Ornoy A, Cohen E
Department of Anatomy and Cell Biology, Jerusalem Institute of Child Development, Hebrew University Hadassah Medical School and Ministry of Health, Israel.
Arch Dis Child. 1996 Dec;75(6):517-20. doi: 10.1136/adc.75.6.517.
The purpose of the study was to assess whether there was an increased rate of congenital anomalies or significant developmental delay in infants of women with epilepsy who had been treated with carbamazepine during pregnancy.
47 children were studied, aged 6 months-6 years, who were born to 37 epileptic mothers on carbamazepine monotherapy (group A). All children had a complete physical and neurodevelopmental assessment by a developmental paediatrician, and 41 a complete psychological evaluation. They were compared with 47 children of similar socioeconomic status (group B).
Six of the 47 children in group A had typical facial features of 'carbamazepine syndrome'. The average cognitive score of children in group A was significantly lower than in group B. This was mainly because all six children with carbamazepine syndrome had a development quotient or intelligence quotient below 90. There were no differences between the two groups in physical growth or in the rate of major anomalies. Two children in group A had cleft palate but in each case this was found in a parent as well.
In utero exposure to carbamazepine may result in 'carbamazepine syndrome' characterised by facial dysmorphic features and mild mental retardation. Prevalence of carbamazepine syndrome does not seem to be related to the dose of carbamazepine or the presence of maternal convulsions. It may depend upon heredofamilial factors that have yet to be defined. One possible factor is decreased activity of the enzyme epoxide hydrolase with resulting increased concentrations of carbamazepine epoxide which may be teratogenic.
本研究旨在评估孕期接受卡马西平治疗的癫痫女性所生婴儿的先天性异常发生率是否增加或是否存在明显发育迟缓。
对47名年龄在6个月至6岁的儿童进行了研究,这些儿童的母亲为37名接受卡马西平单一疗法的癫痫患者(A组)。所有儿童均由发育儿科医生进行了全面的身体和神经发育评估,41名儿童还接受了全面的心理评估。将他们与47名社会经济地位相似的儿童(B组)进行比较。
A组47名儿童中有6名具有“卡马西平综合征”的典型面部特征。A组儿童的平均认知得分显著低于B组。这主要是因为所有6名患有卡马西平综合征的儿童的发育商或智商均低于90。两组在身体生长或主要异常发生率方面没有差异。A组有两名儿童患有腭裂,但在每种情况下,其父母也有腭裂。
子宫内接触卡马西平可能导致以面部畸形特征和轻度智力发育迟缓为特征的“卡马西平综合征”。卡马西平综合征的患病率似乎与卡马西平的剂量或母亲惊厥的存在无关。它可能取决于尚未明确的遗传家族因素。一个可能的因素是环氧水解酶活性降低,导致卡马西平环氧化物浓度增加,而卡马西平环氧化物可能具有致畸性。