Fig. 2.

Examples of MRI abnormalities in the brains of 49,XXXXY patients. A) Focal white matter abnormalities, subcortical location (white arrow) and periventricular location (black arrow). This patient also has plagiocephaly. White matter lesions occurred in 7 of 14 patients, but were rare in the normal controls (one lesion was found in one normal control). Subcortical location was more common than periventricular location. More lesions were located on the left than on the right. The number of lesions was highly variable, ranging from 7 to more than 50. B) Confluent white matter abnormalities (circle). This finding was present in 1 patient. C) Prominent ventricles and colpocephaly. Ventricles were prominent in 4 patients. All had only a mild degree of prominence; the case shown was the most prominent. Colpocephaly among the patients ranged from minimal to moderate; none were severe and none were associated with any degree of agenesis of the corpus callosum. D) Periventricular cyst (arrow) and unilateral colpocephaly (circle). E) Colpocephaly and plagiocephaly. F) Unusually large, clustered perivascular spaces (circles). 3 patients demonstrated this unusual pattern of perivascular spaces, which was not seen at all in the normal controls.