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Neurology 2000;55:1926-1928
© 2000 American Academy of Neurology
Brief Communications

L-dopa–responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency

J. F. de Rijk–van Andel, MD, PhD;, F. J.M. Gabreëls, MD, PhD;, B. Geurtz;, G. C.H. Steenbergen–Spanjers;, L. P.W.J. van den Heuvel, PhD;, J. A.M. Smeitink, MD, PhD; and R. A. Wevers, PhD

From the Department of Neurology (Dr. de Rijk–van Andel), Ignatius Hospital Breda; Department of Child Neurology (Dr. Gabreëls), Laboratory of Pediatrics and Neurology (Drs. van den Heuvel and Wevers, and B. Geurtz and G.C.H. Steenbergen–Spanjers), and Department of Metabolic Diseases (Dr. Smeitink), University Medical Centre Nijmegen, the Netherlands.

Address correspondence and reprint requests to Dr. R.A. Wevers, University Medical Centre Nijmegen, 319 Laboratory of Pediatrics & Neurology, PO Box 9101, 6500 HB Nijmegen, the Netherlands; e-mail: r.wevers@ ckslkn.azn.nl

Tyrosine hydroxylase deficiency was confirmed biochemically and genetically in four unrelated Dutch patients. The patients have a hypokinetic-rigid parkinsonian syndrome with symptoms in early infancy (3 to 6 months of age). Only sporadic dystonic movements were seen. There was no diurnal fluctuation. All patients showed a rapid favorable response to low-dose L-dopa/carbidopa treatment. Motor performance improved but did not fully normalize. The patients have mild mental retardation.




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