Aicardi Syndrome (AS) is a rare X-linked congenital disorder traditionally characterized by a triad of dysgenesis of corpus callosum, seizures, and chorioretinal abnormalities. Patients often have severe psychomotor delay and shortened life expectancy. However, Aicardi syndrome is a clinically heterogeneous disorder. We present a case of a 14-year-old with the traditional triad of history of infantile spasm, complete agenesis of the corpus callosum, and chorioretinal abnormality but with peripapillary staphyloma and with no psychomotor delays. Based on the review of literature, this is the first reported case of AS in the Philippines, the first reported case of AS with peripapillary staphyloma, and is one of the 3 reported cases of AS with normal psychomotor development. There remains no factor that can prognosticate cognitive function in AS at present including genetic testing.

We report a case of an otherwise healthy 23-month-old boy who presented with nystagmus, head shaking, and abnormal head posture suggestive of spasmus nutans. Neuro-ophthalmologic exam revealed bilateral, low-amplitude, high-frequency, horizontal, disconjugate nystagmus that was more prominent in one eye along with head shaking and a head tilt or face turn. The rest of the exam and the systemic physical examination were normal. Magnetic resonance imaging of the brain did not disclose optic pathway glioma, which has been reported to cause spasmus nutans-like disease. Electroretinogram (ERG) was also recommended to rule out occult retinopathies. However, it was not done due to unavailability of the appropriate corneal electrode for his age. Instead, close follow-up was advised to monitor spontaneous improvement or resolution, or until the child comes of age that he can undergo ERG. This case highlights the management approach and rationale of patients with presumed spasmus nutans. Recognition of the triad of spasmus nutans allows for quick diagnosis and more focused and efficient investigation.
pathologic nystagmus ; infantile spasms

No abstract available.
Infant ; Infant, Newborn ; Spasms, Infantile*

No abstract available.
Infant ; Infant, Newborn ; Spasms, Infantile*

No abstract availabe.
Infant ; Infant, Newborn ; Spasms, Infantile*

Humans ; Infant ; Spasms, Infantile ; therapy

No abstract available.
Infant ; Infant, Newborn ; Lissencephaly* ; Spasms, Infantile*

No abstract available.
Humans ; Infant ; Infant* ; Infant, Newborn ; Spasms, Infantile*

No abstract available.
Adrenocorticotropic Hormone* ; Infant ; Infant, Newborn ; Spasms, Infantile*

Child ; Humans ; Infant ; Spasms, Infantile ; genetics ; Syndrome