Ortega García Juan A, Angulo Mario G, Sobrino-Najul Elías J, Soldin Offie P, Mira Alberto Puche, Martínez-Salcedo Eduardo, Claudio Luz
Pediatric Environmental Health Specialty Unit, Neuropediatric Unit, Department of Pediatrics, University Hospital Virgen of Arrixaca, Murcia, Spain.
J Med Case Rep. 2011 Mar 31;5:129. doi: 10.1186/1752-1947-5-129.
Autism is a complex neurodevelopmental disorder in which the interactions of genetic, epigenetic and environmental influences are thought to play a causal role. In humans, throughout embryonic and fetal life, brain development is exquisitely susceptible to injury caused by exposure to toxic chemicals present in the environment. Although the use of herbal supplements during pregnancy is relatively common, little information is available on their association with fetal neurodevelopment. This is, to the best of our knowledge, the first report in the literature to associate a new plausible mechanism of neurodevelopmental toxicity with a case of autism spectrum disorder through a vitamin deficiency potentiated by concomitant use of herbal supplements and ethanol exposure.
We describe the pediatric environmental history of a three-year-old Caucasian girl with an autism spectrum disorder. We utilized her pediatric environmental history to evaluate constitutional, genetic, and environmental factors pertinent to manifestation of neurodevelopment disorders. Both parents reported prenatal exposure to several risk factors of interest. A year prior to conception the mother began a weight loss diet and ingested 1200 mg/day of 'horsetail' (Equisetum arvense) herbal remedies containing thiaminase, an enzyme that with long-term use can lead to vitamin deficiency. The mother reported a significant weight loss during the pregnancy and a deficiency of B-complex vitamins. Thiamine (vitamin B1) deficiency could have been potentiated by the horsetail's thiaminase activity and ethanol exposure during pregnancy. No other risk factors were identified.
A detailed and careful pediatric environmental history, which includes daily intake, herbal remedies and ethanol exposure, should be obtained from all patients with autism spectrum disorder. Maternal consumption of ethanol and of herbal supplements with suspected or potential toxicity should be avoided during pregnancy. The prospective parents should perform preconception planning before pregnancy.
自闭症是一种复杂的神经发育障碍,其中遗传、表观遗传和环境影响的相互作用被认为起着因果作用。在人类中,从胚胎期到胎儿期,大脑发育极易受到环境中存在的有毒化学物质暴露所造成的损伤影响。尽管孕期使用草药补充剂相对常见,但关于它们与胎儿神经发育的关联信息却很少。据我们所知,这是文献中首次报道通过伴随使用草药补充剂和乙醇暴露导致的维生素缺乏,将一种新的可能的神经发育毒性机制与一例自闭症谱系障碍病例联系起来。
我们描述了一名患有自闭症谱系障碍的三岁白人女孩的儿科环境史。我们利用她的儿科环境史来评估与神经发育障碍表现相关的体质、遗传和环境因素。父母双方都报告了产前暴露于几种相关风险因素。受孕前一年,母亲开始节食减肥,并每天摄入1200毫克含有硫胺素酶的“马尾草”(Equisetum arvense)草药,长期使用这种酶会导致维生素缺乏。母亲报告孕期体重显著减轻,且复合维生素B缺乏。孕期马尾草的硫胺素酶活性和乙醇暴露可能加剧了硫胺素(维生素B1)缺乏。未发现其他风险因素。
对于所有自闭症谱系障碍患者,都应获取详细且仔细的儿科环境史,包括每日摄入量、草药补充剂和乙醇暴露情况。孕期应避免母亲摄入乙醇以及使用具有可疑或潜在毒性的草药补充剂。准父母在怀孕前应进行孕前规划。