Presentation1, radiological imaging of aicardi syndrome.

Health& Medicine

1. Radiological Imaging of Aicardi syndrome. Dr/ ABD ALLAH NAZEER. MD.

2. Aicardi syndrome: is described in 1961 by French Pediatrician Jean Francois Aicardi. Aicardi syndrome  is a rare severe developmental disorder. It results from an X-linked genetic defect that is fatal in males and therefore only manifests in females (except for rare 47-XXY cases). Clinical features The typical presentation in infancy is with a triad of: infantile spasms : salaam seizures with typical bowing of the head corpus callosal dysgenesis : most consistent feature distinctive  chorioretinal lacunae : pathognomonic Pathology Characteristic malformations affect the brain, spine and eyes and include:

3. Brain Agenesis of the corpus callosum Colpocephaly Grey matter heterotopia Asymmetry of cerebral hemispheres Posterior fossa abnormalities (95%), including  Dandy-Walker Continuum : Posterior fossa cyst Cerebellar hypoplasia Tectal enlargement Choroid plexus papilloma (CPP) C horoid plexus carcinoma (CPC) Polymicrogyria  (predominantly frontal and perisylvian) Intracranial cysts (diameters range between 1.0-5.0 cm) Midline inter hemispheric: 81% Intraventricular : 29% Parenchymal : 10% Extra-axial : 8%

4. Ocular Microphthalmia Coloboma Chonioretinopathy Chorioretinal lacunae Eyelid twitching Absent pupillary reflexes Funnel-shaped disks Spine Scoliosis Spina bifida Butterfly   or  block vertebrae Hemivertebrae abnormal costovertebral articulation.

5. Aicardi syndrome with Partial   agenesis of the corpus callosum, grey matter heterotopia  (best seen at the trigone of the left lateral ventricle) and abnormal gyration/polymicrogyria  (best seen involving the left frontal lobe). 

6. Aicardi syndrome with bilateral choroid plexus homogenously enhanced masses ( choroid plexus papilloma ) agenesis of the corpus callosum with parallel orientation of both lateral ventricular bodies interhemispheric cyst left globe retrobulbar fluid containing cyst with posterior globe defect ( coloboma )

7. T2-weighted axial images from six girls with Aicardi syndrome: All have gross cerebral asymmetry. Dashed circles indicate areas of polymicrogyria (PMG): 1A-C: perisylvian PMG with most extensive involvement in 1B; 1A and 1C show frontal PMG. The solid white arrows in 1A, 1C, and 1D point to single, nodular, periventricular heterotopias. The round marker in 1C points to confluent rows of periventricular heterotopias. Arrowheads point to subcortical heterotopias in the cerebellum (1E) and in the frontal regions (1F). Underdevelopment of the operculum is seen in figures 1A, 1B, and 1C. Asterisks point to a large posterior fossa cyst in 1B; a midline interhemispheric cyst in 1C and a left-occipital intraparenchymal cyst in 1F.

8. T1 weighted axial, sagittal, and coronal images from five girls with Aicardi syndrome3A and 3A 1  (from the same individual) show a multiloculated contrast-enhancing hyperintense cyst in the right lateral ventricle, resembling cysts associated with choroid plexus papillomas. 3B and 3C each illustrate a round hyperintense cyst in the right lateral ventricle and a midline/interhemispheric cyst with contrast enhancement in 3B (3C was a study without contrast). 3D shows a large interhemispheric cyst. 3E illustrates an extra-axial cyst in the posterior fossa (also seen in 1B) and an intraparenchymal cyst in the right cerebellar hemisphere.

9. Cerebellar and tectal abnormalities in Aicardi syndrome: All panels demonstrate inferior vermis hypoplasia. 4A and 4B show superior foliar prominence, 4B and 4C show large cisterna magna. 4A illustrates a normal sized tectum measuring 13 mm in length and 0.4 mm in width and 4B and 4C show tectal enlargement (3B = 16 mm × 7 mm and 3C = 15 mm × 6 mm).

10. Neuromyelitis optica in a child with Aicardi syndrome.

11. Microcephaly , polymicrogyria, porencephalic cysts and enlarged cerebral ventricles due to hydrocephalus are also common in Aicardi syndrome.

12. A 4-week-old boy with bilateral cephalhaematomas (patient 1). a Transcranial US: Coronal (left) and parasagittal (right) sections reveal moderate enlargement of the lateral ventricles with an arched intraventricular septum on the right side (short white arrows), diffuse hyperechogenicity of the periventricular white matter (arrowheads) and focal echodensities in the basal ganglia (long white arrows) strongly suggestive of a subependymal cyst, demyelination and calcifications, respectively. b Axial non-enhanced cranial CT through the basal ganglia (left) and directly above the third ventricle (right) at the age of 3 months shows enlargement of the ventricles, hypodensity of the frontal white matter,

13. Sagittal T1-weighted image shows absent corpus callosum, dilatation of the cerebello medullary cistern . cyst in the interhemispheric fissure and heterotopias along the outer wall of the left lateral ventricle, bilateral periventricular heterotopias, cortical dysplasia of the right frontal lobe and interhemispheric cysts.

14. Scoliosis in Children With Aicardi Syndrome.

15. Thank You.