FaCD Online Syndrome Fact Sheet

Last updated: 10 Feb 2011

Name: Aicardi syndrome

Mode of Inheritance: XLD

Genes

AIC#, mapped to Xp22

Tumor features

choroid plexus papilloma

Tumor features (possible)

angiosarcoma
colorectal polyps
gastric polyps
hepatoblastoma
lipoma
medulloblastoma
palate, benign teratoma of
parapharyngeal embryonal cell cancer

Non-tumor features

chorioretinal lacunae
cleft lip
cleft palate
corpus callosum agenesis
developmental delay/mental deficiency/mental retardation
facies, asymmetric
gross motor delay
plagiocephaly
rib anomalies
seizures
vertebral anomalies

Comment

Clinical hallmarks are infantile spasms, corpus callosal agenesis, chorioretinal abnormalities (lacunae) and severe psychomotor retardation. Other findings include plagiocephaly, facial asymmetry, cleft lip and palate and costovertebral anomalies. A number of tumors have been reported in association with Aicardi syndrome: choroid plexus papilloma is the most frequent tumor[5,6,10], medulloblastoma[7], gastric hyperplastic polyps[1], rectal polyp[1], soft palate benign teratoma[1], hepatoblastoma[4], parapharyngeal embryonal cell cancer[2], angiosarcoma[3,9] and scalp lipoma[3].

(P.S.: Not to be confused with Aicardi-Goutiéres syndrome)

Links

Aicardi Syndrome Foundation 18 1 08

References

[1] Trifiletti RR, Incorpora G, Polizzi A, Cocuzza MD, Bolan EA, Parano E. Aicardi syndrome with multiple tumors: a case report with literature review. Brain Dev 1995; 17:283-285.
[2] Tagawa T, Mimaki T, Ono J, Tanaka J, Imai K, Yabuuchi H. Aicardi syndrome associated with an embryonal carcinoma. Pediat Neurol 1989; 5(1):45-47.
[3] Tsao CY, Sommer A, Hamoudi AB. Aicardi syndrome, metastatic angiosarcoma of the leg, and scalp lipoma. Am J Med Genet 1993; 45:594-596.
[4] Tanaka T, Takakura H, Takashima S, Kodama T, Hasegawa H. A rare case of Aicardi syndrome with severe brain malformation and hepatoblastoma. Brain Dev 1985; 7:507-512.
[5] Robinow M, Johnson GF, Minella PA. Aicardi syndrome, papilloma of the choroid plexus, cleft lip, and cleft of the posterior palate. J Pediat 1984; 104(3):404-405.
[6] Frye RE, Polling JS, Ma LC. Choroid plexus papilloma expansion over 7 years in Aicardi syndrome. Journal of child neurology 2007; 22(4):484-7.
[7] Palmér L, Nordborg C, Steneryd K, Aman P, Kyllerman M. Large-cell medulloblastoma in Aicardi syndrome. Case report and literature review. Neuropediatrics 2004; 35(5):307-11.
[8] Kamien BA, Gabbett MT. Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration. Am J Med Genet A. 2009 Aug;149A(8):1850-2.
[9] Deyrup AT, Miettinen M, North PE, Khoury JD, Tighiouart M, Spunt SL, Parham DM, Shehata BM, Weiss SW. Pediatric cutaneous angiosarcomas: a clinicopathologic study of 10 cases.Am J Surg Pathol. 2011 Jan;35(1):70-5.
[10] Taggard DA, Menezes AH. Three choroid plexus papillomas in a patient with Aicardi syndrome. A case report.Pediatr Neurosurg. 2000 Oct;33(4):219-23.