Prenatal diagnosed cyst of the quadrigeminal cistern in Aicardi syndrome

Area of Science:

• Neurology
• Genetics
• Ophthalmology

Background:

• Aicardi syndrome is a rare, severe X-linked dominant disorder.
• It is defined by the triad of agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae.
• The syndrome has a poor prognosis, with significant developmental delays and reduced survival rates.

Observation:

• This report details a unique case of Aicardi syndrome.
• The patient presented with bilateral, small chorioretinal lacunae and infantile spasms with hypsarrhythmia.
• Additional findings included thoracic vertebral defects, absent 12th ribs, and a quadrigeminal cistern arachnoid cyst.

Findings:

• Crucially, this case exhibited the presence of the corpus callosum, deviating from the typical agenesis.
• Despite the unusual presentation and associated anomalies, the patient experienced a favorable outcome.
• This suggests a potential for variability in the clinical spectrum of Aicardi syndrome.

Implications:

• This case expands the understanding of Aicardi syndrome's phenotypic variability.
• It suggests that the presence of the corpus callosum does not exclude the diagnosis.
• Further research into genotype-phenotype correlations may refine diagnostic criteria and prognostic assessments.