[Aicardi syndrome with Dandy-Walker type malformation].

Area of Science:

• Neurology
• Genetics
• Developmental Biology

Background:

• Aicardi syndrome is a rare genetic disorder characterized by infantile spasms, corpus callosum agenesis, and ocular abnormalities.
• The syndrome is historically linked to X-linked dominant inheritance patterns.
• This report details a rare co-occurrence of Aicardi syndrome with Dandy-Walker malformation.

Observation:

• A female infant presented with Aicardi syndrome, including convulsions, optic nerve coloboma, and vertebral anomalies.
• Prenatal diagnosis indicated Dandy-Walker malformation; postnatal evaluation confirmed agenesis of the corpus callosum.
• Autopsy revealed hydrocephalus, choroid plexus papilloma, cerebellar hypoplasia, and agenesis of the corpus callosum and cerebellum.

Findings:

• This case presents a rare association between Aicardi syndrome and Dandy-Walker malformation.
• The observed corpus callosum hypoplasia/agenesis suggests a significant genetic component in the syndrome.
• Autopsy findings provide detailed neuropathological insights into the syndrome's manifestations.

Implications:

• Investigating genes related to neurodevelopment and organogenesis is crucial for understanding Aicardi syndrome's etiology.
• Accurate diagnosis is essential for determining prognosis, guiding management, and providing genetic counseling.
• This case expands the understanding of Aicardi syndrome's phenotypic variability and associated conditions.