Third Ventriculostomy in a Case of Benign Aicardi Syndrome with Obstructive Hydrocephalus

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Neurosurgery

Case description

Aicardi syndrome (AS) is a rare neurogenetic disease, clinically diagnosed in most cases by the classic triad of agenesis of the corpus callosum, infantile spasms and chorioretinal lacunes. It is a dominant genetic disorder linked to the X chromosome that affects mostly females with fatal outcome in patients diagnosed as male in the cases reported in the literature reviewed in the last 7 years.

Approximately 408 cases have been reported worldwide to date, although the prevalence is believed to be in the thousands. Suspicion is based on clinical manifestations and radiological images of the central nervous system, usually between 3 and 5 months of age, with reports up to adulthood. There are very few reports of cases with a benign clinical course in the literature.

One of the first benign cases was reported in 2008 and showed low ocular morbidity, absence of epilepsy and neuronal migration, as well as adequate psychomotor development.

It must be differentiated from Aicardi-Goutieres Syndrome, which is characterized by early-onset encephalopathy unrelated to intellectual or physical disability associated with calcification of the basal ganglia.


tags: corpus callosum hydrocephalus Obstructive Hydrocephalus

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