Septo-optic dysplasia as a manifestation of valproic acid embryopathy
1Section of Reproductive Genetics, Department of Obstetrics and Gynecology, Northwestern University, Chicago, IL 60611, USA.
Insights
Valproic acid exposure during pregnancy can cause birth defects. This study reports the first case of septo-optic dysplasia linked to prenatal valproic acid, expanding knowledge of valproate embryopathy.
Area of Science:
- Neurology
- Teratology
- Developmental Biology
Background:
- Valproic acid use in pregnancy is linked to adverse fetal outcomes like congenital malformations and neural tube defects.
- Optic nerve hypoplasia is known with prenatal anticonvulsant exposure, but septo-optic dysplasia has not been previously reported.
- Valproate embryopathy encompasses a range of developmental abnormalities.
Observation:
- A pregnant woman with a seizure disorder was treated with valproic acid (Depakote) throughout her pregnancy.
- The infant exhibited facial features characteristic of valproic acid embryopathy.
- Magnetic Resonance Imaging (MRI) revealed optic chiasm hypoplasia and absence of the septum pellucidum.
Findings:
- This case presents the first documented instance of septo-optic dysplasia in an infant exposed to valproic acid in utero.
- The observed features included bitemporal narrowing, hypertelorism, short palpebral fissures, epicanthal folds, microphthalmia, a flat broad nasal bridge, small mouth, hypoplastic nails, mild clinodactyly, and camptodactyly.
- MRI confirmed hypoplasia of the optic chiasm and absence of the septum pellucidum, consistent with septo-optic dysplasia.
Implications:
- This finding expands the known spectrum of clinical manifestations associated with valproate embryopathy.
- It highlights the importance of considering septo-optic dysplasia in infants exposed prenatally to valproic acid.
- Further research is warranted to understand the specific mechanisms linking valproic acid to septo-optic dysplasia.
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.
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