A clinician's approach to brain malformations

Abstract

Malformations of cortical development (MCD) constitute a group of brain disorders which are mainly genetic in origin. MCD form an important cause of cerebral palsy, intellectual disability and refractory epilepsy. Despite considerable progress which has been facilitated by advances in the fields of neuroimaging and genetics, the high degree of phenotypic and genotypic heterogeneity associated with MCD continues to hamper etiological diagnosis and cousneling of numerous patients and families. The first section of this manuscript is a plea for detailed clinical phenotyping in MCD and reviews the differential diagnosis and clinical work-up based on six clinical case reports. The second part provides a review of personal highlights in the field of MCD-research, and ends with an outlook to the joint efforts of international and interdisciplinary collaborations, which will hopefully result in better care for patients with MCD and their families.