CORTICAL DYSGENESIS IN A PATIENT WITH TURNER MOSAICISM

In a patient with Turner mosaicism who had mental retardation, epileps y and cerebellar ataxia, MRI showed cerebellar atrophy and a bizarre c ortical dysgenesis of the cerebrum, which was considered to comprise a mixture of relatively normal gyri and structures resembling pachygyri a and lissencephaly. The karyotype of the patient was 45,X/47,XXX, but the brain dysgenesis could not be explained solely on the basis of th is mosaicism, which is rarely associated with a gross abnormality in b rain pathology. Abnormality of the X chromosome seems to have some pot ential for inducing cortical dysgenesis, and this case may be partiall y attributable to an abnormal locus on the X chromosome.