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

被引：32

作者：

Nardocci, N

Zorzi, G

Blau, N

Alvarez, EF

Sesta, M

Angelini, L

Pannacci, M

Invernizzi, F

Garavaglia, B

机构：

[1] Ist Nazl Neurol Carlo Besta, Dept Child Neurol, I-20133 Milan, Italy

[2] Ist Nazl Neurol Carlo Besta, Dept Biochem & Genet, I-20133 Milan, Italy

[3] Univ Zurich, Childrens Hosp, Div Clin Chem & Biochem, CH-8032 Zurich, Switzerland

[4] Hosp Sant Joan De Deu, Serv Neuropediat, Barcelona, Spain

[5] Osped Pediat 23, Dept Neurol, Bari, Italy

来源：

NEUROLOGY | 2003年 / 60卷 / 02期

关键词：

D O I：

10.1212/01.WNL.0000044049.99690.AD

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：335 / 337

页数：3

共 11 条

[1] Tetrahydrobiopterin deficiencies without hyperphenylalaninemia:: Diagnosis and genetics of DOPA-responsive dystonia and sepiapterin reductase deficiency [J].