Discussion: Philippe Jeanty

Images

Routine 14 weeks scan. One axial image and a longitudinal view are provided.

The image is a cross-section of the fetal abdomen, with the spine at 4:00. Parts of the limbs (normal) are seen at the very top left corner of the image.

Another cross-section very close to the level of the previous one. The fetus is now oriented with is spine at 9:00.

 We had many disappointed comments that the pictures were "fuzzy"… Hey, no complaining ! These are real images, and as you all know sometimes it is hard to get the best possible images. Big mommies, best machine being serviced… whatever ! I think that it is better to have occasionally suboptimal images of very interesting cases, then gorgeous images that do not teach much. This is just the function of the Case of the Week !

Findings

OK, what are the pertinent findings ?

First, this is a 14-week fetus, this was a given.

Second, there is obviously an abnormal fluid collection in this fetus.

What level is this fluid collection ?

Well I had kindly mentioned in the description that it was in the abdomen, and from the second image, which includes a little of ribs we can suspect that it is

1. high in the abdomen,
2. and also pretty much midline
3. and anterior.

We can also recognize that it is "C"-shaped and that the middle portion is not narrowed, but as distended as the rest.

These are all the major observations. A minor observation, that is a little more tenuous, is that there is no obvious alteration of the amniotic fluid.

Differential diagnoses

A fluid collection in the abdomen may result from many sources:

Although nothing is ever absolute, the midline, anterior and superior position makes it unlikely that this would represent a renal obstruction (like ureteropelvic junction obstruction, ureterovesical obstruction, …) or a renal cyst (simple cyst, parapelvic cyst, multicystic dysplasia and the likes). An intriguing suggestion was that of a hydronephrotic horseshoe kidney. That would be unlikely at 14 weeks and the renal pelvis would really not be expected to extend that much anteriorly. Other genitourinary diagnosis (ovarian cysts, hydrometrocolpos, urachal cysts…) are also unlikely that early in the gestation. Urachal cysts would be expected to be anterior and midline, but they are usually oriented cranio-caudally and not side-to-side.

In the "Other" category, the only tempting choices would be an omental or mesenteric cyst. Both tend to be more round and it would be very surprising to see them so early. Lymphangioma would present with multiple cyst or an echogenic mass, splenic cyst would be lateral, posterior, fetus-in-fetu would be more posterior.

The gastrointestinal category has more attractive choices. Choledochal cyst, pancreatic cyst and liver cysts could be in this location but would not be so big. A gastrointestinal duplication could certainly look like that (basically they can look like any thing !) but they tend to have low-level echoes, and often a "tail wrapped around" that represent the normal but partially obstructed bowel. Still that would be a possible diagnosis.

We are then left with the gastrointestinal obstruction category. Of course the one that jumps to mind is a duodenal atresia. But that would be a very distend stomach for a duodenal atresia ! Little fetuses of 14 weeks do not swallow forcefully enough to cause such distension, and they would most likely regurgitate what they swallow. The earliest duodenal atresia I have seen was several weeks later and was certainly not quite spectacular.

But what if the stomach was obstructed not only at the outlet but also at the inlet ? Then all the gastric and pancreatic secretions and bile would accumulate in a closed container ! What could do this ? A combined esophageal and duodenal atresia/obstruction/stenosis !

In fact, when reviewing the literature, there are several such cases^1-16, some dating back all the way to 1976⁹.

"The combination of duodenal atresia and esophageal atresia without tracheoesophageal fistula leads to a closed loop of bowel involving the distal esophagus, stomach, and duodenum. Prenatally, this association of anomalies is visualized as a characteristic dilated C-shaped fluid collection in the fetal abdomen."¹

Can it be distended that early ?

"Duodenal stenosis associated with esophageal atresia was diagnosed by ultrasound at 12 weeks" gestation. The diagnosis was made by recognition of a double bubble sign. Post-abortion autopsy confirmed the diagnosis. Esophageal and duodenal obstruction in this case had no effect on the amount of amniotic fluid or the alpha-fetoprotein concentration since swallowing and subsequent utilization of amniotic fluid do not occur before 12 weeks of gestation."²

Associated anomalies

A fair number of esophageal atresias are indeed associated with duodenal atresia (almost 7% in a surgical series⁸). The combination of the two is associated with several other conditions:

1. Laryngeal stenosis, imperforate anus, Mayer-Rokitansky-Kuster-Hauser³
2. Feingold syndrome (oculodigitoesophago-duodenal syndrome; Microcephaly, Mesobrachyphalangy, Tracheo-esophageal fistula syndrome)⁴
3. MODED: microcephaly-oculo-digito-esophageal-duodenal syndrome¹⁰
4. Down"s syndrome⁵
5. VACTERL syndrome with duodenal atresia⁷
6. CHARGE association⁶

 Prognosis

Most series and case reports suggest a very poor outcome, with only a handful of cases surviving.

Teaching point

Duodenal atresia is unlikely that early, and the accumulation of gastric, pancreatic and biliary secretions in a doubly obstructed stomach can cause much greater distentions than what is observed with duodenal atresia.

 References

1. Estroff JA, Parad RB, Share JC, Benacerraf BR Second trimester prenatal findings in duodenal and esophageal atresia without tracheoesophageal fistula. J Ultrasound Med 1994 May;13(5):375-9
2. Tsukerman GL, Krapiva GA, Kirillova IA First-trimester diagnosis of duodenal stenosis associated with oesophageal atresia. Prenat Diagn 1993 May;13(5):371-6
3. Scorpio RJ, Beals DA, Powell RW Vaginal agenesis discovered during repair of high imperforate anus: operative management. Am Surg 1998 Nov;64(11):1066-9
4. Courtens W, Levi S, Verbelen F, Verloes A, Vamos E Feingold syndrome: report of a new family and review. Am J Med Genet 1997 Nov 28;73(1):55-60
5. Chitty LS, Goodman J, Seller MJ, Maxwell D Esophageal and duodenal atresia in a fetus with Down"s syndrome: prenatal sonographic features. Ultrasound Obstet Gynecol 1996 Jun;7(6):450-2
6. Lim SY Charge association. A case report and short annotation. J Singapore Paediatr Soc 1990;32(1-2):46-9
7. Muraji T, Mahour GH Surgical problems in patients with VATER-associated anomalies. J Pediatr Surg 1984 Oct;19(5):550-4
8. Andrassy RJ, Mahour GH Gastrointestinal anomalies associated with esophageal atresia or tracheoesophageal fistula. Arch Surg 1979 Oct;114(10):1125-8
9. Duenhoelter JH, Santos-Ramos R, Rosenfeld CR, Coln CD Prenatal diagnosis of gastrointestinal tract obstruction. Obstet Gynecol 1976 May;47(5):618-20
10. Frydman M, Katz M, Cabot SG, Soen G, Kauschansky A, Sirota L MODED: microcephaly-oculo-digito-esophageal-duodenal syndrome. Am J Med Genet 1997 Aug 22;71(3):251-7
11. Kessel D, de Bruyn R, Drake D Ultrasound diagnosis of duodenal atresia combined with isolated oesophageal atresia. Br J Radiol 1993 Jan;66(781):86-8
12. Brunner HG, Winter RM Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresia. J Med Genet 1991 Jun;28(6):389-94
13. Patti G, Marrocco G, Mazzoni G, Catarci A Esophageal and duodenal atresia with preduodenal common bile duct and portal vein in a newborn. J Pediatr Surg 1985 Apr;20(2):167-8
14. Jackson GH, Yiu-Chiu VS, Smith WL, Chiu LC Sonography of combined esophageal and duodenal atresia. J Ultrasound Med 1983 Oct;2(10):473-4
15. Hayden CK Jr, Schwartz MZ, Davis M, Swischuk LE Combined esophageal and duodenal atresia: sonographic findings. AJR Am J Roentgenol 1983 Feb;140(2):225-6
16. Spitz L, Ali M, Brereton RJ Combined esophageal and duodenal atresia: experience of 18 patients. J Pediatr Surg 1981 Feb;16(1):4-7