期刊
JOURNAL OF CHILD NEUROLOGY
卷 26, 期 2, 页码 179-187出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073810377014
关键词
tyrosine hydroxylase deficiency; dopa-responsive dystonia; cerebrospinal fluid neurotransmitters; children
资金
- Italian Women's Association
- Australian Association of Hong Kong Limited
- Parthenon Trust
This study included 12 Chinese patients with a wide spectrum of phenotypes of tyrosine hydroxylase deficiency. Seven females and 5 males, aged 2.2 to 41 years, had phenotypes ranging from severe type with onset at infancy to mild type with onset after 3 years of age. Patients with the severe type had encephalopathy with poor treatment response or infantile parkinsonism with motor delay. Patients with the less common mild type had dopa-responsive dystonia or a newly recognized predominant symptom of myopathy. Female siblings had more severe phenotypes. The phenotype and treatment outcomes were strongly related to a homovanillic acid level and homovanillic acid/5-hydroxyindolacetic acid ratio of less than 1 in the cerebrospinal fluid. Hyperprolactinemia was found in 50% of the severe cases. Levodopa was the mainstay of treatment, and early addition of selegiline resulted in a remarkable response in some patients. Treatment response for mild-type patients is universally good even with a treatment delay of 10 years after onset of neurological symptoms.
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