Septo-optic dysplasia as a manifestation of valproic acid embryopathy

Teratology. 2001 Aug;64(2):83-6. doi: 10.1002/tera.1049.

Abstract

Background: The use of valproic acid during pregnancy has been associated with adverse fetal outcomes, including major and minor congenital malformations, intrauterine growth retardation (IUGR), hyperbilirubinemia, hepatotoxicity, transient hyperglycemia, and fetal and neonatal distress. In addition, intrauterine exposure to valproic acid has been associated with an increased risk of central nervous system abnormalities, primarily neural tube defects. Optic nerve hypoplasia has been reported in association with other prenatal anticonvulsant exposures, but the occurrence of septo-optic dysplasia as a manifestation of valproic acid embryopathy has not been reported previously.

Results: We report on a woman who received Depakote (valproic acid) throughout her pregnancy for the treatment of a seizure disorder. The patient presented with features typical of valproic acid embryopathy, including bitemporal narrowing, hypertelorism, short palpebral fissures, epicanthal folds, microphthalmia, a flat broad nasal bridge, small mouth, hypoplastic nails, mild clinodactyly, and camptodactyly. MRI showed hypoplasia of the optic chiasm and absence of the septum pellucidum.

Conclusions: We report the first case of septo-optic dysplasia associated with maternal exposure to valproic acid throughout pregnancy. This case expands the clinical phenotype of valproate embryopathy.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Drug-Induced / diagnosis
  • Abnormalities, Drug-Induced / etiology*
  • Abnormalities, Multiple / chemically induced
  • Abnormalities, Multiple / diagnosis
  • Adolescent
  • Antimanic Agents / adverse effects*
  • Antimanic Agents / therapeutic use
  • Child, Preschool
  • Eye Abnormalities / chemically induced
  • Female
  • Humans
  • Infant, Newborn
  • Maternal-Fetal Exchange
  • Optic Chiasm / abnormalities*
  • Optic Chiasm / pathology
  • Pregnancy
  • Pregnancy Complications / drug therapy
  • Septum Pellucidum / abnormalities*
  • Septum Pellucidum / pathology
  • Valproic Acid / adverse effects*
  • Valproic Acid / therapeutic use

Substances

  • Antimanic Agents
  • Valproic Acid