Hernández-Arriaga P, Luna-Macías VB, Zamudio-Martínez A, Zamudio-Martínez G, Rizo-Jiménez A

Language: Spanish
References: 16
Page: 45-49
PDF size: 610.11 Kb.

ABSTRACT

Aicardi syndrome is characterized by the triad of agenesis of the corpus callosum, infantile spasms, and chorioretinal lagoons. It is a rare disorder, with unknown etiology, although an X chromosome mutation is suspected as it only occurs in women. We present the case of a 6-year-old female patient who started in the first month of life with convulsive seizures of infantile spasms. The physical exam reported spastic quadriparesis and bilateral chorioretinal lagoons in the retina. An MRI of the brain was performed finding total agenesis of the corpus callosum and frontal polymicrogyria, with these findings the Aicardi Syndrome was integrated. The prognosis of this entity is serious, with high morbidity and mortality, so they must be managed by a multidisciplinary team to limit physical and intellectual disability.

REFERENCES

1. Lund C, Bjørnvold M, Tuft M, Kostov H, Røsby O, Selmer KK. Aicardi syndrome: An epidemiologic and clinical study in Norway. Paediatr Neurol. 2015;52(2):182–6.

2. Wong BKY, Sutton VR. Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination. Am J Med Genet. 2018;178(4):423–31.

3. Fernandez-Ramos JA, Lopez-Laso E, Simon- De las Heras R, Camino-Leon R, Guerra- Garcia P, Camacho-Salas A, et al. Sindrome de Aicardi: Estudio retrospectivo de una serie de siete casos. Rev Neurol . 2013;57:481–8.

4. Aicardi J. Aicardi syndrome. Brain Dev. 2005;27:164–71.

5. Rosser T. Aicardi Syndrome. Arch Neurol. 2003;60:1471–3.

6. Sutton VR, Van den Veyver IB. Aicardi Syndrome. Adam MP, Adringer H, Pagon R, et. al., editors. Gene Reviews. Seattle (WA): GeneReviews® ; 2006.

7. Hopkins B, Sutton R, Lewis R, Van den Veyer I, Clark G. Neuroimaging Aspects of Aicardi Syndrome. Am J Med Genet. 2008;14(22):2871–8.

8. González K, Rodríguez R, Ochoa E, Cervantes R, Rodríguez I, Martínez L, et al. Síndrome de Aicardi en un neonato: reporte de un caso. Med Univ. 2007;9(36):146–50.

9. Galdós M, Martinez R, Prats J. Síndrome De Aicardi : Variabilidad Fenotípica Y Factores Pronósticos. Arch Soc Esp Oftalmol. 2008;83:29–35.

10. Paramdeep S, Jatinder G, Kavita S, Archana A. Aicardi syndrome. Singapore Med J. 2012;53(7):164–71.

11. Tuft M, Østby Y, Nakken KO, Lund C. Aicardi syndrome and cognitive abilities: Areportof five cases. Epileps y Behav. 2017;73:161–5.

12. Anderson S, Menten B, Kogelenberg M Von, Robertson S, Waginger M, Mentzel HJ, et al. Aicardi syndrome in a male patient. Neuropediatrics. 2009;40:39–42.

13. Wang X, Sutton R, Eble T, Lewis A, Gunaratne P, Patel A, et al. A Genome-Wide Screen for Copy Number Alterations in Aicardi Syndrome Xiaoling. Am J Med Genet A. 2009;10:997–1003.

14. Wong BKY, Sutton VR, Lewis RA, Van den Veyver IB. Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients. Mol Genet Genomic Med. 2017;5(2):117–21.

15. Pires CR, Araujo E, Czapkowski A, Zanforlin S. Aicardi syndrome: Neonatal diagnosis by means of transfontanellar ultrasound. World J Radiol. 2014;6(7):511–4.

16. Gacio S, Lescano S. Foetal magnetic resonance images of two cases of aicardi syndrome. J Clin Diagnostic Res. 2017;11(7):7–9.