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An unusual presentation of tyrosine hydroxylase deficiency.

Linn E KatusSteven J Frucht
Published in: Journal of clinical movement disorders (2017)
TH deficiency can cause a broad range of clinical symptoms and severity. As more cases are discovered, the phenotype expands. Here we describe a unique case of DRD and possible parkinsonism due to TH deficiency with residual symptoms of dystonia that was task dependent and responded to a sensory trick. In addition, while the history is limited, it is possible he may have had episodes similar to "lethargy-irritability crises" seen in more severe cases. In large part he fits within the milder form of TH hydroxylase deficiency.
Keyphrases
  • replacement therapy
  • early onset
  • deep brain stimulation
  • sleep quality
  • drug induced
  • parkinson disease
  • smoking cessation