Colpocephaly in two siblings: further evidence of a genetic transmission

Colpocephaly is an abnormal congenital enlargement of the occipital horns o f the lateral ventricles, which has typically been associated with learning disability, seizures, and motor and visual abnormalities. This study descr ibes familial colpocephaly in two siblings with different fathers in a Domi nican family, There were no other neurological problems in their relatives, Child 1 is 7-year-old girl, who has had partial epileptic seizures since 4 years of age. She attends a mainstream school. She has coloboma and chorio retinic atrophy in her right eye and a right microphthalmia, MRI revealed c olpocephaly and hypogenesis of the corpus callosum, Her brother, aged 2 yea rs 8 months showed a mild delay in speech acquisition. He has had three feb rile convulsions and two non-febrile tonic-clonic seizures since 6 months o f age, Neurological and ophthalmological examinations were normal. MRI docu mented colpocephaly with right occipital horn prevalence. There are only tw o literature reports of genetically transmitted colpocephaly hypothesised i n two identical twins and in two brothers, In the children in this study, a genetic basis for colpocephaly is confirmed. We hypothesised a maternal tr ansmission with X-linked or autosomal dominance with an incomplete penetran ce model of inheritance.