Bilateral symmetrical low density areas in the striatum

A 10-year-old boy, who showed low density areas at bilateral striatal portion on brain CT, was reported. Characteristic clinical features were summarized as follows: 1. Onset in childhood (3 years old), 2. gait disturbance, dysarthria, involuntaly movement such as choreoathetosis and dystonia, 3. mild mental retardation (IQ 70), and 4. slowly progressive course over several years. Family history was unremarkable. His parents were not consanguineous. He was well until 3 years old, when he developed gait disturbance. At the age of 4, CT showed hypodensity lesions in the bilateral putamens, and right caudate was involved at 7, followed by bilateral caudate involvements at 10. Laboratory findings including blood lactate, pyruvate, serum copper, ceruloplasmin, aminoacids, urine and CSF catecholamines were within normal limits. TRH and thiamine therapies were ineffective L-dopa was slightly effective in movements, but symptoms were slowly progressive. We reviewed fourteen reported cases which were similar to our case in their onset, symptoms, clinical course and CT findings. Although the etiology was unknown, this case is possibly a new disease entity. (author)