Abstract
Aicardi syndrome was first described by Aicardi in 1965. No aetiology explains all the manifestations of Aicardi syndrome. A rigorous search for Microbiological and Serological and CSF examination for embryopathic infection should be carried out in each case. Cystogenetic study during intrauterine life can be used as diagnostic tool during 5th month of pregnancy. The prognosis is uniformly poor but can be improved upon if ANC (Antenatal Care) diagnosis is undertaken.

Introduction

Aicardi Syndrome was first described by Jean Dennis Aicardi, a French Neurologist in 1965 which consisted of infantile spasms, agenesis of the corpus callosum, a characteristic lacunar chorioretinopathy. Later Dennis and Bower described it in 1972. Patients with Aicardi syndrome have variable abnormalities and was recognised as an entity distinct from congenital infection. This syndrome is an X linked dominant disorder lethal to male except one male case was reported in Australia. Often it is first recognised during neonatal period and infancy. Less severely affected individuals may live into childhood and adolescence and the diagnosis may be delayed.1 The history of Aicardi syndrome is often as trend of abnormalities namely seizures, visual abnormalities or developmental delay. EEG (Electroencephalogram) finding are not consistent.

Most patients have moderate to severe mental retardation. This character is probably due to brain dysgenesis and intractable epilepsy. These patients are unable to walk and lack even rudimentary abilities to interact with their environment. However certain malignancies occur more frequently.

Case Report

We report a case of female, with poor vision in both eyes seizures, blindness of vision, dull.
O/E- Vision Both eyes less than 6/60.

Anterior segment : Normal
Pupils : Equal and Reacting sluggish to light
Fundus : Both Eyes Mild disc Pallor, Lacunar Chorioretinal patches, Optic disc Coloboma (Figs. 1 and 2).
Right divergent squint with poor fixation
Fields : non co-operative

H/O Consanguineous Marriage
CT scan findings

1. There is evidence of Corpus Callosal Hypoplasia/Agenesis
2. There is enlargement of the Ventricular Trigones and the Temporal Horns, Probably due to Displastic nature of the Ventricles.
3. There is loss of Cortex in the medial Temporal Lobe on both sides of ?Significance.
4. A small incidental Arachnoid Cyst is noted at the anterior edge of the left Tentorium.

EEG finding were inconsistent even though the patient suffered from multiple types of seizures.

A diagnosis of Aicardi syndrome was done on the above mentioned findings.

Figs. 1 and 2 : Shows lacunar choroidal retinopathy, disc and choroidal coloboma, disc pallor

Discussion

No aetiology explains all the manifestation of Aicardi syndrome. It has been suggested a neural tube over distension during embryogenesis at 4-8 week gestation. In our patient there was no cause known to contribute to the syndrome except for nervous system dysgenesis which is considered as a crytogenic cause for refractory seizures. Since this syndrome has resemblance of congenital infection, a rigorous search for microbiological and serological evidence of embryopathic infection should be carried out in each case, especially CMV IgM IgG antibodies and CSF lymphocytosis and interferon, which will provide a prenatal diagnosis of callosum agenesis, viral infection could be responsible for agenesis of brain.²

However isolated cases of agenesis have been reported in males but without any syndrome.³ In the literature there is mention of intractable seizures in Aicardi syndrome which will lead to more damage and enhancement of atrophy which contribute to severe ocular pathology, however this could be controlled by ACTH which also reduces the inflammation indirectly. Ocular finding of Aicardi syndrome would be pathognomonic even before callosal agenesis was shown on CT scan or vertebral anomalies by X-ray examination.⁴ Dimness of vision and dullness in Aicardi syndrome could be due to hypoplasia of optic nerve and bilateral cerebral hemispheres.^5,8

In this syndrome there can be chromosomal breakage within Aicardi Locus.⁶ There is a defect in cell mediated immunity in Aicardi syndrome which contribute to autoimmune reaction which further enhance the progress of disease in the neonatal peroid and viral infection can be contributing cause.

Hence the patient of Aicardi syndrome can be prevented from further agenesis of nervous system provided the cell mediated immunity (CMI) is intact during intrauterine life⁷ which will prevent viral, protozoal infection which causes difficulty in differentiation from congenital infection.

One should investigate with respect to cytogenetic mapping⁹ of chromosome and good visual function in patients of Aicardi syndrome can be anticipated if the fovea is normal and the presence of small chorioretinal lacunae may indicate a better prognosis for mobility and language development.¹⁰

The prognosis is uniformly poor but can be improved upon if cytogenetic study is done during 5th month of pregnancy.¹¹

1. Wang JH, Roan CD, et al. Aicardi syndrome - a case report. Zhanghua Yl Xue Za Zhi (Taipei) 1989; 43 (2) : 135.
2. Darin N Bergstrom T. Fast a clinical serological and PCR evidence of cytomegalovirus infection in the central nervous system in infancy and childhood. Neuropediatrics 1994; 25 (6) : 316-22.
3. Tolmie JL, Shillito P, Hughes-Benzle R. The Aicardie-Goutier’s syndrome (familial early onset encephalopathy with calcifications of basal ganglia and chronic cerebrospinal fluid Lymphocytosis). J Med Genet 1995; 32 (11 : 881-4.
4. Mayer UM. Ocular finding in Aicardi syndrome. Klin Manatsbi Augenheilkd 1987; 191 (4) : 304-6.
5. Ropers HH, Zuffardi O, et al. Agenesis of corpus callosum, ocular and skeletal anomalies (X-linked dominant Aicardis syndrome) in a girl with balanced X 13 translocation. Hum Genet 1982; 61 (4) : 364-8.
6. Musemeci E, Baciocco A, et al. Aicardi syndrome with a cell mediated defect. Minerva Pediat 1981; 31-33 (2 : 95-9.
7. Willis J Rosman NP. The Aicardi syndrome versus congenital infection diagnostic considerations. J Pediat 1980; 96 (2) : 235-9.
8. Hamano K Matsubra T, et al. Aicardi syndrome accompanied be auditory disturbance and multiple brain tumours. Brain Dev 1991; 13 (6) : 438-41.
9. Hamano S Yagishita S, et al. Aicardi syndrome postmortem findings. Paediat Neurol 1989; 5 (4) : 259-1.
10. Menees AV, Lewis TL, Bunicia JR. Role of ocular involvement in the prediction of visual development and clinical prognosis in Aicardi syndrome. Br J Opthalmol 1996; 80 (9) : 805-11.
11. Vergani P, Ghidini A, et al. Prognostic indications in the prenatal diagnosis of agenesis of corpus callosum. Am J Obstel Gynaecol 1994; 170 (3) : 753-8.

*Hon. Ophthalmologist; **Research Associate, Holy Family Hospital, Bandra, Mumbai - 400 050. +Prof. and Head of Pathology Department CMPH Med College, Vile Parle, Mumbai 400 056 and Prof. of Immunology, Mumbai University.