Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency
1Department of Child Neurology, Istituto Nazionale Neurologico "Carlo Besta," Milan, Italy. nnardocci@istituto-besta.it
Neurology
|January 29, 2003
Abstract:
The authors report two twin sisters, age 15 years, with recessive GTP cyclohydrolase deficiency, who presented with neonatal onset of rigidity, tremor, and dystonia but with no other symptoms suggestive of a diffuse CNS involvement. The plasma phenylalanine levels were normal. Treatment with L-dopa/carbidopa, started at age 1 year, was associated with sustained recovery from all neurologic signs. The patients were homozygous for a new recessive mutation in the GHI gene.
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