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Case Report
Gaucher disease type 3 presenting with deformation of inferior limbs and bone infarction: A case report
1 Department of Radiology, Mother and Child Hospital, CHU Ibn-Sina, BP 6527, Rue Lamfadel Cherkaoui, Rabat, Morocco
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Zakaria Abide
Department of Radiology, Mother and Child Hospital, CHU Ibn-Sina, BP 6527, Rue Lamfadel Cherkaoui, Rabat,
Morocco
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Article ID: 100024R02ZA2023
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Abide Z, Es-Sebbani C, Cherraqi A, El Haddad S, Allali N, Chat L. Gaucher disease type 3 presenting with deformation of inferior limbs and bone infarction: A case report. Edorium J Radiol 2023;9(2):1–4.ABSTRACT
Introduction: Gaucher disease (GD) is a lysosomal storage disorder characterized by the accumulation of glucocerebroside in various cells throughout the body. Bone infarction is a common and fearsome complication.
Case Report: We present the case of a 5-year-old child diagnosed with Gaucher disease type 3, who exhibited deformation of the inferior limbs and bone pain. Upon evaluation, radiographic examination of the limbs revealed a characteristic triangular appearance of the metaphysis and a serpiginous sclerotic area. A magnetic resonance imaging was performed to confirm the diagnosis of bone infarction.
Conclusion: Gaucher disease is a complex genetic disorder. Bone involvement is a significant manifestation causing pain, bone crises, deformities. Various imaging techniques can help for an accurate diagnosis and for a timely intervention and prevention of the disease progression.
Keywords: Bone infraction, Gaucher disease, MRI, Standard radiography
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Author Contributions
Zakaria Abide - 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
Chaimae Es-Sebbani - Substantial contributions to conception and design, Analysis of data, Interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Amine Cherraqi - Analysis of data, Interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Siham El Haddad - Interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Nazik Allali - Interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published
Latifa Chat - Interpretation of data, Revising it critically for important intellectual content, 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© 2023 Zakaria Abide 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.
