Aicardi syndrome: postmortem findings.
A 2-month-old infant with the typical clinical features of Aicardi syndrome (i.e., infantile spasms, chorioretinal lacunae, and agenesis of the corpus callosum) is reported. At 5 years of age, pathologic examination revealed cortical heterotopias, rostral agenesis of the corpus callosum, hypoplasia of the unilateral optic nerve, and bilateral cerebellar hemispheres. Cavum septum pellucidum was present. A literature review of 5 autopsied patients with this syndrome is included.
Hamano
S
S
Division of Neurology; Saitama Children's Medical Center, Japan.
Yagishita
S
S
Kawakami
M
M
Ito
F
F
Maekawa
K
K
D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D012164:Retinal Diseases / Q000473:pathology; D013036:Spasms, Infantile / Q000473:pathology*