Report of a new mutation in Colombia in a patient with Kabuki Syndrome
DOI:
https://doi.org/10.17533/udea.iatreia.38Keywords:
congenital abnormalities, cholangitis sclerosing, Colombia, genetic phenomenaAbstract
Introduction: Kabuki Syndrome is a pediatric congenital disorder of genetic origin. These patients present morphological abnormalities such as cleft palate, prominent eyeballs, persistence of fingerpads, and vertebral abnormalities. Most also have learning difficulty.
Objective: Report a pediatric case of Kabuki Syndrome to increase the recognition of the phenotype associated with it and the likelihood of a diagnosis with the use of a clinical case report. Case report: A nine-year-old male patient with clinical characteristics and probable genetic diagnosis of Kabuki Syndrome. He exhibits elongated eyelids, cleft palate, low auricular implantation, persistence of fingerpads, reduced height, and primary sclerosing cholangitis.
Conclusion: Diagnostic suspicion of type one Kabuki Syndrome is characterized mainly by facial alterations. The following patient presents multiple distinctive characteristics described in literature. A genetic study considers the gene KMT2D a possible pathologic genetic variant of the disease.
Downloads
References
(1.) Andersen MS, Menazzi S, Brun P, Cocah C, Merla G, Solari A. Diagnóstico clínico en el síndrome de Kabuki: fenotipo y anomalías asociadas en dos casos nuevos. Arch. argent. pediatr. 2014 Feb;112(1):26-32. DOI 10.5546/aap.2014.e13.
(2.) Adam MP, Hudgins L, Hannibal M. Kabuki Syndrome. In: GeneReviews. EEUU: University of Washington; 2018.
(3.) Suarez Guerrero JL, Ordóñez Suarez AA, Contreras García GA. Síndrome de Kabuki. An Pediatr (Barc). 2012;77(1):51-6. DOI 10.1016/j.anpedi.2012.01.016.
(4.) Lugones Botell M, Ramírez Bermúdez M, Pichs García LA, Ríos Rodríguez JJ. Síndrome de Kabuki. Rev Cubana Pediatr. 2006 Jun;78(2).
(5.) Karlsen T, Folseraas T, Thorburn D, Vesterhus M. Primary sclerosing cholangitis - a comprehensive review. J Hepatol. 2017 Dec;67(6):1298-323. DOI 10.1016/j.jhep.2017.07.022.
(6.) Sirpal S, Chandhok N. Primary sclerosing cholangitis: diagnostic and management challenges. Clin Exp Gastroenterol. 2017;10:265-73. DOI 10.2147/CEG.S105872.
(7.) Williamson KD, Chapman RW. Primary sclerosing cholangitis: a clinical update. Br Med Bull. 2015;114(1):53-64. DOI 10.1093/bmb/ldv019.
(8.) Lazaridis KN, LaRusso NF. Primary Sclerosing Cholangitis. N Engl J Med. 2016 Sep 22;375(12):1161-70. DOI 10.1056/NEJMra1506330.
(9.) Sinicrope FA. Biliary Obstruction. In: Kufe DW, Pollock RE, Weichselbaum RR, Bast RC, Gansler TS, Holland JF, et al., editors. Holland-Frei Cancer Medicine. 6th edition. Hamilton: BC Decker; 2003.
(10.) Zak A, Zeman M, Slaby A, Vecka M. Xanthomas: Clinical and pathophysiological relations. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2014 Jun;158(2):181-8. DOI 10.5507/bp.2014.016.
(11.) Senosiain Lalastra C, Tavío Hernández E, Moreira Vicente V, Maroto Castellanos M, García Sánchez M, Aicart Ramos M et al. Pancreatitis aguda por hipertrigliceridemia. Gastroenterol. hepatol. contin. 2013;36(4):274-79. DOI 10.1016/j.gastrohep.2012.11.006.
Published
How to Cite
Issue
Section
License
Copyright (c) 2019 Universidad de Antioquia
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Papers published in the journal are available for use under the Creative Commons license, specifically Attribution-NonCommercial-ShareAlike 4.0 International.
The papers must be unpublished and sent exclusively to the Journal Iatreia; the author uploading the contribution is required to submit two fully completed formats: article submission and authorship responsibility.
