Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections

Autosomal recessive forms of infantile dystonia due to mutations in the tyrosine hydroxylase (TH) gene have been described recently, The main clinical manifestations are Segawa's disease, or infantile hypokinetic rigid Parkinsonism, Here, we report on it patient with hyperrigidity, psychomotor developmental delay, and dystonic posturing of the hands, symptoms that appeared after a viral infection at the age of 14 months, Low homovanillic acid/5-hydroxyindolacetic acid (HVA/ 5HIAA) ratio in cerebrospinal fluid suggested a TH deficiency. Molecular analysis revealed it novel (H246Y) and a known (D498G) compound heterozygote mutation in the TH gene. The patient showed it remarkable response to treatment with levodopa, The new mutation and the association of viral infections with the onset and worsening of symptoms are discussed, (c) 2005 Movement Disorder Society.