Abstract
Aicardi syndrome (AS), originally described briefly in 1965 (Aicardi et al., 1965) and more fully in 1969 (Aicardi et al., 1969), is one of the well-defined syndromes that include agenesis of the corpus callosum as one of their major features (Chevrie and Aicardi, 1986). The syndrome consists of a triad, viz. callosal agenesis, chorioretinal ‘lacunae’, and infantile spasms. Agenesis of the corpus callosum may be partial or complete (Chevrie and Aicardi, 1986; Aicardi et al., 1987). ‘Chorioretinal lacunae’ appear as white or pinkish areas of retinal discoloration, usually rounded in shape and peripapillary in location. They are generally but not always bilateral. They are variably pigmented especially at their periphery and their appearance is quite different from that of chorioretinitis even though an infectious origin for the syndrome has been suggested (Willis and Rosman, 1980). Infantile spasms are frequently asymmetric and are associated on the EEG not with typical hypsarrhythmia but, characteristically, with a suppression-burst pattern with complete independence of paroxysmal bursts over both hemispheres, the so-called ‘split-brain’ EEG.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Aicardi J., 1980, The Aicardi syndrome in a male infant, J. Pediatr. 97: 1040–1041.
Aicardi J., 1986, “Epilepsy in Children,” Raven Press, New York.
Aicardi J., 1991, The agyria-pachygyria complex: a spectrum of cortical malformations, Brain Dey. 13: 1–8.
Aicardi J., Chevrie, JJ., and Baraton, J., 1987, Agenesis of the corpus callosum, in: “Handbook of Clinical Neurology,” Vol. 6, P.J. Vinken, G.W. Bruyn, and H. Klawaus, eds., North Holland, Amsterdam.
Aicardi, J., Chevrie, J.J., and Rousselie, F., 1969, Le syndrome agénésie calleuse, spasmes en flexion, lacunes choriorétiniennes, Arch. Fr. Pediatr. 26: 1103–1120.
Aicardi, J., Lefebvre, J., and Lerique-Koechlin, A., 1965, A new syndrome: spasms in flexion, callosal agenesis, ocular abnormalities, Electroencephalogr. Clin. Neurophysiol. 19: 609–610.
Al-Gazali, L.I., Mueller, R.F., Caine, A., et al., 1988, An XX male and two (X; Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3, J. Med. Genet. 25: 638–639.
Baien, P., Marki, A., Thelen, M., and Laub, M.C., 1988, MR imaging in Aicardi syndrome, AJNR 9: 805–806.
Barkovich, A. and Norman, D., 1988, Anomalies of the corpus callosum: correlation with further anomalies of the brain, AJNR 9: 493–501.
Billette, T., Robain, O., and Chiron, C., 1991, submitted, Agenesis of the corpus callosum associated with cortical dysplasia, Acta Neuropathol.
Bour, F., Chiron, C., Dulac, O., and Plouin, P., 1986, Caractères électrocliniques des crises dans le syndrome d’Aicardi, Rev. Encephalogr. Neurophysiol. Clin. 16: 341–353
Brihaye, L., Gillet, P., Parmentier, R. and Peetrons, A., 1956, Agénésie de la commissure calleuse, associée à un kyste épendymaire, Arch. Suisses Neurol. Neurochir. Psychiatr. 77: 415–431.
Chevrie, J.J. and Aicardi, J., 1986, The Aicardi syndrome. in: “Recent Advances in Epilepsy,” Vol. 3, T.A. Pedley and B.S. Meldrum, eds, Churchill Livingstone, Edinburgh.
Costa, T., Greer, W., Duckworth, Rysiecki, M., Musarella, M., and Ray, P., 1990, Monozygotic twins discordant for Aicardi syndrome, Abstracts of the 41st Annual Meeting of the American Society of Human Genetics, Am. J. Hum. Genetics 47 (Suppl. 3):A-53 (0202) 14. 5.
Curatolo, P., Libutti, G., and Dalla Piccola, B., 1980, Aicardi syndrome in a male infant, J. Pediatr. 96: 286–287.
Curves, J.T., Laster, D.W., Koubek, T.D., Moody, D.M., Ball, M.R., and Witkofski, R.L., 1986, MRI of corpus callosal syndromes, AJNR 7: 617–622.
De Jong, J.G.Y., Delleman, J.W., Houben, M., et al., 1976, Agenesis of the corpus callosum: infantile spasms, ocular anomalies (Aicardi s syndrome). Clinical and pathological findings, Neurology 26: 1152–1158.
Del Pero, R.A., Mets, M.B., Tripathi, R.C., and Torczynski, E., 1986, Anomalies of retinal architecture in Aicardi syndrome, Arch. Ophthalmol. 104: 1659–1664.
Donnenfeld, A.E., Graham, J.M., Packer, R.J., Aquino, R,. Berg, S.Z., and Emanuel, B.S., 1990, Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization, Am. J. Med. Genet. 37: 182–186.
Donnenfeld, A.E., Packer, R.J., Zackai, E.H., Chee, C.M., Sellinger, B., and Emmanuel, B.S., 1989, Clinical, cytogenetic and pedigree findings in 18 cases of Aicardi syndrome, Am. J. Med. Genet. 32: 461–467.
Ferrer, I., Cusi, M.V., Liarte, A., and Campistol, J., 1986, A Golgi study of the poly-microgyric cortex in Aicardi syndrome, Brain Dev. 8: 518–525.
Friedman, P.A., Rao, K.W., Jeplin, S.W., and Aylsworth, A.S., 1988, Provisional deletion mapping of the focal dermal hypoplasia (FDH) gene to Xp 22.31, Am. J. Human Genet. 43: A50.
Gobbi, G., Bruno, L., Pini, A. and Rossi, P.G., and Tassinari, C.A., 1987, Periodic spasms: an unclassified type of epileptic seizure in childhood, Dev. Med. Child Neurol. 29: 766–775.
Hall-Craggs, M.A., Harbord, M.G., Finn, J.P., Brett, E., and Kendall, B.E., 1990, Aicardi syndrome: MR assessment of brain structure and myelination, AJNR 11: 532–536.
Hamano, S.I., Yagishita, S., Kawakami, M., et al., 1985, Aicardi syndrome: postmortem findings, Pediatr. Neurol. 5: 259–261.
Hopkins, I.J., Humphrey, I., Keith, C.G., Susman, M., Webb, G.C., and Turner, E.K., 1979, The Aicardi syndrome in a 47,XXY male, Aust. Paediatr. J. 15: 278–280.
Horita, H., Kumagai, K., Maekawa, K. and Endo, S., 1980, Overnight polygraphic study of agenesis of the corpus callosum with seizures resembling infantile spasms, Brain Dev. 2: 379–386.
Hunter, A.G.W., 1980, Aicardi syndrome in a male infant, J. Pediatr. 97: 1041.
Igidbashian, V., Mahboubi, S., and Zimmerman, R.A., 1987, CT and MR findings in Aicardi syndrome, J. Comp. Ass. Tomogr. 11: 357–358.
Insley, J., Goodfellow, P.G., and Hulten, M., 1988, An XX male and two (X; Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3., J. Med. Genet. 25: 638–639.
Jeret, J.S., Serum, D., Wisniewski, K., and Fisch, C., 1986, Frequency of agenesis of the corpus callosum in the developmentally disabled population as determined by computerized tomography, Pediatr. Neurosci. 12: 101–103.
Jeret, J.S., Serur, D., Wisniewski, K.E., and Lubin, R.A., 1987, Clinicopathological findings associated with agenesis of the corpus callosum, Brain Dev. 9: 255–264.
Lyon, M.F., 1966, X chromosome inactivation in mammals, Adv. Teratol, 1: 25–54.
McMahon, R.G., Bell, R.A., Moore, R.W., and Ludwin, S.K., 1984, Aicardi syndrome. A clinicopathologic study, Arch. Ophthalmol. 102: 250–253.
Migeon, B.R., Axelman, J., De Beur, S.J., Valle, D., Mitchell, G.A., and Rosenbaum, KN., 1989, Selection against lethal alleles in females heterozygous for incontinentia pigmenti, Am. J. Hum. Genet. 44: 100–106.
Molina, J.A., Mateos, F., Merino, M., Epifanio, J.L., and Gorrono, M., 1989, Aicardi syndrome in two sisters, J. Pediatr. 115: 282–283.
Moreno, J.A., Lartigau, M.T., Etcheverria, L., et al., 1986, Sindrome de Aicardi. Presentacion de cuatro casos nuevos y nuevas anomalias asociadas, Ann. Esp. Pediatr. 24: 53–58.
Neidich, J.A., Nussbaum, R.L., Packer, R.J., Emanuel, B.S., and Puck, J.M., 1990, Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome, J. Pediatr. 116: 911–917.
Nielsen, K.B., Anvret, M., Flodmark, B., et al., 1991 Aicardi syndrome. Early neuroradiological manifestations and results of DNA studies in one patient, Am. J. Hum. Genet. 38: 65–68.
Ohtsuki, H., Haebara, H., Takahashi, K. et al., 1981, Aicardi’s syndrome: report of an autopsy case, Neuropediatrics 12: 279–286.
Raynor, M. and Raynor, D., 1990, The Aicardi syndrome survey, Aicardi Syndrome Newsletter.
Roland, E.H., Flodmark, O. and Hill, A., 1989, Neurosonographic features of Aicardi syndrome, J. Child. Neurol. 4: 307–310.
Ropers, H.H., Zuffardi, O., Biancai, E., and Tiepolo, L., 1982, Agenesis of corpus callosum, ocular and skeletal anomalies (X-linked dominant Aicardi’s syndrome) in a girl with balanced X/3 translocation, Hum. Genet. 61: 364–368.
Sato, N., Matsuishi, T., Utsunomiya, H., et al., 1987, Aicardi syndrome with holoprosencephaly and cleft lip and palate, Pediatr. Neurol. 3: 114–116.
Tagawa, T., Mimaki, T., Ono, J., et al., 1989, Aicardi syndrome associated with embryonal carcinoma, Pediatr. Neurol. 5: 45–47.
Tanaka, T., Thkahura, FL, Takashima, S., Kodama, T., and Hasegawa, H., 1985, A rare case of Aicardi syndrome with severe brain malformation and hepatoblastoma, Brain Dey. 7: 507–512.
Wieacker, P., Zimmer, J., and Ropers, H.H., 1985, X-inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance, Clin. Genet. 28: 238–242.
Willis, J. and Rosman, N.P., 1980, The Aicardi syndrome versus congenital infection: diagnostic considerations, J. Pediatr. 96: 235–239.
Yamagata, T., Momoi, M., Miyamoto, S., Kobayashi, S., and Kamoshita, S., 1990, Multi-institutional survey of the Aicardi syndrome in Japan, Brain Dey. 12: 760–765.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1994 Plenum Press, New York
About this chapter
Cite this chapter
Aicardi, J., Chevrie, JJ. (1994). The Aicardi Syndrome. In: Lassonde, M., Jeeves, M.A. (eds) Callosal Agenesis. Advances in Behavioral Biology, vol 42. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-0487-6_2
Download citation
DOI: https://doi.org/10.1007/978-1-4613-0487-6_2
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4612-7592-3
Online ISBN: 978-1-4613-0487-6
eBook Packages: Springer Book Archive