Abdominal Swelling in a Newborn With Trisomy 21

Michael Nweze; Mely Mathew

doi:10.1542/neo.15-3-e115

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The Case

A newborn with trisomy 21 presents with abdominal swelling (Figure 1).

Figure 1.

Abdominal Swelling 19 days after birth

Prenatal and Birth Histories

19-year-old gravida 2, para 0 (0 preterm births, 0 losses before 20 weeks, and 1 living child ) African American mother
Double bubble sign on prenatal ultrasonogram
No ascitic fluid collection noted on prenatal ultrasonogram
Premature spontaneous vaginal delivery of a male infant with trisomy 21 at 34 weeks of gestation
Apgar scores: 9 and 9 at 1 and 5 minutes after birth, respectively, and no resuscitation required
No abdominal swelling noted at birth

Case Progression

The spontaneous vaginal delivery in the hospital had no complications.

Physical Examination at Birth

Head: Flat occiput; up-slanting palpebral fissures; bilateral epicanthal folds; flat nasal bridge; hypertelorism
Oral cavity: Moist pink mucosae; intact palate; no lymphadenopathy; normal sucking and rooting reflex
Lungs: Clear; equal air entry bilaterally; no respiratory distress
Cardiovascular: First and second heart sounds heard; regular rate and rhythm; grade 3/6 murmur noted over left sternal border
Abdomen: Nondistended; soft; no organomegaly; nontender; umbilicus clean and dry
Genitourinary: Normal male genitalia; patent anus
Skeletal: Normal spinal curvature with no hair tufts, dimples, or other abnormalities
Skin: Anicteric; no rash or birthmarks

Later Findings

Echocardiography on the third day after birth revealed a mild to moderate ventricular septal defect and a patent ductus arteriosus
Surgical intervention on the fourth day after birth to address intestinal anomaly
No milky or chylous fluid accumulation noted intraoperatively
Postoperative increase in abdominal girth noted
Bilious orogastric tube drainage
Normal micturition and defecation
Severe abdominal distension and respiratory distress noted on the 15th postoperative day
Abdominal ultrasonography revealed ascites
Furosemide (Lasix) was administered
Abdominal distension and respiratory distress continued, causing interruptions in oral feeding
On the 49th postoperative day with no improvement in the distension and ascites, an ultrasonography-guided peritoneal tap was performed, with approximately 100 mL of …