Bravo Antonio, Hernandez Dolores, Martinez-Villarreal Laura, Elizondo Gabriela, Esmer Carmen
Department of Child Neurology, Hospital Central Dr Ignacio Morones Prieto, San Luis Potosí, México.
BMJ Case Rep. 2011 Aug 4;2011:bcr0520114243. doi: 10.1136/bcr.05.2011.4243.
The 'foetal carbamazepine syndrome' is characterised by facial dysmorphism associated to cardiovascular, nervous system, urinary tract and skeletal anomalies. The authors present the case of a neonate born to a 33-year-old epileptic woman treated with long term carbamazepine (CMZ) therapy. Four of her pregnancies exposed to the drug showed bad outcomes. The actual pregnancy ended by caesarean section, a female was born showing facial dysmorphism, hypoplasic nails, xyphosis and myelomeningocele. After 7 days of birth, the infant developed severe neutropenia, moderate pulmonary hypertension, multiple organ failure and died. The karyotype was 46, XX. This case represents an example of the wide spectrum of the syndrome and contributes to describe the clinical profile of the 'foetal carbamazepine syndrome'. The delineation of the foetal carbamazepine syndrome's phenotype remains incomplete, since many of the clinical manifestations are shared with the effect of others anticonvulsants, therefore further studies are needed to determine the specific noxious effects of CMZ in utero.
“胎儿卡马西平综合征”的特征是面部畸形，伴有心血管、神经系统、泌尿系统和骨骼异常。作者报告了一例33岁癫痫女性长期接受卡马西平（CMZ）治疗后所生新生儿的病例。她的四次孕期接触该药物均出现不良结局。此次妊娠以剖宫产结束，娩出一名女婴，该女婴存在面部畸形、指甲发育不全、胸骨剑突畸形和脊髓脊膜膨出。出生7天后，婴儿出现严重中性粒细胞减少、中度肺动脉高压、多器官功能衰竭并死亡。核型为46, XX。该病例代表了该综合征的广泛谱系，并有助于描述“胎儿卡马西平综合征”的临床特征。胎儿卡马西平综合征表型的界定仍不完整，因为许多临床表现与其他抗惊厥药的作用相同，因此需要进一步研究以确定CMZ在子宫内的特定有害影响。
