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2013-10-22-16 Esophageal atresia with intracranial cyst and horseshoe kidney © Stepanova www.TheFetus.net
Esophageal atresia with intracranial cyst and horseshoe kidney

Anna Stepanova, MD*; Ivan Sakharau, MD**.

*1st City Clinical Hospital, Minsk, Belarus; **Department of Pathology, Minsk, Belarus.

Introduction

Despite of the fact the esophageal atresia is well known anomaly, there were not many articles related to the topic published on TheFetus.Net so far. We present a case of esophageal atresia exhibiting by a fluid filled blind ending esophageal pouch that we hadn’t seen in our practice before. The fetus also had concomitant intracranial cystic lesion.

Definition

Esophageal atresia is a condition in which the proximal and distal portions of the esophagus do not communicate [1].

Prevalence

Reported incidence is 1 in 3590 pregnancies or 2, 78:10 000 [2].

Etiology

Etiology is not clear. No significant annual, seasonal or monthly incidence trends were observed. In addition, the occurrence of esophageal atresia could not be correlated with the prior incidence of infectious hepatitis, rubella, salmonella, or rubeola [2].

Case report

Primigravida with bilateral sensorineural hearing loss (her husband had the same pathology) was referred to our hospital at 36-37 week of gestation. The first ultrasound screening at 12 weeks 4 days was normal. At 18 weeks 5 days polyhydramnios and multiple choroid plexus cysts were revealed. The woman refused amniocentesis. At 35-36 weeks esophageal atresia with tracheo-esophageal fistula was suspected due to polyhydramnios, small stomach and “blind-pouch” sign. Intracranial cyst was also detected.

During our examination the fetus showed asymmetric form of intrauterine growth restriction and polyhydramnios was present (amniotic fluid index 271 mm). Here some images with the anomalies we had found:

Image 1 and video 1: Fluid filled blind end of the esophagus.

 

Images 2, 3: Small stomach (image 2) and dilated bowels (image 3).

 

Video 2 and image 4: Dilated bowels and polyhydramnios.

 

Video 3: Intracranial cyst. Note the normal size of the lateral ventricles.



The cystic structure in the neck had disappeared at the end of our examination. Our presumed diagnosis was esophageal atresia with tracheo-esophageal fistula. The cranial cyst was considered to be porencephalic or arachnoid cyst.

Female neonate was born at 37th week of gestation (1850 g; Apgar score 5) but has died 10 hours after birth.

Pathological study found dolichocephaly, microphthalmia, microstomia, esophageal atresia with distal tracheo-esophageal fistula (type 3), horseshoe kidney, rockerbottom feet, dysplastic posterior leaflet of the mitral valve, and choroid plexus cyst.

Discussion

Five types of esophageal atresia were described in the literature:

Type A without fistula (sometime called pure esophageal atresia) (8%); 
Type B has a connection (fistula) between the upper pouch and the trachea (1%); 
Type C is by far the most common form of and has a fistula between the lower esophagus and the trachea with a blind upper pouch (86%); 
A rare form (1%) is type D with two fistulas between upper and lower esophageal segments and trachea.
Type E has fistula without esophageal atresia (usually referred as "H" or "N" shaped fistula) - 2-4%.

One non-specific symptom that surprised us was bowel dilatation, but according to literature 
some authors had noticed bowel dilatation even in cases of pure esophageal atresia [2]. 

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.

 

References

1. Garg MK Case report: Upper neck pouch sign in the antenatal diagnosis of esophageal atresia. Indian J Radiol Imaging. 2009 19(3): 252-254
2. Demidov VN, Mashinec NV Sonography capabilities in prenatal diagnosis of esophageal atresia Russian J Prenatal Diagn. 2011 10(4):328-332
3. Fraser C, Baird PA, Sadovnick AD A comparison of incidence trends for esophageal atresia and tracheoesophageal fistula, and infectious disease. Teratology.1987 36(3): 363-369
4. Genevieve D, de Pontual L, Amiel J, Sarnacki S, Lyonnet S An overview of isolated and syndromic oesophageal atresia. Clin Genet. 2007 71(5):392-399.
5. Stringer MD, McKenna KM, Goldstein RB, Filly RA, Adzick NS, Harrison MR Prenatal diagnosis of esophageal atresia. J Pediatr Surg. 1995 30(9): 1258-1263
6. Garg MK Case report: Upper neck pouch sign in the antenatal diagnosis of esophageal atresia. Indian J Radiol Imaging 2009; 19:252-254
7. Kaufman HH. Cerebrospinal Fluid Collections. Thieme. 1998 ISBN: 1879284480
8. Park SW, Yoon SH, Cho KH, Shin YS A large arachnoid cyst of the lateral ventricle extending from the supracerebellar cistern – case report. Surg Neurol. 2006; 65(6): 611-614
9. Okamura K,Watanabe M, Inoue N, Kanoh M, Ohno T, Mitsui Y, Wakabayashi K [Intraventricular arachnoid cyst--on the origin of intraventricular arachnoid cysts]. No To Shinkei. 1996 Nov; 48(11):1015-1021.

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