Spontaneous Remission in Congenital Leukemia AML-M1 with Pericardial Effusion

Introduction

As fetal scanning is key to the diagnosis of various congenital anomalies, prenatal ultrasound is widely used in obstetrical practice in Japan. We encountered recently a pregnant woman with atypically enlarged and clear double-bubble in the fetal abdomen. This case indicated that differential diagnoses should include a rare anomaly of double atresia occurring in the esophagus and proximal jejunum in fetuses with double-bubble sign.

Case Report

A 28-year-old nulliparous Japanese woman presented with doublebubble sign in the fetal abdomen and polyhydramnios on ultrasound study at gestational week (GW) 25. Atypically enlarged and clear double-bubble with enlarged distal portion of the esophagus on MRI study at GW 27 in the fetus suggested double atresia of the esophagus and duodenum in this patient (Figure 1). Chromosomal analysis using amniotic fluid obtained at amnioreduction at GW 33 for treatment of polyhydramnios revealed normal male karyotype. An otherwise healthy infant was born vaginally at GW 36 weighing 2794 g, but required tracheal intubation because of insufficient respiration caused by the abdominal distension. He was diagnosed as having double atresia, including jejunal atresia 3 cm distal to the ligament of Treitz and esophageal atresia. The distance between the esophageal pouches was less than 1 cm and there was no tracheoesophageal fistula (TEF). These were surgically repaired at 1 and 36 days of age, respectively. The patient left hospital at 69 days of age with an uneventful postoperative course.

Discussion

To our knowledge, there have been no reports on double atresia involving the esophagus and jejunum showing double-bubble sign. The double-bubble sign, originally described on plain radiography, but now also appreciable on ultrasound and MRI, is a result of excessive fluidfilled structures in the abdomen. Therefore, double-bubble sign is seen prenatally in fetuses with various alimentary tract pathologies . Although the most frequent pathology for the double-bubble sign is duodenal stenosis/atresia , it is not exclusively pathognomonic for duodenal atresia. Pathologies other than duodenal stenosis/atresia presenting with a double-bubble sign include cystic biliary atresia, colonic duplication, malrotation with midgut volvulus, and triple gut atresia.