Associated anomalies
55% of individuals with esophageal atresia had congenital malformations in other systems, most frequently cardiovascular, gastrointestinal, and genitourinary. Most individuals with additional congenital malformations had multiple system involvement [3]. VACTERL (vertebral, anorectal, cardiac, tracheal esophageal, renal and limbs), CHARGE anomalies coexist in children with esophageal atresia. As well there are reports in literature about combination of esophageal atresia with chromosomal abnormalities, and especially with trisomy 18 [4, 5].
Differential diagnosis
Polyhydramnios and absent or small stomach may be associated with numerous other anomalies, e. g., diaphragmatic hernia or deficient fetal swallowing due to mechanical obstruction, facial clefts or neuromuscular disease [6]. The presence of the upper neck pouch sign is an additional sign that helps in the diagnosis of esophageal atresia.
Prognosis
To a large extent the prognosis depends on associated anomalies of the fetus.
Management
Emergency surgical treatment is required for the newborns with esophageal atresia, thus should be delivered in specialized centers.
Discussion of the other anomalies
Retrospective review of the video 2 revealed features of the horseshoe kidney that was described by the pathologist. Surprising conclusion of the pathologist was the "choroid plexus cyst".Our literature sources state so called "intraventricular simple cysts" and they are frequently referred to as intraventricular arachnoid cysts that are rare and usually asymptomatic. They represent uncommon cause of intraventricular cystic lesions. Although this is of little clinical importance, the term intraventricular arachnoid cyst is often used as a general term comprising number of cysts which share simillar appearance but different histological origin. Some of them represent arachnoid cysts whereas others are made of other tissues like ependymal cysts, neuroepithelial cysts or very large choroid plexus cyst [7]. As the lateral ventricles were of normal size, we didn't presume that a cystic lesion of such size may represent the choroid plexus cyst.Intraventricular "arachnoid" cysts represent a number of different simple cystic structures, differing only in the histology of the wall. Some of them are indeed lined by flattened arachnoidal epithelial cells [7]. Unlike of more common arachnoid cysts located in the subarachnoid space, the origin of these lesions is controversial, as there should be no arachnoid tissue within the ventricular system. Most likely they arise from vascular mesenchyme or, in some cases, represent an extension of a subarachnoid arachnoid cyst through the choroidal fissure into the lateral ventricle [8, 9]. Other cysts are lined by ependyma (known as ependymal cysts) and are lined by tall columnar epithelium, whereas others are lined by cuboidal choroidal cells [7].
Images 5, 6: Histological images - image 5 shows choroid plexus tissue on the left and a fragment of the cyst on the right side of the image. Image 6 shows cerebellum and pia mater with vessels on the left and choroid plexus tissue on the right.