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Background <p>Several studies have demonstrated an increased risk of malignancy in patients with Gaucher disease, particularly hematological cancers, which have been most frequently reported in Gaucher disease type 1. In contrast, the risk of malignancy in patients with Gaucher disease type 3 has received limited attention.</p> Case presentation <p>We report the case of an adolescent female with Gaucher disease type 3 who presented with a gradual and progressive right-sided proptosis. Further evaluation confirmed the diagnosis of orbital rhabdomyosarcoma.</p> Conclusion <p>Gaucher disease type 3 is characterized by a broad phenotypic spectrum. Whether it confers an increased risk for solid malignancies remains unclear, a coincidental coexistence rather than a causal relationship is probably the course in our case, however further studies need to done.</p>

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Orbital rhabdomyosarcoma in a patient with Gaucher disease type 3: a case report and literature review

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年2月25日

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  • Azza Abdel Gawad Tantawy,
  • Amira Abdel Moneam Adly,
  • Khaled Anwar El Sayed,
  • Salwa Mostafa Abdelkader,
  • Nihal Hussien aly

摘要

Background

Several studies have demonstrated an increased risk of malignancy in patients with Gaucher disease, particularly hematological cancers, which have been most frequently reported in Gaucher disease type 1. In contrast, the risk of malignancy in patients with Gaucher disease type 3 has received limited attention.

Case presentation

We report the case of an adolescent female with Gaucher disease type 3 who presented with a gradual and progressive right-sided proptosis. Further evaluation confirmed the diagnosis of orbital rhabdomyosarcoma.

Conclusion

Gaucher disease type 3 is characterized by a broad phenotypic spectrum. Whether it confers an increased risk for solid malignancies remains unclear, a coincidental coexistence rather than a causal relationship is probably the course in our case, however further studies need to done.