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首页> 外文期刊>Journal of Medical Case Reports >Congenital aplasia of the optic chiasm and esophageal atresia: a case report
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Congenital aplasia of the optic chiasm and esophageal atresia: a case report

机译：视交叉性先天性发育不全和食管闭锁：一例报告

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Introduction The complete absence of the chiasm (chiasmal aplasia) is a rare clinical condition. Hypoplasia of the optic nerve and congenital nystagmus are almost invariably associated characteristics. Microphthalmos or anophthalmos are common features in chiasmal aplasia, while central nervous system abnormalities are less frequent. Esophageal atresia can be isolated or syndromic. In syndromic cases, it is frequently associated with cardiac, limb, renal or vertebral malformations and anal atresia. More rarely, esophageal atresia can be part of anophthalmia-esophageal-genital syndrome, which comprises anophthalmia or microphthalmia, genital abnormalities, vertebral defects and cerebral malformations. Here, a previously unreported case of chiasmal aplasia presenting without microphthalmos and associated with esophageal atresia is described. Case presentation Aplasia of the optic chiasm was identified in a Caucasian Italian 8-month-old boy with esophageal atresia. An ultrasound examination carried out at 21 weeks' gestation revealed polyhydramnios. Intrauterine growth retardation, esophageal atresia and a small atrial-septal defect were subsequently detected at 28 weeks' gestation. Repair of the esophageal atresia was carried out shortly after birth. A jejunostomy was carried out at four months to facilitate enteral feeding. The child was subsequently noted to be visually inattentive and to be neurodevelopmentally delayed. Magnetic resonance imaging revealed chiasmal aplasia. No other midline brain defects were found. His karyotype was normal. Conclusion If achiasmia is a spectrum, our patient seems to depict the most severe form, since he appears to have an extremely severe visual impairment. This is in contrast to most of the cases described in the literature, where patients maintain good--or at least useful-- visual function. To the best of our knowledge, the association of optic nerve hypoplasia, complete chiasmal aplasia, esophageal atresia and atrial-septal defect, choanal atresia, hypertelorism and psychomotor retardation has never been described before.
机译：引言完全不存在chiasm（chiasmal发育不良）是一种罕见的临床疾病。视神经发育不全和先天性眼球震颤几乎总是相关的特征。小眼或无眼是典型的特征，而中枢神经系统异常的发生率较低。食管闭锁可以是孤立的或综合症。在有症状的情况下，它通常与心脏，肢体，肾脏或椎骨畸形和肛门闭锁有关。食道闭锁很少见，可以是失语症-食道-生殖器综合症的一部分，其中包括失语症或小眼症，生殖器异常，椎骨缺损和脑畸形。在此，描述了先前未报告的未出现眼睑发育不良并伴有食管闭锁的病例。病例介绍在一个意大利白人8个月大的食管闭锁男孩中发现了视交叉的发育不良。妊娠21周进行的超声检查发现羊水过少。随后在妊娠28周时发现宫内发育迟缓，食管闭锁和少量房间隔缺损。出生后不久进行了食管闭锁的修复。在四个月时进行空肠造口术以促进肠内喂养。随后发现该儿童视觉上注意力不集中，神经发育迟缓。磁共振成像显示revealed状发育不全。没有发现其他中线大脑缺陷。他的核型正常。结论如果视力差是频谱，我们的患者似乎表现出最严重的形式，因为他似乎患有极其严重的视力障碍。这与文献中描述的大多数情况相反，在这些情况下，患者保持了良好的或至少有用的视觉功能。据我们所知，以前从未描述过视神经发育不全，完全性Chiasmal发育不全，食管闭锁和房间隔缺损，choanal闭锁，过度肌肉痉挛和精神运动发育迟缓之间的关系。

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