medigraphic.com

2023, Number 2

<< Back Next >>

rev homeostasis 2023; 5 (2)

Síndrome de Aicardi: Presentación de un caso clínico y revisión de la literatura

Gamboa GRS, Pineda MKE, Valero RAD, Valladolid GMF, Vega BA, Contreras PMR

Language: Spanish
References: 11
Page:
PDF size: 114.74 Kb.


ABSTRACT

Aicardi syndrome (AS) is a genetic condition characterized by the clinical triad of infantile spasms, agenesis of the corpus callosum and ocular abnormalities. The worldwide prevalence is 4000 patients, with a median survival of 18.5 years. Its etiology is unknown, however, the literature suggests an X-linked dominant inheritance, because it affects females or males with Klinefelter syndrome and is lethal in male hemizygotes.
The present article aims to describe the case of a 14-year-old female adolescent. Ophthalmological examination showed chorioretinal lacunae, while neurological findings included heterotopia of the right thalamus, midline cysts, Lennox Gastaut syndrome and delayed psychomotor development, given the diagnosis of AS.


REFERENCES

  1. Menezes JC de O, Silva FEF da, Félix ÉG,Alchieri JC, Silva JG da. Aicardi syndrome:a case report. Rev Bras Saúde MaternoInfant [Internet]. 2018 [citado el 13 deagosto de 2022];18(4):835–45.Disponible en:https://www.scielo.br/j/rbsmi/a/75GPy34TLtNVCNz46wpPMmM/?lang=en

  2. Hernández-Arriaga P, Luna-Macías VB,Zamudio-Martínez A, Zamudio-Martínez Gy Rizo-Jiménez A. Revista Médica MDSíndrome de Aicardi y hallazgos deneuroimagen. 2019:11(1):45-49.

  3. Cuenca NTR, Peñaranda MFC, ValderramaCAC, Ortiz SA, Ortiz AFH. Diagnosticapproach to Aicardi syndrome: A casereport. Radiol Case Rep [Internet]. 2022[citado el 13 de agosto de2022];17(9):3035–9. Disponible en:http://dx.doi.org/10.1016/j.radcr.2022.05.067

  4. Kim HJ, Lozano-Garza RI, de Dios-Cuadras U, Guerrero-Becerril J,Urióstegui-Rojas A, Chacón-Camacho OF,et al. Síndrome de Aicardi: reporte decaso. Más allá de la oftalmología. Revmex oftalmol [Internet]. 2021 [citado el13 de agosto de 2022];95(4). Disponibleen:https://www.rmo.com.mx/frame_esp.php?id=232

  5. Villarreal-Ybazeta M, Tirado-Chavarría F,Calderón-Alarcón N. Rev Neuropsiquiatr.Síndrome de Aicardi: Presentación de uncaso clínico y revisión de la literatura.2016:79(1)59-65.

  6. Bibiana K Y Wong, V Reid Sutton. Am JMed Genet. Aicardi syndrome, anunsolved mystery: Review of diagnosticfeatures, previous attempts, and futureopportunities for genetic examination.2018;178C:423–431

  7. Govil-Dalela T, Kumar A, Agarwal R,Chugani HT. Agenesis of the CorpusCallosum and Aicardi Syndrome: ANeuroimaging and Clinical Comparison.Pediatric Neurology [Internet]. 2017 Mar[citado el 20 de mayo de 2021];68:44-48.e2. Disponible en:https://pubmed.ncbi.nlm.nih.gov/28214165/

  8. Chiara D, Giana I, Masnada S, Manuela F,Marco S, Andrea A, et al., 2020. AicardiSyndrome: Key Fetal MRI Features andPrenatal Differential Diagnosis.Neuropediatrics, 51(04), pp.276-285.

  9. Tuft M, Østby Y, Nakken KO, Lund C.Aicardi syndrome and cognitive abilities:Síndrome de Aicardi. Revista Homeostasis. 5(2)A report of five cases. Epilepsy &Behavior [Internet]. 2017 Aug [citado el20 de Mayo de 2021];73:161–5.Disponible en:https://pubmed.ncbi.nlm.nih.gov/28641168/

  10. Moudgil K. Corpus Callosum Agenesiswith Chorioretinal Abnormality (AicardiSyndrome): An Educational Review -Pharmacophore [Internet].Pharmacophorejournal.com. 2020 [citadoel 20 de mayo de 2021]. Available from:https://pharmacophorejournal.com/en/article/corpus-callosum-agenesis-withchorioretinal-abnormality-aicardisyndrome-an-educational-review

  11. Bernstock J, Olsen H, Segar D, Huang K,Kappel A, Essayed W et al. CorpusCallosotomy for Refractory Epilepsy inAicardi Syndrome: Case Report andFocused Review of the Literature. 2020.




2020     |     www.medigraphic.com