Congenital aplasia of the optic chiasm and esophageal atresia: a case report

Abstract

IntroductionThe 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 presentationAplasia 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.ConclusionIf 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.

Abnormal Eye Movements in a Young Girl

“…Achiasma can be associated with craniofacial defects, heart defects, agenesis of the corpus callosum, and vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, kidney anomalies, and limb abnormalities (VACTERL) syndrome . Similar to this patient, an association with esophageal atresia has been reported . Clonazepam may be effective in acquired SSN, but there is a lack of evidence for congenital SSN; therefore, option D is incorrect.…”

“…8 Similar to this patient, an association with esophageal atresia has been reported. 9 Clonazepam may be effective in acquired SSN, 10 but there is a lack of evidence for congenital SSN; therefore, option D is incorrect.…”

A Study of Normal Mri Measurements of Optic Chiasma and Its Correlation With Perichiasmal Lesions

“…This abnormality is different from non-decussating retinal fugal fibre syndrome and albinism. (15) In chiasmal aplasia, the optic chiasma is very difficult to identify due to congenital absence or marked hypoplasia. The chiasmal region is nearly filled up with CSF signal intensity.…”