Septo-optic dysplasia as a manifestation of valproic acid embryopathy.
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.
McMahon
C L
CL
Section of Reproductive Genetics, Department of Obstetrics and Gynecology, Northwestern University, Chicago, IL 60611, USA.
Braddock
S R
SR
D000014:Abnormalities, Drug-Induced / Q000175:diagnosis / Q000209:etiology*; D000015:Abnormalities, Multiple / Q000139:chemically induced / Q000175:diagnosis; D000293:Adolescent; D018692:Antimanic Agents / Q000009:adverse effects* / Q000627:therapeutic use; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000139:chemically induced; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008431:Maternal-Fetal Exchange; D009897:Optic Chiasm / Q000002:abnormalities* / Q000473:pathology; D011247:Pregnancy; D011248:Pregnancy Complications / Q000188:drug therapy; D012688:Septum Pellucidum / Q000002:abnormalities* / Q000473:pathology; D014635:Valproic Acid / Q000009:adverse effects* / Q000627:therapeutic use
D018692:Antimanic Agents; D014635:Valproic Acid