Hatice Mutlu-Albayrak1, Cahide Bulut2, Hüseyin Çaksen3. 1. Department of Pediatric Genetics, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey. Electronic address: haticemutlu@gmail.com. 2. Department of Pediatric Neurology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey. 3. Department of Pediatric Genetics, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey; Department of Pediatric Neurology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.
Abstract
BACKGROUND: There have been several reports of congenital malformations in the offspring of mothers who took valproic acid (VPA) during pregnancy as a treatment for epilepsy. METHODS: Herein, we describe four cases with typically similar facial features of fetal valproate syndrome accompanied to minor skeletal abnormalities. RESULTS: The first case was a 16-month-old girl, presenting with facial dysmorphism, and finger abnormalities. Her mother took VPA (1500 mg/d) up to the 10th gestational week and at a dosage of 1000 mg/d through the pregnancy. The second patient was 5-year-old boy with speech disability, bilateral cryptorchidism, facial dysmorphism, and finger abnormalities whose mother took VPA (1000 mg/d) through pregnancy. The third 19-month-old patient was the brother of the second patient who had facial dysmorphism, bilateral cryptorchidism, and finger abnormalities. His mother also took VPA (1000 mg/d) through pregnancy. The fourth 3-year and 6 month-old boy with minor facial dysmorphism and sternum deformity was exposed to VPA (500 mg/d) in utero. CONCLUSION: In conclusion, there is a recognizable spectrum of abnormalities in some infants exposed to VPA without dose-depence and the common facial dysmorphic features and minor skeletal abnormalities that may occur within the both low and high dose VPA use.
BACKGROUND: There have been several reports of congenital malformations in the offspring of mothers who took valproic acid (VPA) during pregnancy as a treatment for epilepsy. METHODS: Herein, we describe four cases with typically similar facial features of fetal valproate syndrome accompanied to minor skeletal abnormalities. RESULTS: The first case was a 16-month-old girl, presenting with facial dysmorphism, and finger abnormalities. Her mother took VPA (1500 mg/d) up to the 10th gestational week and at a dosage of 1000 mg/d through the pregnancy. The second patient was 5-year-old boy with speech disability, bilateral cryptorchidism, facial dysmorphism, and finger abnormalities whose mother took VPA (1000 mg/d) through pregnancy. The third 19-month-old patient was the brother of the second patient who had facial dysmorphism, bilateral cryptorchidism, and finger abnormalities. His mother also took VPA (1000 mg/d) through pregnancy. The fourth 3-year and 6 month-old boy with minor facial dysmorphism and sternum deformity was exposed to VPA (500 mg/d) in utero. CONCLUSION: In conclusion, there is a recognizable spectrum of abnormalities in some infants exposed to VPA without dose-depence and the common facial dysmorphic features and minor skeletal abnormalities that may occur within the both low and high dose VPA use.
Authors: Kyong-Oh Shin; Debra A Crumrine; Sungeun Kim; Yerin Lee; Bogyeong Kim; Katrina Abuabara; Chaehyeong Park; Yoshikazu Uchida; Joan S Wakefield; Jason M Meyer; Sekyoo Jeong; Byeong Deog Park; Kyungho Park; Peter M Elias Journal: BMC Neurosci Date: 2021-06-22 Impact factor: 3.288