Corpus callosum dysgenesis and colpocephaly

Abstract

We present the case of T.F., a 28-year-old woman diagnosed with corpus callosum dysgenesis and colpocephaly. The diagnosis is based on cerebral imaging – magnetic resonance imaging (MRI) and computerised tomography (CT).

Colpocephaly in an adult: A rare case report

“…In recent times, cases with concurrent agenesis of the corpus callosum have been diagnosed prenatally using antenatal MRI [12] . The estimated prevalence of corpus callosum agenesis in the general population is 3-7 per 1000 births, as compared to 2-3 per 100 births in children with developmental abnormalities [1] . In current literature, all adults with colpocephaly were noted to have concurrent partial or complete agenesis of the corpus callosum, except for 3 cases.…”

“…Postulated etiologies include abnormal neuronal migration or white matter formation arrest during fetal development [1 , 3] , intrauterine infections, maternal toxin exposure, and perinatal ischemic encephalopathy [3] . Some patients have been noted to have a past medical history of infections such as congenital toxoplasmosis [9] and meningococcal meningitis [1] . Colpocephaly has also been associated with genetic abnormalities, namely trisomy 8 and 9 [10] .…”

“…Apart from abnormalities of the corpus callosum, other associated malformations include microcephaly, myelocele, macrogyria, microgyria, schizencephaly, lissencephaly, cerebellar atrophy, optic nerve atrophy, Chiari malformation, periventricular leukomalacia, and enlargement of the cisterna magna [1 , 3 , 9 , 10 , 13] . In 1941, Benda reported the young patient's autopsy findings, namely agenesis of the corpus callosum, dilated lateral ventricles, thin and undifferentiated occipital lobes, and microgyria [7] .…”

“…Colpocephaly is the disproportionate enlargement of the occipital horns of the lateral ventricles [1] , [2] , [3] , [4] . It is a congenital brain abnormality and is most often associated with partial or complete agenesis of the corpus callosum [1 , 5] .…”

“…Colpocephaly is the disproportionate enlargement of the occipital horns of the lateral ventricles [1] , [2] , [3] , [4] . It is a congenital brain abnormality and is most often associated with partial or complete agenesis of the corpus callosum [1 , 5] . It is typically diagnosed in early childhood as most patients present with severely delayed developmental milestones, seizures, visual abnormalities, and other neurological disorders [4] , [5] , [6] .…”