Neuro-ophthalmology and strabismus findings in a patient with Kabuki Syndrome
DOI:
https://doi.org/10.15332/us.v19i0.2485Keywords:
Cerebral Cortex, Strabismus, NeuroimagingAbstract
Kabuki syndrome is a congenital, evolutionary, and permanent disorder that has characteristic clinical manifestations. The case of a girl with a diagnosis of MLL2 positive Kabuki syndrome is presented who underwent typing, clinical characterization, ophthalmological study, strabismological, visual perceptual analysis, optometric and neuroimaging studies. Characteristic facies, dissociated strabismus, anisocoria, decreased perceptual abilities, hypo coherence and significant interhemispheric asymmetry were identified for Delta and Theta, decreased volume of the left hippocampus and arborization of the visual pathway in its left posterior portion, decreased choline and an increase in cortical lactate. The study revealed cortical and visual pathway alterations.
Downloads
References
Hernández-Woodbine MJ, Del Castillo-Rix DS, Baquero-Mejía IC. Reporte de una nueva mutación en Colombia: un paciente con síndrome de Kabuki. Iatreia 2019;33(1):78-83. doi: 10.17533/udea.iatreia.38.
Dentici ML, Di Pede A, Lepri FR, Gnazzo M, Lombardi MH, Auriti C, et al. Kabuki syndrome: clinical and molecular diagnosis in the first year of life. Arch Dis Child. 2015;100(2):158-64. doi: 10.1136/archdischild-2013-305858.
Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N, et al. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. Eur J Hum Genet. 2012 Apr;20(4):381-8. doi: 10.1038/ejhg.2011.220.
Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, et al. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A. 2013 Sep;161A(9):2234-43. doi: 10.1002/ajmg.a.36072.
Suarez Guerrero JL, Ordónez Suarez AA, Contreras García GA. Síndrome de Kabuki. Ann Pediatr (Barc). 2012;77(1):51-6. doi: 10.1016/j.anpedi.2012.01.016.
Barradas-Hernández M, Velasco-Orozco M, Jardines-Serralde L. Hallazgos audiológicos en el síndrome Kabuki. Reporte de un caso. Rev Mex AMCAOF 2015;4(1):23-31.
Osorio-Alarcón C, Olaya-Mantilla C, Silvera-Redondo C, Garavito-Galofre P. Síndrome de Kabuki: presentación de un caso y revisión de la literatura. Revista Científica Salud Uninorte 2016;32(3):565-75.
Griffiths P, Strong K, Gardner S, et al. DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes. Orphanet J Rare Dis. 2010;5(Suppl 1): P20. doi:10.1186/1750-1172-5-S1-P20
Caciolo C, Alfieri P, Piccini G, Digilio MC, Lepri FR, Tartaglia M, et al. Neurobehavioral features in individuals with Kabuki syndrome. Mol Genet Genomic Med. 2018 May;6(3):322-331. doi: 10.1002/mgg3.348.
Kluijt I, Van Dorp DB, Kwee ML, Toutain A, Keppler-Noreuil K, Warburg M. Kabuki syndrome – report of 6 cases and review of the literature with emphasis on ocular features. Ophthalmol Genet 2000; 21: 51–61. doi: 10.1076/1381-6810(200003)2111-IFT051
Evans SL, Kumar N, Rashid MH, Hughes DS. New ocular findings in a case of Kabuki syndrome. Eye (Lond). 2004 Mar;18(3):322-4. doi: 10.1038/sj.eye.6700649.
Gallegos-Duarte M, Mendiola-Santibanez JD, Ibrahimi D, Paredes-Orta C, Rodriguez-Resendiz J, Gonzalez-Gutierrez CA. A novel method for measuring subtle alterations in pupil size in children with congenital strabismus. IEEE Access 2016;4(1):1-14. doi: 10.1109/ACCESS.2020.3007873.
Pascual Castroviejo I, Pascual Pascual SI, Velázquez Fragua R, Palencia Luaces R. Síndrome del maquillaje Kabuki. A propósito de 18 casos españoles. Rev Neurol 2005;40(8):473-78. doi: 10.33588/rn.4008.2004521.
Fitzgerald BA, Billson FA. Dissociated vertical deviation: evidence of abnormal visual pathway projection. Br J Ophthalmol. 1984;68(11):801-6. doi: 10.1136/bjo.68.11.801.
Aksoy DÖ, Alkan A. Neurometabolic Diseases in Children: Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy Features. Curr Med Imaging Rev. 2019;15(3):255-268. doi: 10.2174/1573405613666171123152451.
