[Case of dentatorubral-pallidoluysian atrophy with onset of psychomotor retardation in infancy].

We report a patient with dentatorubral-pallidoluysian atrophy (DRPLA). She developed normally until the age of 6 month, when she could sit by herself. However, her psychomotor development was subsequently slow with gradual appearance of equilibrium disturbances and involuntary movements such as polymyoclonia and chorea.

Paradoxical eyelid movement in trisomy 2p.

Paradoxical eyelid movement was reported in a 12-year-old female with 46,XX,dup(2)(p25.3p22.2).