Vianna Fernanda S L, Schüler-Faccini Lavínia, Leite Julio César L, de Sousa Silvia H C, da Costa Lea Márcia M, Dias Murilo F, Morelo Elaine F, Doriqui Maria Juliana R, Maximino Claudia M, Sanseverino Maria Teresa V
INAGEMP - National Institute of Population Medical Genetics SIAT - Teratogen Information Service Medical Genetics Service, Hospital de Clinicas2de Porto Alegre Genetics Department, Universidade Federal do Rio Grande do Sul, Porto Alegre Maternal and Child Hospital Complex of Maranhão, Maternity Dr Benedito Leite and Hospital Juvencio Mattos Department of Health, State of Maranhão Maternal and Child Health Post Graduation Program, Federal University of Maranhao, Sao Luis National Leprosy Program - PNH, Health Vigilance Secretariat - SVS, Ministry of Health Department of Pharmacovigilance/National Sanitary Vigilance Agency - ANVISA, Brasilia DF Brazilian Association of People with Thalidomide Syndrome - ABPST, Sao Paulo, Brazil.
Clin Dysmorphol. 2013 Apr;22(2):59-63. doi: 10.1097/MCD.0b013e32835ffc58.
Thalidomide is the best-known teratogen worldwide. It was first marketed as a sedative in the late 1950s, but the birth of ~10 000 children with birth defects resulted in the withdrawal of thalidomide from the market in 1962. Thalidomide embryopathy affects almost all organs but the main defects are concentrated in the limbs, eyes, ears, and heart. Shortly after the withdrawal of thalidomide from the market, its effectiveness in the treatment of erythema nodosum leprosum, an inflammatory condition resulting from leprosy, was reported and since the mid-1990s, the drug has been used widely in the treatment of cancers and autoimmune diseases, among other conditions. 40 000 new cases of leprosy are diagnosed every year in Brazil. Although there is a strict legislation for the prescription and use of thalidomide in Brazil, cases of thalidomide embryopathy have continued to be reported. Here, we present two new cases of thalidomide embryopathy identified in 2011 and review the major clinical findings in the literature that can aid the identification of the embryopathy.
沙利度胺是全球最广为人知的致畸剂。它于20世纪50年代末首次作为镇静剂上市，但约10000名有出生缺陷的儿童出生后，沙利度胺于1962年退市。沙利度胺胚胎病几乎影响所有器官，但主要缺陷集中在四肢、眼睛、耳朵和心脏。沙利度胺退市后不久，有报道称其对麻风结节性红斑（一种由麻风病引起的炎症性疾病）有效，自20世纪90年代中期以来，该药物已广泛用于治疗癌症和自身免疫性疾病等病症。巴西每年有40000例新的麻风病病例被诊断出来。尽管巴西对沙利度胺的处方和使用有严格的立法，但沙利度胺胚胎病的病例仍不断被报道。在此，我们介绍2011年发现的两例新的沙利度胺胚胎病病例，并回顾文献中有助于识别该胚胎病的主要临床发现。
