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[Embryofetopathy due to valproate: a pathology only little known. Apropos of 4 cases]
M Espinasse1, S Manouvrier, O Boute
1Service de pédiatrie et génétique médicale, hôpital Claude-Huriez, Lille, France.
Insights
Sodium valproate use during pregnancy can cause birth defects, including facial abnormalities and developmental delays. Pregnant women, especially those with epilepsy, must be informed about these teratogenic risks.
Area of Science:
- Teratology
- Developmental Pediatrics
- Pharmacology
Background:
- Sodium valproate is an antiepileptic drug with known teratogenic potential.
- Pregnancy exposure to sodium valproate is linked to congenital anomalies such as neural tube defects, heart abnormalities, and facial dysmorphisms.
- Awareness of these risks among the general population and healthcare providers remains suboptimal.
Observation:
- A case series involving four children, three of whom were siblings, presented with a constellation of symptoms.
- Observed abnormalities included characteristic facial dysmorphia, oral clefting, intellectual disability, and forearm/hand bone anomalies.
- Diagnosis of fetal valproate syndrome was delayed, identified in one sibling at 3.5 years of age.
Findings:
- The study highlights a cluster of birth defects consistent with fetal valproate syndrome in siblings exposed to maternal sodium valproate.
- Delayed diagnosis underscores the need for increased clinical suspicion in infants with characteristic dysmorphic features and developmental issues.
- Non-adherence to preventative advice for subsequent pregnancies indicates a gap in patient education and management.
Implications:
- Epileptic mothers on sodium valproate require comprehensive counseling regarding the teratogenic risks to the fetus.
- Enhanced awareness and early recognition of fetal valproate syndrome are crucial for timely intervention and management.
- This case series emphasizes the critical need for informed decision-making and adherence to preventative strategies in pregnancies exposed to teratogenic medications.
Background:
Sodium valproate administration during pregnancy may be teratogenic; it is associated with an increased risk of neural tube defect, tetralogy of Fallot, oral clefting and other facial abnormalities. Knowledge of these harmful effects is still poor.
Case Reports:
Four children, including three siblings, presented with characteristic facial abnormalities (four cases), oral clefting (one case), mental retardation (2/2 cases), and bone anomalies of forearm and hands (one case). The diagnosis of fetal valproate syndrome was only made at the age of 3 1/2 years in the eldest of the three siblings all born from an epileptic mother receiving valproate since the age of 13 years. Prevention advice for further pregnancies was not followed.
Conclusion:
All epileptic mothers should be aware of the risk of antiepileptic drugs during pregnancy, specially those given sodium valproate, a potentially teratogenic drug.