ANGELMAN AND PRADER-WILLI SYNDROME - A MAGNETIC-RESONANCE-IMAGING STUDY OF DIFFERENCES IN CEREBRAL STRUCTURE

Recent improvements in magnetic resonance imaging techniques now allow the developing brain to be visualized in sufficient detail to perform ''in vivo neuropathology.'' In this study we compared the cortical morphology in six children with Angelman and four with Prader-Willi syndrome. These two syndromes are of especial interest because, although they are both caused by deletions in the same region of chromosome 15, Angelman children are far more severely affected, and do not speak. We measured the length of the banks of the Sylvian fissure in a gapless series of thin sagittal images. Angelman children had a significantly larger proportion (75%) of anomalous fissures than the Prader-Willi children (12%). Anomalous cortical growth could result from mistimed expression and recognition of macromolecules involved in axonal guidance, target recognition, and pruning. We hypothesize that misrouting of long projection axons may be related to the Sylvian fissure anomalies and the language disorder in Angelman syndrome.