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Aicardi syndrome: postmortem findings.

S Hamano¹, S Yagishita, M Kawakami

¹Division of Neurology; Saitama Children's Medical Center, Japan.

Pediatric Neurology

|July 1, 1989

Summary

This summary is machine-generated.

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This case report details a 2-month-old infant diagnosed with Aicardi syndrome, characterized by infantile spasms and brain abnormalities. Autopsy at 5 years confirmed cortical heterotopias and agenesis of the corpus callosum.

Area of Science:

Neurology
Pediatrics
Genetics

Background:

Aicardi syndrome is a rare genetic disorder primarily affecting females, characterized by a triad of infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae.
Early diagnosis and understanding of the full spectrum of Aicardi syndrome are crucial for patient management and prognosis.

Observation:

A case of Aicardi syndrome in a 2-month-old infant presenting with typical clinical features including infantile spasms, chorioretinal lacunae, and agenesis of the corpus callosum.
Pathologic examination at 5 years of age revealed additional findings such as cortical heterotopias, unilateral optic nerve hypoplasia, and bilateral cerebellar hemispheres.
The presence of cavum septum pellucidum was also noted in this patient.

Findings:

The autopsy confirmed extensive central nervous system malformations consistent with Aicardi syndrome, including agenesis of the corpus callosum and cortical heterotopias.

Related Experiment Videos

The case highlights the variability in presentation and the importance of detailed neuropathologic examination for a comprehensive understanding of the syndrome.

A review of 5 previously autopsied cases of Aicardi syndrome is included for comparative analysis.

Implications:

This detailed case report contributes to the understanding of the neuropathologic spectrum of Aicardi syndrome.
The findings underscore the need for thorough neuroimaging and pathological evaluation in suspected cases of Aicardi syndrome.
Further research into the genetic and developmental mechanisms underlying Aicardi syndrome is warranted to improve diagnostic and therapeutic strategies.