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Neurology 2003;60:335-337
© 2003 American Academy of Neurology
Brief Communications

Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency

N. Nardocci, MD, G. Zorzi, MD, N. Blau, PhD, E. Fernandez Alvarez, MD, M. Sesta, MD, L. Angelini, MD, M. Pannacci, PhD, F. Invernizzi, PhD and B. Garavaglia, PhD

From the Departments of Child Neurology (Drs. Nardocci, Zorzi, and Angelini), and Biochemistry and Genetics (Drs. Pannacci, Invernizzi, and Garavaglia), Istituto Nazionale Neurologico "Carlo Besta," Milan, Italy; the Division of Clinical Chemistry and Biochemistry (Dr. Blau), University Children’s Hospital, Zurich, Switzerland; Servicio de Neuropediatrìa (Dr. Fernandez Alvarez), Hospital Sant Joan de Déu, Barcellona, Spain; and the Department of Neurology (Dr. Sesta), Ospedale Pediatrico XXIII Bari, Italy.

Address correspondence and reprint requests to Dr. Nardo Nardocci, Department of Child Neurology, Istituto Nazionale Neurologico "Carlo Besta," Via Celoria 11, 20133 Milan, Italy; e-mail: nnardocci{at}istituto-besta.it

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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