Dear Label_Name,

Greetings! I hope you are well.

I am writing on behalf of an international publishing house, Science and Education Publishing, USA (http://www.sciepub.com).

Science and Education Publishing (SciEP) is a multidisciplinary open access publisher of Journals covering the fields of Science, Technology and Medicine. All SciEP publications are subject to high-quality peer review, editorial and production processes and are freely available online.

Welcome to the April, 2013 edition of SciEP newsletter, providing monthly summaries of articles on science & education related topics of interest to scientist and professionals. The mission of our journals is to provide an open access forum for publishing new findings on issues pertinent to scientific and academic field. We also invite you to submit original research papers, review articles, short reports, or case studies are considered for publication in our Multidisciplinary Journals.

American Journal of Public Health Research
DOI: 10.12691/ajphr-1-1-3

The Implementation of a Tele-Homecare System with Service Oriented Architecture and HL7 Message Transmission Standard
Ching-Sung Wang

American Journal of Medical and Biological Research
DOI: 10.12691/ajmbr-1-1-2

The Influence of Ethanol on Pyruvate Kinases Activity in Vivo, in Vitro, in Silico
Lelevich Sergey Vladimirovich, Khrustalev Vladislav Victorovich, Barkovsky Eugene Victorovich, Shedogubova Tatyana Aleksandrovna

American Journal of Medical Sciences and Medicine
DOI: 10.12691/ajmsm-1-1-1

Clinical and Histological Features in Wegener Granulomatosis
Li Cavoli Gioacchino, Passantino Rita, Bono Luisa, Tortorici Calogera, Ferrantelli Angelo, Giammarresi Carlo, Rotolo Ugo

American Journal of Infectious Diseases and Microbiology
DOI: 10.12691/ajidm-1-1-2

The Curse of Lymphatic Filariasis: Would the Continual Use of Diethylcarbamazine Eliminate this Scourge in Papua New Guinea?
Anne Lanham, Lillian Mwanri

We have released issues of some journals on February 2013.
American Journal of Public Health Research
American Journal of Medical Sciences and Medicine
American Journal of Medical and Biological Research
American Journal of Pharmacological Sciences
American Journal of Clinical Medicine Research
American Journal of Nursing Research
American Journal of Cancer Prevention
American Journal of Medicine Studies
American Journal of Infectious Diseases and Microbiology
American Journal of Cardiovascular Disease Research
American Journal of Biomedical Research
American Journal of Mechanical Engineering
American Journal of Microbiological Research
Journal of Preventive Medicine
American Journal of Food and Nutrition
American Journal of Hypertension Research
American Journal of Sports Science and Medicine
Journal of Cancer Research and Treatment
American Journal of Zoological Research
Journal of Biomedical Engineering and Technology
American Journal of Microbiological Research
Biomedical Science and Engineering

We are pleased to announce that submissions are now being accepted for peer review for all the journals across all our subject areas in SciEP.

Please submit your manuscript via our online submission system:
http://www.sciepub.com/author/signin

To unsubscribe from our mailing list, please click on the following link: unsubscribe

I am looking forward to hearing from you.

Kind regards,

David Rain
Email:join@sciepub.com
Science and Education Publishing (http://www.sciepub.com)

A Celiac Mimicry: Kabuki Syndrome

Hakim Rahmoune*, Nada Boutrid, Nadji Djerrad

LMCVGN Research Laboratory, Setif-1 University, Algeria

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

Received September 27, 2021; Revised November 02, 2021; Accepted November 10, 2021

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

1. Introduction

As an autoimmune disorder and occurring on a particular genetic ground (i.e. HLA DQ2/DQ8), celiac disease (CD) can nevertheless mimic a very specific syndromic association. We present a case of a very rare presentation of Kabuki Syndrome type 2.

2. Case Presentation

We present the case of a 12-year-old boy, diagnosed since the age of 05 as CD with digestive signs and supported by digestive endoscopy with histology in favor of Marsh stage III villous atrophy. No initial celiac serology was performed when the diagnosis was made.

He started gluten-free diet since at that moment, and consulted for a follow-up of CD in the outpatient clinic and presented on clinical examination, in addition to typical facial dysmorphia, mental retardation and pronounced visual impairment.

The ophthalmology review reveals severe bilateral optic atrophy. Optical Coherence Tomography subsequently confirms these typical lesions of optical atrophy. Neurological investigation (neuropediatric consultation, EEG and brain MRI) did not find any other specific stigmata. Likewise, the cardiac evaluation (ECG, cardiac ultrasound) is without particularities. A complete class II HLA typing is ordered for this peculiar case and the result is unequivocal: absence of the risk genes HLA DQ2 / DQ8.

Finally, the diagnosis of Kabuki Syndrome is retained according to the 2019 consensus criteria [1]. This made it possible to release the child's diet with an appreciable weight gain (+ 2 kg) over 12 months.

3. Discussion

The association of these symptoms is almost pathognomonic of Kabuki Syndrome: a rare, genetic association characterized by growth delay, intellectual deficit, and typical facial dysmorphia (hence the name of Kabuki = make-up of Japanese theatre actors) and various skeletal, cardiac, renal and ocular malformations [1,2,3,4,5,6,7].

Dysmorphic features encompass long palpebral fissures, eversion of the lateral third at the lower eyelid; large and arched eyebrows; short columella, depressed nasal tip; malformed ears [2].

Neurological involvement is almost constant, particularly the intellectual delay, sometimes with specific scars on brain MRI [4].

Two distinct genetic types of Kabuki Syndrome are described [1,3,8]:

- Kabuki Syndrome Type 1, OMIM 147920: autosomal dominant, gene 12q13.12

- Kabuki Syndrome Type 2, OMIM 300867: X-linked, Xp11.3 gene

The specific genetic test could not be performed in our patient; nevertheless, the most likely type for this patient is type 2 due to the absence of similar manifestations in his parents.

Several presentations similar to our patient, mimicking or associating celiac disease, have already been described worldwide and reported sparingly in the literature [2,7]

There is a wide heterogeneous spectrum of clinical manifestations in KS, some authors recently suggested introducing additional diagnostic criteria for correct and early recognition of this syndrome [7].

The management of this syndrome is not specific and depends on the organ/system involvement [2,9].

4. Conclusion

Kabuki Syndrome is a rare genetic disorder that may induce malabsorption; diarrhea and growth failure and so simulate a celiac disease.

Cautious examination and a holistic patient’ approach are mandatory.

Acknowledgements

N. Boutrid and H. Rahmoune (from LMCVGN laboratory) are supported by the Directorate General for Scientific Research and Technological Development (DGRSDT), MESRS, Algeria.

The sponsor had no involvement in the collection, analysis and interpretation of data nor in the writing of the manuscript.

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.