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Case Report
Hurler syndrome and breast cancer with metastasis: A case report
1 Fourth Year Medical Student, Ohio University Heritage College of Osteopathic Medicine, OUHCOM, Warrensville Heights, OH, USA
2 General Surgeon, DO, FACS, Department of General Surgery, Lake Health Medical Center, Willoughby, OH, USA
Address correspondence to:
Avalon Regalbuto
OMSIV, 20000 Harvard Ave, Warrensville Heights, OH 44122,
USA
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Article ID: 100074Z10AR2020
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Regalbuto A, Klenotic E. Hurler syndrome and breast cancer with metastasis: A case report. J Case Rep Images Oncology 2020;6:100074Z10AR2020.ABSTRACT
Introduction: This case report describes a patient with Hurler syndrome, which is an inherited disease commonly diagnosed within the first few years after birth. It has a series of facial characteristics, organomegaly, developmental impairments, and skeletal deformities to aid in its diagnosis, along with mutated or low levels of a-L-iduronidase, the keystone to the disease. Interestingly, without treatment, oftentimes patients will not survive for longer than school-aged years.
Case Report: The objective of this report is to discuss and explain the occurrence of breast cancer in a 32-year-old Hurler syndrome patient, who received whole body irradiation as a child as treatment for her disease. Thus far, there has been no report in the literature exploring the relationship between cancer and Hurler syndrome. This report will describe the disease, its risk factors for cancer, specifically breast cancer, current screening guidelines, prognosis, and breast cancer treatment options.
Conclusion: This case report describes the risk factors of Hurler syndrome in developing breast cancer, current screening practices, breast cancer prognosis, and treatment options. The purpose of this report is to emphasize the importance of patient-centric screening. Overall, this report adds to the literature the first known Hurler syndrome patient diagnosed with breast cancer.
Keywords: Breast cancer, Hurler syndrome, Irradiation, Metastasis
SUPPORTING INFORMATION
Acknowledgments
The authors would like to thank Lake Health Medical Center and Ohio University Heritage College of Osteopathic Medicine.
Author ContributionsAvalon Regalbuto - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Eveline Klenotic - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Final approval of the version to be published
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2020 Avalon Regalbuto et al.. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
