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Article Details
Case Report
Volume 4, Issue 12 (December Issue)

Crohns Disease in Hajdu-Cheney Syndrome: Report of Two Cases and Literature Review

Irem Eldem1, David B. Wilson1,2, Elizabeth C. Utterson1, Dorothy K. Grange1, Iwona T. Wrobel3, Francois Bernier4, Luis Murguia-Favela3 and Megan A. Cooper1,5*

1Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri, USA

2Department of Developmental Biology, Washington University School of Medicine, St. Louis, Missouri, USA

3Department of Pediatrics, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada

4Department of Medical Genetics, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada

5Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA

*Corresponding author: Megan Cooper, Washington University School of Medicine, Campus Box 8208-0016-06, St. Louis, Missouri, USA. E-mail: cooper_m@wustl.edu

Received: November 24, 2022; Accepted: December 06, 2022; Published: December 15, 2022

Citation: Eldem I, Wilson DB, Utterson EC, et al. Crohn's Disease in Hajdu-Cheney Syndrome: Report of Two Cases and Literature Review. Clin Image Case Rep J. 2022; 4(12): 285.

Abstract

Hajdu-Cheney syndrome (HCS) is a rare skeletal disorder caused by heterozygous gain-of-function variants in NOTCH2. In addition to skeletal abnormalities, a mouse model of HCS exhibited splenomegaly and increased marginal zone B cells, but it is unclear whether humans with HCS have immunologic abnormalities. Here, we report two patients with HCS who developed pediatric-onset Crohn’s disease (CD). Both children had other features of immune dysregulation, one having immune thrombocytopenia and the other having lymphoproliferation with infectious susceptibility. These cases and others in the literature suggest that HCS is associated with broader immune dysregulation and that NOTCH2 is a CD susceptibility gene.

Keywords: Graves' disease; Immune thrombocytopenia; Inflammatory bowel disease; ITP; Notch2