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[Aicardi Syndrome With Dandy-Walker Type Malformation]
Agenesis of the corpus callosum: A little-known topic. CES Med. ISSN Corpus callosum is present only in placental mammals and is composed by approximately - million axons that connect left and right hemispheres. Dysgenesis of corpus callosum may be complete, known as agenesis of the corpus callosum, or partial, known as hypoplasia of the Corpus.
Dysgenesis of the corpus callosum may be complete agenesis or partial and represents an in utero developmental anomaly. It can be divided into:. A true estimate of incidence is difficult to establish as many isolated cases are asymptomatic. It may be as uncommon as , according to autopsy series 6.
Its classic triad consists of infantile spasms, partial or total agenesis of the corpus callosum and ocular disorders, such as chorioretinal lacunae. It has been posited that it is due to a mechanism involving X-linked dominant inheritance. Case report: We report the case of a full-term female, with no pathological familial history or parental consanguinity, with a prenatal diagnosis of Dandy-Walker type malformation, who presented convulsions, coloboma of the optic nerve, thoracic vertebral block with presence of scoliosis, transfontanellar ultrasound imaging showing agenesis of the corpus callosum and karyotype 46,XX. She was diagnosed with Aicardi syndrome and died at the age of one and a half months.