González TKE, Rodríguez BR, Ochoa CEC, Cervantes FR, Rodríguez BI, Martínez de VLE, Esmer SM

Idioma: Español
Referencias bibliográficas: 23
Paginas: 146-150
Archivo PDF: 193.89 Kb.

RESUMEN

Se informa el caso de un recién nacido de sexo femenino que padecía microftalmia derecha, microcórnea, coloboma del iris, crisis convulsivas, agenesia de cuerpo calloso, hidrocefalia no activa y quiste interhemisférico supratentorial. Su electroencefalograma mostró anormalidades y pobre organización de la actividad de base.

REFERENCIAS (EN ESTE ARTÍCULO)

1. Aicardi J, Lefebvre J, Lerique-Koechlin A. A new syndrome: spams in flexion, callosal agenesis, ocular abnormalities. Electroenceph Clin Neurophysiol 1965;19:609-10.

2. Aicardi J, Chevrie JJ, Rousselie F. Spasma-in-flexion syndrome, callosal agenesis, chorioretinal abnormalities. Arch Fr Pediatrics 1969;26:1103-20.

3. Aicardi J. Aicardi syndrome. Brain Dev 2005;27:164-71.

4. Chau V, Karvelas G, Jacob P, Carmant L. Early treatment of Aicardi syndrome with vigabratina can improve outcome. Neurology 2004;63:1756-7.

5. Fariello RG, Chun RW, Doro JM, Buncic JR, et al. EEG recognition of Aicardi’s syndrome. Arch Neurol 1977;34:563-6.

6. Ohtsuki H, Haebara H, Takahashi K, Midorikawa O, et al. Aicardi’s syndrome–report of an autopsy case. Neuropediatrics 1981;12:279-86.

7. Glasmancher MAK, Sutton VR, Hopkins BJ, Eble TN, et al. Phenotype and management of Aicardi syndrome: new findings from a survey of 75 children. Am J Med Genet 2005; 42:789-92.

8. Hopkins IJ, Humphrey I, Keith CG, Susman M, et al. The Aicardi syndrome in a 47, XXY male. Aust Paediatr J 1979;15:278-80.

9. Matlary A, Prescott T, Tvedt B, Lindberg K, et al. Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG. Clin Dysmorphol 2004;13:257-60.

10. Yacoub M, Missaoui N, Tabarli B, Ghorbel M, et al. Aicardi syndrome with favorable outcome. Arch Pediatr 2003;10: 530-2.

11. Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, et al. Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. Am J Med Genet 1989;32:461-7.

12. Del Pero RA, Mets MB, Tripathi RC, Torczynski E. Anomalies of retinal architecture in Aicardi syndrome. Arch Ophthalmol 1986;104:1659-64.

13. Menezes AV, Enzenauer RW, Buncic JR. Aicardi syndrome–the elusive mild case. Br J Ophthalmol 1994;78:494-6.

14. Menezes AV, MacGregor DL, Buncic JR. Aicardi syndrome: natural history and possible predictors of severity. Pediatr Neurol 1994;11:313-8.

15. Aguiar MD, Cavalcanti M, Barbosa H, Vilela SL, et al. Aicardi syndrome and choroid plexus papilloma: a rare association. Case report. Arq Neuropsiquiatr 1996;54:313-7.

16. Uchiyama CM, Carey CM, Cherny WB, Brockmeyer DL, et al. Choroid plexus papilloma and cysts in the Aicardi syndrome: case reports. Pediatr Neurosurg 1997;27:100-4.

17. Taggard DA, Menezes AH. Three choroids plexus papillomas in a patient with Aicardi syndrome. A case report. Pediatr Neurosurg 2000;33:219-23.

18. Pianetti Filho G, Fonseca LF, Da Silva MC. Choroid plexus papilloma and Aicardi syndrome: case report. Arq Neuropsiquiatr 2002;60:1008-10.

19. Tanaka T, Takakura H, Takashima S, Kodama T, et al. A rare case of Aicardi syndrome with severe brain malformation and hepatoblastoma. Brain Dev 1985;7:507-12.

20. Tagawa T, Mimaki T, Ono J, Tanaka J, et al. Aicardi syndrome associated with an embryonal carcinoma. Pediatr Neurol 1989;5:45-7.

21. Tsao CY, Sommer A, Hamoudi AB. Aicardi syndrome, metastatic angiosarcoma of the leg, and scalp lipoma. Am J Med Genet 1993;45:594-6.

22. Trifiletti RR, Incorpora G, Polizzi A, Cocuzza MD, et al. Aicardi syndrome with multiple tumors: a case report with literature review. Brain Dev 1995;17:283-5.

23. King AM, Bowen DI, Goulding P, Doran RM. Aicardi syndrome. Br J Ophthalmol 1998;82:457.