Umbilical Cord Swelling in a Newborn with Down’s Syndrome

Umbilical cord hernia (UCH). The most common fetal anterior abdominal wall defects are omphalocele and gastroschisis.¹ UCH is another anterior abdominal wall defect that is not well defined and often misdiagnosed as minor omphalocele. Unlike a minor omphalocele, which refers to a true abdominal wall defect, congenital UCH is the herniation of the small intestines and sometimes other viscera into the umbilical cord due to the unsuccessful closure of the umbilical ring or the failure of the physiologically herniated intestines to fully withdraw into the abdominal cavity.² Omphalocele and UCH are both formed by the protrusion of internal organs from the umbilicus, but they have different embryological origin, morphology and prognosis.³ Omphalocele is associated with congenital anomalies, and therefore its prognosis is poor.³ However, UCH is rare and similar to the present case, its prognosis is excellent as there are no associated abnormalities.³
A large part of the intestines begins to hernia physiologically at the seventh week of pregnancy, towards the proximal part of the umbilical cord, called the extracoelomic cavity.⁴ This physiological herniation is necessary for the proper rotation of the intestines and sufficient growth of the fetus to accommodate the expanding intestines.⁵ Between ten and twelve weeks of gestational age, the intestines return to the abdominal cavity, leaving behind the umbilical cord, the umbilical ring often closes, and the extracoelomic cavity disappears.⁵ In rare instances, the umbilical ring is unable to close, and the variable parts of the intestines remain in the extracoelomic cavity as a congenital hernia to the umbilical cord.⁴
Omphalocele often occurs in association with other birth defects or specific genetic syndromes, such as Down’s syndrome.⁶ Best to our knowledge, there are no association between the Down’s syndrome and UCH. Therefore, this instructive case of Down’s syndrome with UCH was presented.

Author contribution
SB and MA designed the study; SB and ET wrote the manuscript; UB operated the patient; ET and MA cared of the patient. All authors read and approved the final manuscript.

References :

Christison-Lagay ER, Kelleher CM, Langer JC. Neonatal abdominal wall defects. Semin Fetal Neonatal Med 2011;16:164-172. Raju R, Satti M, Lee Q, Vettraino I. Congenital hernia of cord: an often-misdiagnosed entity. BMJ Case Rep 2015;2015:bcr2015209642. Gajdhar M, Kundal VK, Mathur P, Gajdhar M. Pitfalls in the umbilical pit: giant hernia of the umbilical cord. BMJ Case Rep 2013;2013:bcr2013009381. Burns CW, Ogryzlo MA. Congenital hernia into the umbilical cord; two cases, one associated with persistent cloaca. Can Med Assoc J 1938;39:438-441. Heil JR, Bordoni B. Embryology, Umbilical Cord. [Updated 2020 May 2]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK557490/ Reddy VN, Aughton DJ, DeWitte DB, Harper CE. Down syndrome and omphalocele: an underrecognized association. Pediatrics 1994;93:514-515.