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CASE REPORT
Year : 2021 | Volume
: 10
| Issue : 1 | Page : 45-47
Meconium peritonitis in trisomy 21 masquerading as hydrops fetalis
Pamela Si Min Ng1, Priyantha Ebenezer Edison2, Narasimhan Kannan Laksmi3, Ashwani Bhatia4, Sridhar Arunachalam2
1 Department of Neonatal and Developmental Medicine, Singapore General Hospital; Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore
2 Department of Neonatal and Developmental Medicine, Singapore General Hospital, Singapore
3 Department of Paediatric Surgery, KK Women's and Children's Hospital, Singapore
4 Department of Neonatology, KK Women's and Children's Hospital, Singapore
Correspondence Address:
Dr. Pamela Si Min Ng
Department of Neonatal and Developmental Medicine, Singapore General Hospital, Outram Rd., 169608
Singapore
Source of Support: None, Conflict of Interest: None
CheckDOI: 10.4103/jcn.jcn_170_20
Meconium peritonitis (MP) is a rare etiology for nonimmune hydrops fetalis. We report a neonate delivered at 32 weeks' gestation in the context of antenatally diagnosed hydrops fetalis and first-trimester screening at high risk for Trisomy 21. The postnatal abdominal radiograph was striking for gross ascites, the paucity of bowel gas, and widespread calcifications, suggestive of MP and chromosomal analysis confirmed Trisomy 21. Exploratory laparotomy performed on day 3 of life revealed a large pseudocyst, ileal atresia with ileal perforation. MP masquerading as nonimmune hydrops fetalis in Trisomy 21 with ileal atresia is an extremely rare presentation, seldom reported in the literature.
Keywords: Ileal atresia, meconium peritonitis, nonimmune hydrops fetalis, trisomy
Meconium peritonitis (MP) is an aseptic chemical peritonitis that happens secondary to fetal intestinal perforation in utero. It has an incidence of 1 in 35,000 births. One rare presentation of MP is nonimmune hydrops fetalis (NIHF), which occurs in 3 out of 10,000 births and has a perinatal mortality rate of 50%–98%.[1] We present a case of MP secondary to bowel perforation from ileal atresia, in a preterm infant with Trisomy 21, with antenatally diagnosed hydrops fetalis.
Clinical Summary12 weeks of fetal ultrasonography in a 44-year-old pregnant woman detected early signs of fetal hydrops and increased nuchal thickness. Chorionic villous sampling was unsuccessful, and parents opted against amniocentesis after being counseled for the high likelihood of a chromosomal abnormality. Evaluation for causes of hydrops including antibody screen, serology for intrauterine infections, Doppler studies for the presence of fetal anemia returned negative. Serial fetal ultrasonography ruled out structural cardiac or renal defects. However, hyperechogenic bowels, ascites, and bilateral pleural effusion were reported from 31 weeks onwards.
Due to worsening hydrops and Doppler studies suggestive of uteroplacental insufficiency, a male infant was delivered by cesarean section at 32 weeks' gestation weighing 2170 g. He required endotracheal intubation, mechanical ventilation, and drainage of a right-sided pleural effusion during resuscitation and early stabilization in the neonatal intensive care unit. Phenotypical features on clinical examination and genotype on chromosomal analysis correlated with trisomy 21. Hematological indices were unremarkable for anemia or transient abnormal myelopoiesis. Pleural fluid was transudative and postnatal echocardiography reported a moderate atrial septal defect.
Initial chest and abdominal radiograph after birth revealed gross ascites, dilated stomach, paucity of bowel loops, and diffusely scattered plaques of calcifications, suggestive of MP [Figure 1]a. Abdominal ultrasonography was largely corroborative and an abdominal radiograph repeated at 18 h of life [Figure 1]b and [Figure 1]c revealed a pneumoperitoneum.
Figure 1: Abdominal radiograph (a) done after birth revealed gross ascites, dilated stomach, the paucity of bowel gas, and extensive calcifications; (b) at 18 h of life revealed a new U-shaped central gas shadow suggestive of bowel perforation (black arrow) and a lateral decubitus radiograph (c) confirmed the free intraperitoneal air (white arrow)He underwent exploratory laparotomy with ileal resection and stoma creation on day 3 of life. Intra-operative findings include the presence of a large thick-walled pseudocyst filled with meconium [Figure 2]a and [Figure 2]b, ileal atresia, and an ileal perforation [Figure 2]c. Postoperative recovery was uneventful, and he was started on enteral feeds and extubated by day 9 of life. He was discharged at term equivalent postmenstrual age on the elemental formula by nasogastric tube feeding with a weight of 2642 g.
Figure 2: Intraoperative findings of (a) a large thick-walled pseudocyst filled with meconium; (b) ileal atresia with perforation and; (c) resected atretic segments of the ileum Discussion Antenatal bowel perforation secondary to structural causes such as atresia, volvulus, stenosis, meconium ileus, or intrauterine infections (cytomegalovirus and rubella) can be an antecedent to MP.[2] MP complicated by pseudocyst formation can obstruct venous return and increase central venous pressure leading to the pathophysiology of NIHF.[3]
Chromosomal aneuploidy and cardiovascular abnormalities are the most common etiology of NIHF. Its occurrence in Trisomy 21 is usually secondary to an underlying cardiac pathology, transient abnormal myelopoiesis, or lymphatic dysplasia. Isolated intestinal malformations can account for around 1% of all cases of NIHF, according to a systematic review by Bellini and Hennekam.[4] Furthermore, of note, ileal atresia is an extremely rare congenital gastro-intestinal defect to be associated with Trisomy 21. Trisomy 21 fetus developing NIHF secondary to ileal atresia and MP is, therefore, an extremely rare occurrence and is reported for its distinct clinical entity and very unusual presentation.
Fetal ascites and intra-abdominal calcifications are the most common antenatal ultrasound findings.[2] Shyu et al. stated that persistent ascites, pseudocysts, and dilated bowel loops were most likely to predict the need for postnatal surgery.[5] In our case, generalized edema was a feature from the early second trimester along with grade 1 echogenic bowels. Fetal ascites and bilateral pleural effusions presented later at 31 weeks gestation. Lack of fetal karyotyping and active surveillance for fetal intra-abdominal calcifications were limitations for a prenatal diagnosis.
Postnatal presentation of MP ranges from being asymptomatic due to healed perforation to severe peritonitis requiring emergency surgical intervention. The pneumoperitoneum seen in the follow-up radiograph of our case may be likely due to a nascent postnatal perforation.
The surgical strategy is usually two staged with an immediate temporary enterostomy or drainage and delayed reconstruction of intestinal continuity. The survival rate is generally >90% and the preoperative presence of systemic inflammatory syndrome, circulatory deficiency, or persistent pulmonary hypertension of the newborn are reported to be associated with neonatal morbidity or mortality.[5]
ConclusionTo summarize, NIHF in fetuses with Trisomy 21 can have unusual and uncommon etiologies. A combination of ascites, intraperitoneal calcification, and echogenic bowel on fetal ultrasound raises a high suspicion of MP.
Prenatal diagnosis of MP would aid timing the delivery preferably in a tertiary neonatal center equipped with pediatric surgical expertise such that close monitoring and timely surgical intervention can be instituted to improve neonatal outcomes.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that name and initials will not be published and due efforts will be made to conceal the identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
References
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