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.
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
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.