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Infant with severe penicillamine embryopathy born to a woman with Wilson disease

R Pinter1, W A Hogge, E McPherson

  • 1Department of Genetics, Magee-Women's Hospital, Pittsburgh, Pennsylvania, USA. rpinter@mail.magee.edu

American Journal of Medical Genetics. Part A
|June 25, 2004
PubMed

Insights

D-penicillamine (DP) exposure during pregnancy can cause rare congenital abnormalities, including cutis laxa and developmental delays. Prenatal monitoring of maternal copper and zinc may aid management in Wilson disease patients.

Area of Science:

  • Medical Genetics
  • Teratology
  • Pediatric Neurology

Background:

  • Wilson disease (WD) management during pregnancy necessitates careful consideration of medication safety.
  • D-penicillamine (DP) is a chelating agent used for WD, but its teratogenic potential is a concern.

Observation:

  • A case of a male infant born with congenital diffuse cutis laxa, severe micrognathia, limb contractures, and central nervous system abnormalities, including agenesis of the corpus callosum.
  • The infant's mother was treated with D-penicillamine throughout her pregnancy for Wilson disease.

Findings:

  • The infant exhibited a severe phenotype, including chronic lung disease, profound developmental delays, and probable cortical blindness.
  • While the infant's cutis laxa resolved postnatally, the overall outcome was poor.

Implications:

  • This case highlights the potential for D-penicillamine embryopathy, a rare but severe complication.
  • Prenatal assessment of maternal copper and zinc levels may be beneficial for managing pregnant women with Wilson disease on D-penicillamine.
  • Further research is needed to elucidate the exact mechanisms and risk factors associated with D-penicillamine embryopathy.

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