Pensiero Stefano, Cecchini Paolo, Michieletto Paola, Pelizzo Gloria, Madonia Maurizio, Parentin Fulvio
Ophthalmology Unit, Department of Surgery, Institute for Maternal and Child Health, Burlo Garofolo Trieste, Via dell'Istria 65/1, I-34100 Trieste, Italy.
J Med Case Rep. 2011 Aug 1;5:335. doi: 10.1186/1752-1947-5-335.
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.
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.
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.
完全没有视交叉（视交叉发育不全）是一种罕见的临床病症。视神经发育不全和先天性眼球震颤几乎总是与之相关的特征。小眼症或无眼症是视交叉发育不全的常见特征，而中枢神经系统异常则较少见。食管闭锁可以是孤立性的或综合征性的。在综合征性病例中，它常与心脏、肢体、肾脏或脊柱畸形以及肛门闭锁相关。更罕见的是，食管闭锁可以是无眼症 - 食管 - 生殖器综合征的一部分，该综合征包括无眼症或小眼症、生殖器异常、脊柱缺陷和脑畸形。在此，描述了一例先前未报道的视交叉发育不全病例，该病例无小眼症且伴有食管闭锁。
在一名患有食管闭锁的8个月大意大利白人男孩中发现了视交叉发育不全。妊娠21周时进行的超声检查显示羊水过多。随后在妊娠28周时检测到宫内生长迟缓、食管闭锁和一个小的房间隔缺损。出生后不久进行了食管闭锁修复术。4个月时进行了空肠造口术以促进肠内喂养。随后发现该患儿视觉注意力不集中且神经发育延迟。磁共振成像显示视交叉发育不全。未发现其他中线脑缺陷。他的核型正常。
如果无交叉视是一种谱系，我们的患者似乎描绘了最严重的形式，因为他似乎有极其严重的视力损害。这与文献中描述的大多数病例形成对比，在那些病例中患者保持良好的——或至少是有用的——视觉功能。据我们所知，视神经发育不全、完全性视交叉发育不全、食管闭锁和房间隔缺损、后鼻孔闭锁、眼距过宽和精神运动发育迟缓的关联以前从未被描述过。
