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 a 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 a novel (H246Y) and a known (D498G) compound heterozygote mutation in the TH gene. The patient showed a remarkable response to treatment with levodopa. The new mutation and the association of viral infections with the onset and worsening of symptoms are discussed.
Diepold
Katharina
K
Department of Pediatrics, Division of Neuropediatrics, University of Göttingen, 37099 Göttingen, Germany.
Schütz
Barbara
B
Rostasy
Kevin
K
Wilken
Bernd
B
Hougaard
Pia
P
Güttler
Flemming
F
Romstad
Anne
A
Birk Møller
Lisbeth
L
D000818:Animals; D000978:Antiparkinson Agents / Q000627:therapeutic use*; D020805:Central Nervous System Viral Diseases; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006639:Histidine / Q000235:genetics; D006719:Homovanillic Acid / Q000134:cerebrospinal fluid; D006801:Humans; D006897:Hydroxyindoleacetic Acid / Q000134:cerebrospinal fluid; D007980:Levodopa / Q000627:therapeutic use*; D051379:Mice; D009154:Mutation; D020734:Parkinsonian Disorders / Q000188:drug therapy* / Q000235:genetics / Q000821:virology; D051381:Rats; D016896:Treatment Outcome; D014443:Tyrosine / Q000235:genetics; D014446:Tyrosine 3-Monooxygenase / Q000235:genetics*
D000978:Antiparkinson Agents; D014443:Tyrosine; D007980:Levodopa; D006639:Histidine; D006897:Hydroxyindoleacetic Acid; D014446:Tyrosine 3-Monooxygenase; D006719:Homovanillic Acid