International Journal of Celiac Disease
ISSN (Print): 2334-3427 ISSN (Online): 2334-3486 Website: https://www.sciepub.com/journal/ijcd Editor-in-chief: Samasca Gabriel
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International Journal of Celiac Disease. 2021, 9(3), 91-92
DOI: 10.12691/ijcd-9-3-2
Open AccessCase Study

A Celiac Mimicry: Kabuki Syndrome

Hakim Rahmoune1, 2, , Nada Boutrid1, 2 and Nadji Djerrad3

1LMCVGN Research Laboratory, Setif-1 University, Algeria

2Department of Pediatrics, University Hospital of Setif; Setif-1 University, Algeria

3Department of Ophthalmology, University Hospital of Babeloued, Algeria

Pub. Date: November 10, 2021

Cite this paper:
Hakim Rahmoune, Nada Boutrid and Nadji Djerrad. A Celiac Mimicry: Kabuki Syndrome. International Journal of Celiac Disease. 2021; 9(3):91-92. doi: 10.12691/ijcd-9-3-2

Abstract

Kabuki Syndrome is a rare genetic condition with a large panel of manifestations, including digestive symptoms that may simulate a celiac disease. We present a case of a very rare presentation of Kabuki Syndrome type 2.

Keywords:
celiac disease kabuki syndrome HLA

Creative CommonsThis work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

References:

[1]  Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board. Kabuki syndrome: international consensus diagnostic criteria. J Med Genet. 2019 Feb; 56(2): 89-95.
 
[2]  Adam MP, Hudgins L, Hannibal M. Kabuki Syndrome. 2011 Sep 1 [Updated 2021 Jul 15]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK62111/.
 
[3]  Adam M, Hudgins L. Kabuki syndrome: a review: Kabuki syndrome. Clinical Genetics. 20 oct 2004; 67(3): 209-19.
 
[4]  Boisgontier J, Tacchella JM, Lemaître H, Lehman N, Saitovitch A, Gatinois V, et al. Anatomical and functional abnormalities on MRI in kabuki syndrome. NeuroImage: Clinical. 2019; 21: 101610.
 
[5]  Geneviève D, Amiel J, Viot G, Le Merrer M, Sanlaville D, Urtizberea A, Gérard M, Munnich A, Cormier-Daire V, Lyonnet S. Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. Am J Med Genet A. 2004 Aug 15; 129A(1): 64-8.
 
[6]  Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. Congenital heart defects in Kabuki syndrome. American Journal of Medical Genetics. 2001; 100(4): 269-74.
 
[7]  Di Candia F, Fontana P, Paglia P, Falco M, Rosano C, Piscopo C, Cappuccio G, Siano MA, De Brasi D, Mandato C, De Maggio I, Squeo GM, Monica MD, Scarano G, Lonardo F, Strisciuglio P, Merla G, Melis D. Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature. Eur J Pediatr. 2021 Jul 7.
 
[8]  Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet. sept 2010;42(9):790-3.
 
[9]  Philip N, Devriendt K, Clayton-Smith J. Management of Kabuki Syndrome: a clinical guideline [Internet]. Version.