A case of sporadic non-progressive chorea is reported in a 6 year-old girl from Hospital Sant Joan de Deu, Barcelona University and other centers in Spain and The Netherlands. At age 21 months she was diagnosed with severe motor delay and gait disorder. Birth and perinatal history including screening test for hypothyroidism were normal. A diagnosis of subclinical hypothyroidism was made at 2 years of age and she was treated with oral L-thyroxine. Language and learning skills have been age appropriate. At 3 years of age she was hypotonic, reflexes were normal, but her gait was unstable, clumsy, and wide-based, with frequent, sudden falls. Choreiform movements were generalized, affecting the mouth, limbs, and trunk, and were not progressive. A TITF-1 de novo gene mutation test was positive. Levodopa therapy started at age 3 years 6 months controlled the chorea. When therapy was temporarily interrupted after 1 year, symptoms recurred with frequent falls and clumsy gait. Discontinuation of therapy slowly after 3 years of treatment was successful without relapse. [1]

COMMENT. A novel nonsense mutation in the TITF-1 gene is published simultaneously with the above case report in a Japanese family with benign hereditary chorea [2]. The proband showed severe generalized chorea, delayed motor development, subnormal intelligence, congenital hypothyroidism, bronchial asthma, and a history of pulmonary infection. These characteristics are features of Brain-Thyroid-Lung syndrome. Her brother and mother showed a mild benign hereditary chorea phenotype with congenital hypothyroidism. It is suggested that therapy with levodopa may compensate for underdeveloped dopaminergic pathways in this disorder.

Pathological findings in an autopsied Japanese adult with benign hereditary chorea 2 and hypotonia that presented at age 40 years showed mild degeneration of the striatum and cerebral white matter with astrocytosis. Non-progressive symptoms of chorea and hypotonia had persisted until the patient’s death at 83 years [3].