Liver heterotopia associated with congenital diaphragmatic hernia

Abstract

Rationale:Liver heterotopia associated with congenital diaphragmatic hernia (CDH) is a rare condition; to the best of our knowledge, only 17 cases have been reported to date. The histogenesis and clinicopathological features are largely unknown. We herein report 2 cases of liver heterotopia associated with CDH along with 17 cases described in the literature to shed light on their clinicopathological characteristics.Patient concerns:Case 1 was a vaginally delivered male newborn who presented with respiratory distress immediately after birth. Case 2 was a female fetus who was found to have left-sided CDH during gestation.Diagnosis:In case 1, a chest X-ray revealed left-sided CDH. In case 2, magnetic resonance imaging performed at 33 weeks of gestation revealed left-sided CDH.Interventions:Case 1 underwent diaphragmatic patch repair surgery 3 days after birth. Histopathological examination following surgery in case 1 revealed the presence of ectopic liver tissue in the hernia sac. Case 2 was delivered by Cesarean section, and diaphragmatic patch surgery was performed 3 days after birth. During surgery, an isolated nodule was identified on the peritoneal side of the border of the defective foramen of the diaphragm. Histopathological examination following surgery in case 2 confirmed the presence of an epidermal cyst in the hernia sac. In addition, the isolated nodule was histopathologically found to be ectopic liver tissue.Outcomes:In Case 1, CDH recurred at 6 months after surgery, and a second patch repair surgery was performed. The surgically removed hernia sac was found to contain microscopic ectopic liver tissue on histopathology. Case 1 recovered well after surgery, and there was no critical change during the 10-month postoperative period. Case 2 recovered well after surgery, and there was no critical change during the 20-month postoperative period.Lessons:There were no secondary pathological conditions associated with the presence of ectopic liver in CDH, such as torsion, infarction, rupture, intra-abdominal bleeding, or tumorization. Our observations suggest that liver heterotopia is a rare but asymptomatic condition in patients with CDH.

A case of Bochdalek hernia with anomalous hepatic lobe heterotopia-case report

“…Secondly, knowledge of this association is helpful intra operatively to delineate the anatomy and facilitate the proper surgical repair of the diaphragmatic defect. Third, ectopic liver lobe may be complicated by secondary pathological condition such as torsion, infarction, and bleeding [16]. While these complications were not reported in this case, it is essential for the surgeon to be aware of these Risks.…”

Ingrowing Liver as Atypical Recurrent Diaphragmatic Hernia Presentation—Diagnostic and Treatment Difficulties: A Case Report

“…An interesting, different concept of liver presence in thoracic cavity is the hepatic heterotopia, classified into four types. The literature suggested some types are associated with CDHs, such as small, accessory liver lobe connected with the main liver, an isolated ectopic liver forming a macroscopic nodule and a microscopic, ectopic liver tissue [ 7 , 8 ]. It has been reported that hepatic heterotopia in the diaphragm may lead to CDH recurrence [ 7 , 8 ].…”

Perspective on Similarities and Possible Overlaps of Congenital Disease Formation—Exemplified on a Case of Congenital Diaphragmatic Hernia and Neuroblastoma in a Neonate

“…Normal development of the diaphragm occurs during the fifth and seventh week of gestation by the fusion of the mesenchymal septum transversum and the pleuroperitoneal folds (PPF) [ 25 ]. Key factors for the proper fusion of the PPF are the muscle progenitors which migrate from the somites into the PPF as well as the projection of the phrenic nerve from the C3–C5 segment into the PPF [ 26 , 27 ].…”

“…In a literature review published in 2019, Mito et al reported no more than 19 cases of liver heterotopia associated with CDH. It is noteworthy that of the 19 described cases, none coincided with tumorization [ 25 ]. Neither article discussed an embryogenetic connection of CDH and ectopic liver.…”

“…The endodermal liver bud first appears three weeks after gestation and bone morphogenetic proteins released by the septum transversum lead to development of the liver [ 25 ]. An important chemo-attractant which determines the direction of liver development appears to be neurturin (NRTN), which is expressed by the ductus venosus.…”