Identify the syndrome and describe the features in this picture. and hit helpful if it's helping u.....:)



Aicardi syndrome salient features 1. infantile spasms 2. agenesis of corpus callosum 3. modified hypsarrthymia on EEG 4.tilted optic disc with multiple depigmented chorioretinal lacunae clustered around the disc Systemic associations: vertbral anomalies (fused vertebrae or scoliosis) Coastal malformation(absent rib or fused ribs) Severe mental retardation can be seen usually X linked recessive pattern of inheritance

Aicardi syndrome, thought to be inherited as an X-linked dominant disorder, consists of agenesis of corpus callosum, infantile spasms, and abnormal eye structure. This disorder is an extremely rare congenital disorder in which frequent seizures, striking abnormalities of the eye’s middle coat (choroid) and retinal layers, and the absence of the structure linking the two cerebral hemispheres (the corpus callosum), accompany severe mental retardation. Only females are affected

The fundus shows tilted optic disc , attenuated vessels and patches of chorioretinal atrophy...brain pic shows absence of corpus most probably Aicardi syndrome , a congenital disorder

Neha Mehrotra


Cotton wool spots. Check for DM, as DM and hypertension are the two most common diseases that cause these spots, and the best treatment would be to treat the underlying disease. In diabetes they are one of the hallmarks of pre-proliferative retinopathy. More rarely, HIV and Purtscher's retinopathy can also lead to the appearance of cotton wool spots. Another condition in which cotton wool spots are found is central retinal vein occlusion.

Aicardi syndrome is d most likely diagnosis.A similar case came to us and was 1 yr female.she had extensive chorioretinal involvement with corpus callosal agenesis n cardiomegaly.

Dr naresh,, wonderful cases there,, you have posted


Central retinal artery occlusion with cotton wool spots ..

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Diseases Related to Discussion

Retinal Artery Occlusion
Tuberous Sclerosis
Vertebral Anomalies
Central Retinal Vein Occlusion
Retinal Vein Occlusion
Aicardi Syndrome
Central Retinal Artery Occlusion
Hypertensive Retinopathy