[Embryopathy due to valproic acid with severe malformations in the central nervous system]
J M Pardal-Fernández1, M C Carrascosa-Romero, M Rodríguez-Vázquez
1Servicio de Neurofisiología, Complejo Hospitalario Universitario de Albacete, Albacete, Spain. josempardal@yahoo.es
Insights
Valproic acid use during pregnancy can cause fetal valproate syndrome, a serious condition in newborns. This case highlights the link between maternal valproic acid treatment for epilepsy and specific embryopathy in an infant.
Area of Science:
- Neurology
- Teratology
- Developmental Biology
Context:
- Epilepsy management during pregnancy presents challenges due to potential teratogenic effects of antiepileptic drugs.
- Valproic acid is a commonly prescribed antiepileptic with known teratogenic properties, leading to fetal valproate syndrome.
- Identifying specific embryogenetic disorders linked to maternal medication is crucial for understanding developmental risks.
Purpose:
- To report a case of fetal valproate syndrome in a preterm infant.
- To investigate the association between maternal valproic acid monotherapy during gestation and observed embryopathy.
- To highlight the characteristic features of this specific embryopathy, including neurological and morphological abnormalities.
Summary:
- A preterm infant presented with facial dysmorphia, gingival hyperplasia, neurological hyperexcitability, and left temporal brain atrophy.
- The infant's mother was treated with valproic acid monotherapy throughout pregnancy for generalized idiopathic epilepsy.
- Metabolic, hereditary, and infectious causes for the observed embryopathy were ruled out, strengthening the link to valproate exposure.
Impact:
- This case reinforces the teratogenic potential of valproic acid and the importance of considering fetal valproate syndrome in infants born to mothers treated with this drug.
- The findings underscore the need for careful risk-benefit assessment when prescribing valproic acid during pregnancy.
- Further research into the specific mechanisms of valproate embryopathy and potential preventative strategies is warranted.
Introduction:
Embryogenetic disorders are one of the most serious problems in the life of an epileptic. Over the last few decades many antiepileptic drugs, including valproic acid, have been shown to have teratogenic properties. Embryopathy due to valproate, also known as fetal valproate syndrome, is a well-known and documented example of these conditions.
Case Report:
We report the case of a preterm newborn infant who, at birth, exhibited a syndrome characterised by facial dysmorphia, gingival hyperplasia, neurological hyperexcitability and multiple malformations, the most striking of which was the presence of predominantly temporal atrophy in the left brain hemisphere. The most significant event in the medical history of the case was the mother's taking valproate in monotherapy throughout the entire period of gestation as treatment for generalised idiopathic epilepsy that was diagnosed during adolescence. Screening precluded the most common metabolic, hereditary or infectious causes that can cause embryopathies.
Conclusions:
The mother's history of taking valproic acid and the specific findings that coincided in the peculiar embryopathy of this patient enabled us to link them.
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