Contribution of magnetic resonance imaging to the knowledge of CNS malformations related to chromosomal aberrations

Summary Twelve patients presenting with various clinicopathological syndromes related to chromosomal diseases have been evaluated using magnetic resonance imaging. They include patients with trisomy 21, trisomy 18, trisomy 13, 4p-syndrome, 5p-syndrome, and 7p-syndrome. In all these patients karyotype studies were performed demonstrating the chromosomal aberrations. All patients were examined using magnetic resonance imaging to evaluate the head and neck malformations which may be specifically associated with their chromosomal anomaly. We were particularly interested in brain abnormalities and the morphological findings correlated with some pathologic anatomical findings. A review of the literature on neuropathological data is reported and compared with the in vivo anatomical results obtained using this highly anatomical non-ionising and non-invasive investigative procedure. Particular interest is paid to trisomy 21 in which all recognizable stereotyped morphological skull and brain malformations are depicted with magnetic resonance and some other malformations demonstrated such as the excessive forward bending and ascension of the brainstem which correlated well with a simian cephalic organization.