Middle and inner ear malformations in two siblings exposed to valproic acid during pregnancy: a case report

Area of Science:

• Teratology
• Developmental Pediatrics
• Otolaryngology

Background:

• Valproic acid (VPA) is a recognized teratogen, associated with fetal valproate syndrome, characterized by distinct facial features, congenital anomalies, and developmental delays.
• Conductive hearing loss is a potential complication, but specific inner and middle ear malformations linked to VPA exposure have not been extensively documented.

Observation:

• This case report investigates two siblings diagnosed with fetal valproate syndrome and mild conductive hearing loss.
• Radiologic imaging revealed malformations of the middle and inner ear structures in both affected children.

Findings:

• The study provides the first documented evidence of middle and inner ear malformations in children with a history of in utero exposure to valproic acid.
• Audiologic, vestibular, and motor assessments were conducted to further characterize the functional impact of these malformations.

Implications:

• This finding highlights a previously unrecognized spectrum of physical anomalies associated with fetal valproate syndrome.
• It suggests the need for routine audiological and potentially radiological screening in infants exposed to VPA during gestation.
• Further research is warranted to elucidate the precise mechanisms underlying VPA-induced otic malformations and their long-term consequences.