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

Neurology. 2003 Jan 28;60(2):335-7. doi: 10.1212/01.wnl.0000044049.99690.ad.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Twin Study

MeSH terms

  • Adolescent
  • Antiparkinson Agents / therapeutic use*
  • Basal Ganglia Diseases / complications
  • Basal Ganglia Diseases / diagnosis
  • Basal Ganglia Diseases / drug therapy*
  • Basal Ganglia Diseases / enzymology
  • Carbidopa / therapeutic use
  • Dopamine Agents / therapeutic use
  • Dystonia / etiology
  • Female
  • Follow-Up Studies
  • GTP Cyclohydrolase / deficiency*
  • GTP Cyclohydrolase / genetics*
  • Genes, Recessive
  • Homozygote
  • Humans
  • Infant, Newborn
  • Infant, Newborn, Diseases / diagnosis
  • Infant, Newborn, Diseases / drug therapy
  • Infant, Newborn, Diseases / genetics
  • Levodopa / therapeutic use
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / drug therapy*
  • Muscle Rigidity / etiology
  • Mutation
  • Reflex, Abnormal / genetics
  • Remission Induction
  • Treatment Outcome
  • Tremor / etiology

Substances

  • Antiparkinson Agents
  • Dopamine Agents
  • Levodopa
  • GTP Cyclohydrolase
  • Carbidopa