Blepharoptosis and central nervous system abnormalities in combined valproate and hydantoin embryopathy

Area of Science:

• Developmental Pediatrics
• Clinical Neurology
• Teratology

Background:

• Intrauterine exposure to anticonvulsant medications can lead to a spectrum of developmental abnormalities, known as anticonvulsant embryopathies.
• Valproate and hydantoin are commonly implicated anticonvulsants with distinct teratogenic profiles.

Observation:

• An 18-month-old child presented with bilateral congenital blepharoptosis.
• Physical examination revealed external ocular and nonocular features consistent with valproate and hydantoin embryopathies.
• Neuroimaging identified cavum septum pellucidum, mild sulcation defects, and cerebellar atrophy.

Findings:

• The patient exhibited manifestations of both valproate and hydantoin embryopathies.
• Central nervous system anomalies, including cavum septum pellucidum, were identified on neuroimaging.
• This case represents a rare instance of anomalous septum pellucidum following intrauterine valproate exposure.

Implications:

• Clinicians should be aware of the potential for central nervous system anomalies, particularly septum pellucidum defects, in infants exposed to valproate in utero.
• Recognizing these associated anomalies is crucial for comprehensive patient management and prognostication.
• This case underscores the complex teratogenic effects of anticonvulsant medications during pregnancy.