6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment.

Submicroscopic deletion of the 6p subtelomere has recently been recognized as a clinically identifiable syndrome. A distinct phenotype has emerged consisting of developmental delay/mental retardation, language impairment, hearing loss, and ophthalmologic, cardiac, and craniofacial abnormalities, including hypertelorism, midface hypoplasia, small nose, and high arched palate. We describe here a patient with 6p subtelomere deletion associated with congenital glaucoma, severe mental retardation, and growth impairment.

Serial changes of prefrontal lobe growth in the patients with benign childhood epilepsy with centrotemporal spikes presenting with cognitive impairments/behavioral problems.

Several studies have reported a higher incidence of learning and behavioral difficulties in association with frontal lobe dysfunctions in children with benign childhood epilepsy with centrotemporal spikes (BCECTS). We studied serial changes in frontal and prefrontal lobe volumes using three-dimensional magnetic resonance imaging in BCECTS with or without cognitive impairments and behavioral problems and evaluated correlations between prefrontal lobe growth and active seizure period. Serial changes in regional cerebral volumes were measured in two patients with cognitive impairments and behavioral problems (BCECTS(+)) and five patients without neuropsychiatric deficits (BCECTS(-)).