Mutlu-Albayrak Hatice, Bulut Cahide, Çaksen Hüseyin
Department of Pediatric Genetics, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.
Department of Pediatric Neurology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.
Pediatr Neonatol. 2017 Apr;58(2):158-164. doi: 10.1016/j.pedneo.2016.01.009. Epub 2016 Jun 17.
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.
Herein, we describe four cases with typically similar facial features of fetal valproate syndrome accompanied to minor skeletal abnormalities.
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 10 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.
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.
有几份报告指出，母亲在孕期服用丙戊酸（VPA）治疗癫痫，其后代出现先天性畸形。
在此，我们描述了4例具有典型胎儿丙戊酸盐综合征相似面部特征并伴有轻微骨骼异常的病例。
第一例是一名16个月大的女孩，表现为面部畸形和手指异常。她的母亲在妊娠第10周前服用VPA（1500毫克/天），整个孕期服用剂量为1000毫克/天。第二例患者是一名5岁男孩，有语言障碍、双侧隐睾、面部畸形和手指异常，其母亲在孕期服用VPA（1000毫克/天）。第三例19个月大的患者是第二例患者的兄弟，有面部畸形、双侧隐睾和手指异常。他的母亲在孕期也服用VPA（1000毫克/天）。第四例3岁6个月大的男孩有轻微面部畸形和胸骨畸形，在子宫内接触过VPA（500毫克/天）。
总之，一些暴露于VPA的婴儿存在可识别的异常谱，且无剂量依赖性，在低剂量和高剂量使用VPA时均可能出现常见的面部畸形特征和轻微骨骼异常。
