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Case Report
Rare encounter of Hirschsprung’s disease and CARD11 mutation: A diagnostic challenge
1 MD, Department of Pediatrics, Brooke Army Medical Center, JBSA Ft Sam Houston, TX, USA
2 MD, Department of Allergy and Immunology, Wilford Hall Ambulatory Surgical Center, Lackland Air Force Base, TX, USA
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Jareatha Abdul-Raheem
3551 Roger Brooke Dr, Fort Sam Houston, TX,
USA
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Article ID: 100027Z19JR2024
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Abdul-Raheem J, Gabreski L, Schuldt M, Adams K. Rare encounter of Hirschsprung’s disease and CARD11 mutation: A diagnostic challenge. J Case Rep Images Pediatr 2024;6(2):11–16.ABSTRACT
Introduction: Hirschsprung’s disease (HD), a congenital condition characterized by aganglionosis, is associated with enterocolitis, which requires repeated antibiotic exposure to drugs associated with drug-induced lupus (DIL). Drug-induced lupus mimics systemic lupus erythematosus (SLE) but typically resolves upon discontinuation of the triggering medication. CARD11 is essential for lymphocyte signaling and immune regulation, and its mutations are associated with immune disorders.
Case Report: A five-year-old male with HD and Hirschsprung-associated enterocolitis (HAEC) developed symptoms of DIL, including malar rash, fatigue, while taking cephalexin. During the evaluation, the patient tested positive for SLE-associated autoantibodies and a CARD11 mutation, making it difficult to determine the origin of the symptoms. Resolution of symptoms and laboratory abnormalities after stopping cephalexin administration made DIL the probable cause.
Conclusion: Through this case, we hope to further elucidate the connections between HD, DIL, and CARD11 mutation and demonstrate the diagnostic challenge with genetic mutations in the context of autoimmune dysfunction.
Keywords: Atopic disease, CARD11 mutation, Drug-induced lupus, Enterocolitis, Hirschsprung’s disease
SUPPORTING INFORMATION
Acknowledgments
We would like to thank the patient and the patient’s family for their participation and support.
Author ContributionsJareatha Abdul-Raheem - Conception of the work, Design of the work, Acquisition of data, Drafting the work, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Lauren Gabreski - Conception of the work, Design of the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Meredith Schuldt - Conception of the work, Design of the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Karla Adams - Conception of the work, Design of the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
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© 2024 Jareatha Abdul-Raheem 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.
