CENTRAL-NERVOUS-SYSTEM ABNORMALITIES IN CHROMOSOME DELETION AT 11Q23

Two Japanese pediatric patients with terminal deletion of the long arm of chromosome 11 are described. Both had the morphological abnormalit ies of the 11q deletion syndrome, such as prominent epicanthal folds, broad flat nasal bridge with short, upturned nose, short philtrum with carp-shaped mouth, cardiac anomalies and nonprogressive moderate psyc homotor developmental delay. Patient 1 is the first case to be reporte d with 11q deletion with serial magnetic resonance (MR) examinations o f cerebral white matter. The initial MR imaging studies demonstrated m ultiple areas of T1 and T2 prolongation in the cerebral white matter i n both patients at the ages of 2 5/12 and 2 1/12 years, respectively. A second MR imaging, performed 1 year after the first in Patient 1, de monstrated slight improvement of the lesions. Neither patient showed c linical deterioration. These results suggest that the lesions were cau sed by delayed myelination, rather than by demyelination. It is sugges ted that an unknown factor which is important for myelination is locat ed on the long arm of chromosome 11: perhaps the neural cell adhesion molecule (NCAM).