# Exploring the link: Sturge-Weber syndrome and pituitary macroadenomas: A case report and review

**Authors:** Razi Hashmi, Mohamed Elmeligy, Daniel Fabian, Arun Mahtani, Meena Farid, Meheret Kinfe, Paul Karroum, GianPaolo Piccione, Mahmoud Mahmoud, Mohamed Albakri, Inderbir Padda

PMC · DOI: 10.1016/j.radcr.2024.07.115 · 2024-08-18

## TL;DR

This paper reports a rare case of a man with Sturge-Weber syndrome who also had a pituitary tumor, suggesting a possible link between the two conditions.

## Contribution

The paper presents a new case report and review, highlighting a potential but under-researched connection between SWS and pituitary macroadenomas.

## Key findings

- A 20-year-old man with SWS was found to have a pituitary macroadenoma and elevated prolactin levels.
- The case suggests a possible embryological, genetic, or hormonal link between SWS and pituitary tumors.
- The authors recommend routine neuroimaging and endocrine assessments for SWS patients to detect such complications.

## Abstract

Sturge-Weber syndrome (SWS) is a rare congenital disorder marked by facial port-wine birthmarks, neurological impairments, and ocular anomalies. Our case report describes a 20-year-old man with SWS who presented with right-sided weakness, slurred speech, and oral dyskinesia. Laboratory studies demonstrated elevated prolactin levels, and imaging confirmed a pituitary macroadenoma. While not well-documented, the association between SWS and pituitary macroadenomas is emerging based on current evidence. The potential link may involve embryological, genetic, or hormonal factors influencing the simultaneous development of these conditions. This case highlights the need for a thorough evaluation in patients with SWS, incorporating both neuroimaging and endocrine assessments to manage associated complications effectively. Further research is necessary to investigate the link between SWS and pituitary tumors. Establishing evidence-based guidelines for the screening and management of these patients will improve outcomes and provide a standardized approach to care.

## Linked entities

- **Diseases:** Sturge-Weber syndrome (MONDO:0008501)

## Full-text entities

- **Genes:** PRL (prolactin) [NCBI Gene 5617] {aka GHA1, pPRL}
- **Diseases:** pituitary macroadenoma (MESH:D010900), oral dyskinesia (MESH:D020820), weakness (MESH:D018908), pituitary tumors (MESH:D010911), ocular anomalies (MESH:D005124), neurological impairments (MESH:D009422), congenital disorder (MESH:D009358), SWS (MESH:D013341)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

6 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11378102/full.md

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Source: https://tomesphere.com/paper/PMC11378102