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Trisomy 13 and Meckel diverticulum: Challenges in management of infants with trisomy 13

Trisomy 13 is one of the most common autosomal trisomies, and it is accompanied by anomalies of many organs. However, management is usually directed towards less aggressive treatment because of high infant mortality. We encountered a case of trisomy 13 accompanied by Meckel diverticulum (MD). A 1,412 g male was born to a 27-year-old gravida 1, para 1 woman by emergency Cesarean secondary to fetal distress at a gestational age of 33 weeks. His prenatal history was significant in that bowel evisceration, severe oligohydramnios, and fetal growth retardation had been detected by ultrasonic assessment at 30 weeks’ gestation. The oligohydramnios was so severe that no amniotic fluid could be obtained for chromosomal analysis. Immediately following birth, he developed respiratory distress and required intubation, and the bowel evisceration was diagnosed as omphalocele. Other physical features included microcephaly, punched out scalp defect, ocular hypertelorism, saddle nose, complete bilateral cleft palate, small low-set ears, rudimentary right auricle with atresia of external acoustic meatus, hypoplastic penis, and posterior prominence of the heels, all compatible with trisomy 13. There were no obvious intracranial and cardiovascular anomalies on ultrasonographic (US) examination. Immediately after birth, primary repair of omphalocele was performed by laparotomy. During the laparotomy, MD measuring 3 cm in its greatest diameter was found, although it was not excised. Postoperative recovery was uneventful, and he was extubated on day 2. The diagnosis of trisomy 13, 47, XY, t13, was confirmed by chromosomal analysis of peripheral blood cells obtained on the day of birth. The parents were counseled about the diagnosis and the poor prognosis for the neonate, but they requested aggressive treatments for him. His condition was generally stable, although he had recurrent episodes of apnea with bradycardia which required resuscitation with positive pressure ventilation. Starting at 2 weeks of age, his serum C-reactive protein (CRP) level progressively increased despite administration of antibiotics. At 22 days of age, a firm, spherical mass was detected in the right lower abdomen, and it was diagnosed as Meckel’s diverticulitis by various imaging studies including abdominal X-ray, sonogram and computed tomography. Surgical excision was considered, but we elected to continue conservative management by antibiotic administration due to the poor condition of the patient and the high risk of death from general anesthesia and laparotomy. The serum CRP level gradually decreased, and the abdominal mass also decreased in size. At 67 days of age, he had bloody stools. The intestinal bleeding was transient and it was suspected to be related to MD. However, 12 days later, he again had bloody stools. Although transfusion therapy was immediately started, he continued to have bloody stools. There was progressive worsening of abdominal distention, and bile-stained fluid continued to be aspirated through the nasogastric tube. Ultrasound examination revealed intestinal obstruction and emergency surgery was performed at 79 days of age. During the laparotomy, a large mass measuring 4 cm at its maximum diameter, was seen to arise from the antimesenteric border of the terminal ileum. The gross findings strongly indicated that the lesion was the MD. There was no evidence of past-generalized peritonitis, but the ileum was twisted so as to cause complete obstruction. Volvulus of the ileum with a total rotation of 7208 in the counterclockwise