ASD, Anophthalmia and Aicardi Syndrome
Abstract
Aicardi syndrome is a rare genetic disorder, X linked dominant; the syndrome is almost exclusively seen in females. It is characterized by classic triad of agenesis of corpus collosum, infantile spasm, and chorioretinal lacune. We report a case of this rare disorder, two and half month old female child who presented with frequent episodes of seizures and multiple congenital anomalies. Examination revealed microcephaly, anophthalmia, cleft lip and palate and atrial septal defect (ASD). MRI revealed agenesis of corpus callosum and dilated ventricular system. In this paper we present a case of Aicardi Syndrome associated with anophthalmia and ASD which were not reported before. She was put on clonazepam and was having a good seizure control.
References
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4. Steffensen TS, Gilbert-Barness E. et al cerebellar migration defect in Aicardi syndrome an extension of the neurophathological spectrum. Fetal pediatr pathol. 2009; 28(1) : 24-38
5. Hopkins B, Sutton VR,Lewis R A,Van den Veyver I, Clark G. Neuroimaging aspects of Aicardi syndrome. Am J med Genet A. Nov 15 2008;146 A (22):2871-8.
6. Lees, Kim Ks. An Atypical case of Aicardi syndrome with favorable outcome. Korean J ophthalmol 2004;17:79-83.
7. Glenn OA, Barkovich J-Magnetic resonance imaging of the fetal brain and spine.an increasingly important tool in prenatal diagnosis, Part 2 AJNRAN J Neuroradial 2006;27:1807-14.
8. Benerjee TK, et al. Aicardi syndrome: A report of five Indian cases. Neurol India 2006; 54 : 91-3
9. Carney SH, BrodskyMC, et al. Aicardi syndrome: More than meet the eye. Surv ophthalmolo 1993; 37: 419-24
10. Parag K, et al. Aicardi Syndrome: The importance of ophthalmologist in its diagnosis. Indian J ophthalmol: 2009: 57: 234-236
11. Aicardi J. Aicardi syndrome. Brain Dev 2005; 27:164-71.
2. Denis J, BOWER BD, Aicardi syndrome. Dev Med child neurol. j 1972; 14(3) : 362-90
3. Aicardi. J, int pediatr. 1998; 14(1) : 5.8
4. Steffensen TS, Gilbert-Barness E. et al cerebellar migration defect in Aicardi syndrome an extension of the neurophathological spectrum. Fetal pediatr pathol. 2009; 28(1) : 24-38
5. Hopkins B, Sutton VR,Lewis R A,Van den Veyver I, Clark G. Neuroimaging aspects of Aicardi syndrome. Am J med Genet A. Nov 15 2008;146 A (22):2871-8.
6. Lees, Kim Ks. An Atypical case of Aicardi syndrome with favorable outcome. Korean J ophthalmol 2004;17:79-83.
7. Glenn OA, Barkovich J-Magnetic resonance imaging of the fetal brain and spine.an increasingly important tool in prenatal diagnosis, Part 2 AJNRAN J Neuroradial 2006;27:1807-14.
8. Benerjee TK, et al. Aicardi syndrome: A report of five Indian cases. Neurol India 2006; 54 : 91-3
9. Carney SH, BrodskyMC, et al. Aicardi syndrome: More than meet the eye. Surv ophthalmolo 1993; 37: 419-24
10. Parag K, et al. Aicardi Syndrome: The importance of ophthalmologist in its diagnosis. Indian J ophthalmol: 2009: 57: 234-236
11. Aicardi J. Aicardi syndrome. Brain Dev 2005; 27:164-71.
Published
2013-01-01
How to Cite
GADALLA, Yousif M.; TAHA, Elmuntasir.
ASD, Anophthalmia and Aicardi Syndrome.
Gezira Journal of Health Sciences, [S.l.], v. 9, n. 1, jan. 2013.
ISSN 1810-5386. Available at: <http://37.60.236.48/index.php/gjhs/article/view/358>. Date accessed: 03 june 2026.
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