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[Aicardi syndrome: a case report].

C K Lin¹, R K Tsai, Y J Jong

¹Department of Ophthalmology, Kaohsiung Medical College, Taiwan, Republic of China.

Gaoxiong Yi Xue Ke Xue Za Zhi = the Kaohsiung Journal of Medical Sciences

|December 1, 1992

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Aicardi syndrome, a rare genetic disorder, was diagnosed in a young girl with infantile spasms and agenesis of the corpus callosum. Ocular findings included bilateral disc colobomas and pigment changes, highlighting key ophthalmologic manifestations.

Area of Science:

Neurology
Ophthalmology
Medical Genetics

Background:

Aicardi syndrome is a rare, severe neurodevelopmental disorder primarily affecting females.
It is characterized by a triad of agenesis of the corpus callosum, infantile spasms, and characteristic retinal abnormalities.
Early diagnosis is crucial for management and prognosis.

Observation:

A 5-year-old female presented with a history of infantile spasms since 3 months of age.
Cranial computerized tomography confirmed agenesis of the corpus callosum.
Ophthalmologic examination revealed bilateral optic disc colobomas and lacunar pigmentary changes in the right eye.

Findings:

The patient's clinical presentation, including neurological and ophthalmological findings, was consistent with a diagnosis of Aicardi syndrome.

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The specific ocular manifestations observed are typical, though variable, features of this syndrome.

This case underscores the importance of comprehensive ophthalmological evaluation in suspected cases of Aicardi syndrome.

Implications:

Understanding the spectrum of ophthalmologic manifestations is vital for accurate diagnosis and patient management.
Further research into the genetic and molecular basis of Aicardi syndrome may lead to targeted therapies.
This case contributes to the literature on the phenotypic variability of Aicardi syndrome, particularly its ocular features.