Sjogren-Larsson syndrome.

A 9-year-old boy with classical features of Sjogren-Larsson syndrome was reported. He had had diffuse dry skin with ichthyotic scales since birth. The skin biopsy was compatible with ichthyosis. At the age of two he was unable to walk normally and also had learning problems. Neurological examination revealed spastic paraparesis, macular degeneration and mild mental retardation. MRI of the brain and spinal cord revealed subcortical white matter and corpus callosal lesions as well as focal cerebral atrophy and diffuse spinal cord atrophy.

Segawa disease.

A 14-year-old girl with Segawa disease is reported. The dystonic movement began at the age of three and slow progressive deterioration followed. The girl became bed-ridden and required assistance for all activities of daily living. Diurnal fluctuation and sleep benefit was clearly observed. Inheritence appears to be autosomal dominant. A dramatic, immediate and sustained response to L-dopa therapy was noted. This disorder is a form of treatable dystonia in childhood and adolescence and it is recommended that patients in this age group with primary dystonia should be given a trial of low dose L-dopa even though they have a chronic course or severe disability.