, particularly MRCP, is crucial to prevent life‐threatening complications such as cholangitis and biliary cirrhosis. Timely intervention and close monitoring can significantly improve patient outcomes.

## Linked entities

- **Diseases:** Caroli syndrome (MONDO:0018808), portal hypertension (MONDO:0005080), polycystic kidney disease (MONDO:0020642), cholangitis (MONDO:0004789)

## Full-text entities

- **Diseases:** cholangitis (MESH:D002761), congenital disorder (MESH:D009358), portal hypertension (MESH:D006975), Caroli Syndrome (MESH:D016767), polycystic kidney disease (MESH:D007690), biliary cirrhosis (MESH:D008105)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12124995/full.md

## References

17 references — full list in the complete paper: https://tomesphere.com/paper/PMC12124995/full.md

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Source: https://tomesphere.com/paper/PMC12124995