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Aicardi syndrome

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A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females & rarely in 47 XXY males. However Aicardi syndrome is now recognized as a more complex, pleiotropic disorder with an expanded spectrum of phenotypical features. The syndrome is named after Jean Aicardi[1]

  • Agenesis of the corpus callosum
  • Infantile spasms
  • Chorioretinal lacunae
  • Microcephaly, heterotopias
  • polymicrogyria
  • Cerebellar dysgenesis
  • Microphthalmia , coloboma
  • Costovertebral defects
  • Facial asymmetry
  • Intellectual disability
  • developmental delay
  • hypotonia
  • Focal seizures

Seizures

Infantile spasms are the most characteristic seizure type in Aicardi syndrome[2]. Most seizures appear early, at 3–4 months of age, and are often asymmetric or even unilateral. With increasing age, the seizure pattern evolves and focal seizures become more frequent[3]. EEG features include asynchronous multifocal epileptiform abnormalities with burst suppression and dissociation between the two hemispheres[4].

Chorioretinal lacunae

Retcam photo of right eye shows optic disc coloboma (black arrow) and dome shaped loci of pale areas with sharp borders nasal to the optic disc suggestive of chorio retinal lacunae (white arrows).

Central Chorioretinal lacunae (CRL) represent a defect of the pigment epithelium and choroid. CRL are pathognomonic for Aicardi syndrome and are seen in all patients (see figure[5]).They are well-defined, multifocal pale areas with minimally pigmented borders, and are usually found in the peripapillary area of the posterior pole. They do not change or evolve over time. CRL do not affect vision unless the central foveal area is involved.

Optic nerve anomalies are present in the majority of affected individuals, with coloboma being the most common. Other abnormalities include asymmetric microphthalmia, morning glory discs, abnormal retinal vessels and cysts and often result in significant visual impairment.

Aicardi syndrome is associated with distinctive facial features including prominent premaxilla, upturned nasal tip, decreased angle of the nasal bridge, and sparse lateral eyebrows.

Other abnormalities reported include hemivertebrae, block vertebrae, fused vertebrae, and missing, malformed or fused ribs[6] hand abnormalities including camptodactyly, proximal placement of the thumb, and hypoplasia of the fifth finger[7][8].

Sutton et al. (2005) proposed the following modified diagnostic criteria[8]:

  • The presence of all three classical features (classic triad) is diagnostic for Aicardi syndrome
  • The presence of two classical features in addition to at least two major or supporting features is strongly suggestive of a diagnosis of Aicardi syndrome

Nearly all reported cases of Aicardi syndrome are sporadic. The disorder is believed to result from new gene mutations. Aicardi syndrome is classified as an X-linked dominant condition[Credit:U.S National Library of Medicine.

Treatment

Prognosis

History


1. a Aicardi J, Lefebvre J, Lerique-Koechlin A. A new syndrome: spasms in flexion, callosal agenesis, ocular abnormalities. Electroencephalogr Clin Neurophysiol 1965;19:609-610
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 Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark G. Neuroimaging aspects of Aicardi  syndrome. Am J Med Genet A 2008 Nov 15;146A(22):2871–2878.      
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