Aicardi"s Syndrome

Philippe Jeanty, MD, PhD Sandra Silva, MD

Updated 2006-01-18 by Juliana Leite, MD

Original text 1999-06-17 Philippe Jeanty, MD, PhD & Sandra R Silva, MD

Synonyms: None

Definition: Neurodegenerative disorder inducing cerebral atrophy, intracerebral calcification of the basal ganglia, a chronic cerebrospinal fluid lymphocytosis and negative serological investigations for common prenatal infections (1). It is associated to a developmental arrest, agenesis of the corpus callosum, chorioretinal lacunae, infantile spasm and physical handicaps.

Incidence: Over 100 cases reported.

Etiology: Autosomal recessive inheritance or possibly an X-linked dominant disorder that occurs de novo in female and it is lethal in the hemizygous male (1). It is genetically heterogeneous with almost 50% of families mapping to the first known locus at 3p21 (AGS1). Another linkage to a second AGS locus (AGS2) at chromosome 13q14-21(1) exists as well as at least, one further locus (1).

Pathogenesis: May result from a perturbation of interferon alpha metabolism (1).

Sonographic findings: Micro-ophtalmia, choroid plexus cysts, choroids plexus papilloma, Dandy Walker malformation and dysgenesis of the corpus callosum can be recognized prenatal. Calossal agenesis is complete in 72% and partial in 28% of the cases. Infrequently this syndrome has been associated with cleft lip and palate.

Implications for targeted examinations:

  • cerebral anomalies (like calcifications, cerebral cyst and a high riding third ventricle characteristic of agenesis of the corpus callosum) with ultrasound and/or cerebral MRI
  • female fetus
  • investigate the possibility of parental consanguinity
  • increase of interferon-alpha level in the fetal blood and cerebrospinal fluid
  • exclude an infectious etiology

Differential diagnosis: Dysgenesis of the corpus callosum

Prognosis: Poor, with most infants dying during the first few years. Those that survive are profoundly mentally retarded later.

Recurrence risk: It is sporadic in nature and affects only females.

Management: Termination of pregnancy can be offered before viability. Standard prenatal care is not altered when continuation of the pregnancy is opted for. Confirmation of diagnosis after birth is important for genetic counseling.

1. Ali M, Highet LJ, Lacombe D, et al. A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21. J Med Genet 2005 May 20
2. Bromley B, Krishnamoorth KS, Benacerraf BR. Aicardi syndrome: prenatal sonographic findings. A report of two cases. Prenat Diagn 2000:20:344-346
3. Le Garrec M, Doret M, Pasquier JC, et al.; Prenatal diagno

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