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Disproportionate enlargement of the occipital horns of the lateral ventricles in association with partial or complete agenesis of the corpus callosum.


First described in 1946 by P.I. Yakovlev and R.C. Wadsworth.

Approximately 40 cases have been described. Some cases are thought to be X-linked or autosomal dominant inherited with incomplete penetrance. Colpocephaly has been associated with trisomy 8 mosaicism and trisomy 9 mosaicism, Toxoplasma gondii infection during pregnancy, and maternal ingestion of ethanol, oral contraceptive medications, and other medications during pregnancy.

The main feature is an enlargement of the occipital horns of the lateral ventricles with partial or complete agenesis of the corpus callosum. Normally, the densely packed axons of the corpus callosum help stabilize the lateral ventricles. In partial or complete agenesis of the corpus callosum, this support for the lateral ventricles is missing, particularly in the posterior areas, where enlargement of the dorsal horns is characteristic. This finding is pronounced if the cingulum is hypoplastic or aplastic, which is typically the case in colpocephaly. Common symptoms include learning disabilities, seizures, and motor and visual abnormalities. It may be associated with other anomalies, such as microcephaly, micrognathia, lissencephaly, cerebellar atrophy, pachygyria, microgyria and macrogyria, Pierre Robin Syndrome, neurofibromatosis, optic nerve hypoplasia, chorioretinal coloboma, cleft palate, and myelomeningocele. Mental retardation, seizures, and motor and visual abnormalities may be present.

Considerations should mainly focus on associated disorders because colpocephaly per se should not significantly affect the anesthetic management. The main concern is airway management. Chronic antiepileptic treatment may interfere with the metabolism and elimination of anesthetic drugs.

Cerullo A, Marini C, Cevoli S, et al: Colpocephaly in two siblings: Further evidence of a genetic transmission. Dev Med Child Neurol 42:280, 2000.  [PubMed: 10795569]
Yakovlev PI, Wadsworth RC: Schizencephalies: A study of the congenital clefts in the cerebral mantle. I. Clefts with fused lips. J Neuropathol Exp Neurol 5:116, 1946.

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