1. PATIENT PRESENTATION
A male presented to the emergency department at 4.5 hours of life for evaluation of an abnormal umbilicus. He was born at 38 weeks gestation to a G1P1, 21‐year‐old mother at home with the assistance of a midwife. His mother endorsed an uncomplicated pregnancy, though she received no prenatal care. She is part of the local Amish community. The patient was brought to the hospital for further evaluation of his umbilicus (Figure 1).
FIGURE 1.
Visual examination of the abdomen.
2. DIAGNOSIS
2.1. Omphalocele
Physical examination identified an omphalocele containing small bowel and straw‐colored, clear ascites. The sac was intact and transparent, and the visualized bowel was well perfused without obvious perforation. The abdomen was otherwise soft, non‐distended, and non‐tender to palpation. He was in no distress and exhibited appropriate central and peripheral tone with mild acrocyanosis. After birth, attempts to breastfeed resulted in desaturation and dusky discoloration of the skin.
Omphalocele is the most common defect of the ventral abdominal wall with an estimated prevalence of 2.6 per 10,000 births. 1 The defect is thought to be due to the embryonic dysplasia theory in combination with the malfunction of ectodermal placodes. 2 It is associated with other significant anomalies in up to 80% of cases, with cardiac anomalies being the most frequent. 3 This patient was found to have hypoplastic left heart syndrome, a large patent ductus arteriosus, and situs inversus (Figure 2). The treatment for omphalocele is usually early surgical intervention, but in patients with comorbid cardiac defects, the cardiac defect must be medically stabilized or surgically repaired before a delayed reduction and closure of the abdominal defect. 3 After speaking with numerous physicians and their community Elders, the parents decided to pursue palliative care and transported the patient home where he expired.
FIGURE 2.
Chest x‐ray showing situs inversus with orogastric tube tip in right upper quadrant and rightward oriented cardiac apex with right aortic arch.
CONFLICT OF INTEREST STATEMENT
The authors declare no conflicts of interest.
ACKNOWLEDGMENT
No funding was received for this work.
Groesbeck E, Melnychuk E. Neonate with an abnormal umbilicus. JACEP Open. 2023;4:e13078. 10.1002/emp2.13078
Prior Presentations: This work has not been previously presented or published elsewhere.
REFERENCES
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