Abstract
Introduction and importance
Asplenia syndrome, along with its associated congenital abnormalities such as diaphragmatic hernia and scoliosis, presents significant diagnostic and therapeutic challenges. This case highlights the complexity of surgical management of a hiatal hernia in a pediatric patient with congenital scoliosis and asplenia syndrome, which was associated with multiple congenital anomalies, including congenital heart disease and gastrointestinal malformations. The case underscores the necessity of a multidisciplinary and coordinated surgical approach to optimize patient outcomes.
Case presentation
A 3-year-old female with a history of transposition of the great arteries, atrioventricular septal defect, secondary atrial septal defect, and pulmonary stenosis presented with congenital scoliosis, postprandial dyspnea, and choreiform movements. Radiological evaluation revealed scoliosis due to hemivertebrae and a large hiatal diaphragmatic hernia, with herniation of the stomach and pancreas into the thoracic cavity within the hernia sac.
Clinical discussion
In cases like this, surgical intervention primarily aims to relieve respiratory distress and enhance gastrointestinal function. The strategy employed in this instance involved reducing the herniated stomach, reestablishing the position of the pylorus without performing fundoplication, and repairing the esophageal hiatus by approximating the diaphragmatic crura.
Conclusion
This case emphasizes the critical role of early surgical intervention in patients with complex congenital defects to alleviate symptoms and prevent complications. A timely, well-coordinated surgical approach resulted in favorable postoperative outcomes, with resolution of gastrointestinal symptoms and improved quality of life.
Keywords: Asplenia syndrome, Intestinal malrotation, Scoliosis, Congenital cardiac abnormalities
Highlights
-
•
Asplenia syndrome (AS) is often associated with complex congenital heart diseases and gastrointestinal abnormalities
-
•
The most common condition linked to asplenia is heterotaxy syndrome
-
•
Congenital diaphragmatic hernia (CDH) is a severe anomaly associated with asplenia
1. Introduction
Asplenia syndrome (AS) is a congenital disorder that arises from abnormal lateralization during fetal development and is frequently associated with complex congenital heart disease. It commonly presents with a spectrum of gastrointestinal abnormalities, including hiatal hernia, gastric volvulus, and intestinal malrotation, which can further complicate clinical management [1]. AS may occur as an isolated anomaly or more frequently as part of heterotaxy syndrome, a condition characterized by right atrial isomerism and often accompanied by severe structural cardiac malformations. The estimated incidence of heterotaxy syndrome ranges from 1 in 10,000 to 40,000 live births [2,3].
Asplenia can have both congenital and acquired etiologies. Congenital asplenia typically results from genetic conditions such as heterotaxy syndrome or from environmental insults during gestation. In contrast, acquired asplenia may arise following splenectomy or due to pathological processes including immune thrombocytopenic purpura (ITP), thalassemia, hereditary spherocytosis, traumatic splenic rupture, malignancy, or autosplenectomy secondary to sickle cell disease [4]. A hallmark diagnostic feature of congenital or functional asplenia is the presence of Howell-Jolly bodies in peripheral blood smears. In pediatric patients with congenital heart disease, routine screening for Howell-Jolly bodies is essential. Their detection should prompt further evaluation of splenic function using imaging modalities such as ultrasonography, computed tomography (CT), magnetic resonance imaging (MRI), or spleen scintigraphy [2].
Several studies have demonstrated an association between congenital scoliosis and anomalies in extra-spinal organ systems, including the spinal cord, urogenital structures, cardiovascular system, and gastrointestinal tract. However, no study has specifically examined the occurrence of hiatal hernia within the context of asplenia syndrome in patients with congenital scoliosis. To date, only a single case has been reported in a retrospective study of 305 patients investigating organ system anomalies associated with congenital scoliosis, where a patient was identified with both congenital scoliosis and visceral heterotaxy [3,4,5].
This case report presents a 3-year-old female with asplenia syndrome, congenital scoliosis, and associated cardiac abnormalities, who was found to have a large hiatal diaphragmatic hernia. The complexity of her condition necessitated a multidisciplinary approach to management, including careful monitoring of her overall health and prioritization of surgical interventions. The decision-making process for her treatment emphasized the importance of addressing the gastrointestinal pathology first, particularly the hiatal hernia, prior to considering potential surgical interventions for her skeletal and cardiac abnormalities. This report aims to contribute to the understanding of the interplay between congenital scoliosis, asplenia syndrome, and gastrointestinal anomalies, while highlighting the significance of an individualized and staged approach to surgical correction in such complex cases.
2. Methods
The work has been reported in line with the SCARE criteria [14].
3. Case presentation
A 3-year-old female patient was admitted to the hospital presenting with symptoms of thoracic scoliosis, postprandial dyspnea, and choreiform movements. Her medical history revealed a congenital heart defect characterized by transposition of the great arteries (TGA), a atrioventricular septal defect, a secondary atrial septal defect (ASD), and pulmonary stenosis. The patient had been receiving ongoing treatment with Furosemide and Inderal.
Upon clinical examination, thoracic scoliosis was noted. A plain chest X-ray revealed thoracic scoliosis, specifically a lateral curvature of the thoracic spine (Fig. 1). A computed tomography (CT) scan demonstrated a herniation of the stomach through the esophageal hiatus into the right thoracic cavity, accompanied by congenital scoliosis characterized by hemivertebrae in the thoracic vertebrae (Fig. 2). The radiopaque image further confirmed the presence of the stomach in the right thoracic cavity (Fig. 3).
Fig. 1.
Chest x ray.
Fig. 2.
Computed tomography demonstrates a herniation of the stomach through the esophageal hiatus into the right thoracic cavity.
Fig. 3.
A radiopaque image shows the herniation of the stomach through the esophageal hiatus into the right thoracic cavity.
Surgical intervention was planned, and a midline incision above the umbilicus was made. Intraoperatively, the right and left lobes of the liver were observed, as well as an anomaly in the inferior vena cava. A large hiatal hernia containing the stomach and pancreas was identified within the hernia sac. Upon further exploration, it was found that the stomach and pancreas had migrated into the thoracic cavity, and the esophagus was shortened. The stomach was not fixed, located in the right hypochondrium, with the pylorus positioned anterior to the hepatic umbilicus and in contact with the duodenum within the peritoneal cavity. Additionally, this abnormality was associated with the presence of a preduodenal portal vein and pancreas divisum without clinical symptoms (intestinal obstruction, jaundice, pancreatitis). Furthermore, the intestine exhibited a non-rotated position, consistent with the clinical presentation.
The pancreas was noted to consist of two parts, positioned on either side of the stomach outlet, simulating fetal migration patterns. This contrasted with its normal location behind the peritoneum. Based on these findings, the decision was made to reposition the stomach to the left side after excising the hernia sac and freeing the abdominal esophagus. This procedure was carried out to ensure that the pylorus would not twist around the umbilicus. The esophageal hiatus was narrowed and supported with sutures, as it was found to be excessively wide, and the diaphragmatic pedicles were approximated. Importantly, no gastric plication was necessary. The non-rotating position of the intestine was addressed by releasing Ladd's bands and removing the appendix, without the need to expand the mesenteric root (Fig. 4).
Fig. 4.
Malrotation.
Postoperatively, enteral feeding was initiated approximately 48 h after the procedure. Monitoring revealed no signs of early satiety, pain, vomiting, or indigestion. The patient's condition remained stable, and the recovery progressed without complications.
4. Discussion
Asplenia syndrome (AS) is a rare and complex congenital condition characterized by a spectrum of developmental anomalies that result in abnormal body asymmetry, most notably with bilateral right-sidedness. This condition is frequently associated with severe congenital heart defects, which have historically contributed to high mortality rates. However, advancements in pediatric cardiac surgery have significantly improved long-term outcomes for affected individuals, offering more favorable prognoses [5,6].
In addition to cardiovascular anomalies, there is increasing recognition of associated gastrointestinal abnormalities in AS. Patients often present with various gastrointestinal malformations, including organ malposition, malrotation, hiatal hernia, and malfixation of abdominal organs. These anomalies contribute to a wide array of clinical symptoms that vary in presentation and severity [7,8].
The present case involves a 3-year-old female patient with multiple cardiac anomalies and no history of prior surgical intervention. She exhibited clinical features including lateral spinal curvature, early satiety, and postprandial dyspnea. Imaging revealed torsion of the intestines, indicative of a congenital, often asymptomatic condition, accompanied by gastric herniation and partial volvulus. A chest X-ray identified scoliosis, prompting further evaluation via computed tomography (CT), which demonstrated a diaphragmatic hernia with the entire stomach herniated into the right thoracic cavity. Congenital scoliosis due to hemivertebrae was also confirmed. An upper gastrointestinal contrast study corroborated the abnormal positioning and partial volvulus of the stomach within the thoracic cavity, along with delayed contrast passage. Laboratory test results were within normal limits.
Based on these findings, an urgent surgical intervention was scheduled shortly after the radiological diagnosis to repair the hiatal hernia. Intraoperatively, multiple anatomical anomalies consistent with heterotaxy syndrome were discovered. These included transposition of the great arteries (TGA), a left-sided inferior vena cava, medially positioned liver and gallbladder, and confirmed asplenia. Additional findings included intestinal non-rotation, a preduodenal portal vein, and a large hiatal hernia containing both the stomach and pancreas.
Notably, anatomical abnormalities such as a short esophagus and crural dysplasia were present, both of which increase the risk for large hiatal hernias. The stomach was fixed in the left abdomen without a fundoplication procedure to prevent volvulus, which can occur due to the shortened distance between the pylorus and the gastric fundus resulting from malfixation. The diaphragmatic crura were plicated, and the central diaphragmatic defect was closed at the level of the esophageal hiatus to prevent recurrence of gastric herniation. Although the presence of TGA was confirmed intraoperatively, the surgical approach used was not directly related to its diagnosis but rather addressed the gastrointestinal manifestations.
Regarding the preduodenal portal vein, a gastrojejunostomy was not performed to bypass it, as such a procedure could have resulted in mechanical gastric outlet obstruction. Gastric emptying normalized after the stomach was repositioned and stabilized within the abdominal cavity.
The intestines were left in a non-rotated configuration, and an appendectomy was performed. The pancreatic tissue, which was mobile and associated with gastric vessels, was also repositioned into the abdominal cavity. The surgical approach adhered to current standards for addressing complex gastrointestinal anomalies in the context of heterotaxy and AS.
The timing of surgery is crucial in optimizing outcomes for patients with diaphragmatic hernia and associated anatomical anomalies. A timely, individualized surgical plan is essential to prevent complications and improve gastrointestinal function. This case highlights the importance of prompt intervention, as delayed or inadequate management can lead to worsening symptoms and increased risk of gastric volvulus, a known complication of AS due to stomach malfixation [9].
A review of the literature reveals only one previously documented case associating congenital scoliosis with visceral heterotaxy and diaphragmatic hernia [5]. This underscores the rarity and complexity of such presentations, which require a coordinated, multidisciplinary approach involving pediatric cardiology, surgery, and orthopedics [6,7].
Surgical management in these cases focuses on directly correcting gastrointestinal abnormalities to alleviate symptoms. In this case, the approach included reducing the herniated stomach, repositioning the pylorus without fundoplication, and repairing the esophageal hiatus by approximating the diaphragmatic crura. Fundoplication was avoided due to anatomical constraints such as brachyesophagus, microgastria, and hypoplasia of the esophageal hiatus, which complicate standard antireflux procedures [9,10].
Postoperative monitoring revealed favorable outcomes. The patient reported no early satiety, vomiting, or dyspepsia, indicating successful resolution of mechanical gastrointestinal issues. Enteral feeding was well tolerated within 48 h post-surgery, a positive indicator of recovery following complex surgical intervention [[9], [10], [11], [12], [13]].
Additionally, the patient's intestinal malrotation was addressed during surgery. This involved the release of Ladd's bands, repositioning of the intestines, and an appendectomy. Although the intestines were left in a non-rotated state, the surgical correction aimed to prevent volvulus, a potentially life-threatening complication. This management approach aligns with established recommendations for treating malrotation and minimizing the risk of obstruction [6,8,11,12].
The patient's respiratory status and oral tolerance were monitored postoperatively, with gradual reintroduction of nutrition over a week. No symptoms or clinical signs of gastric outlet obstruction were observed. The patient was discharged with oral antibiotics, analgesics, and a semi-solid diet for one week. A follow-up evaluation revealed no complications, and care coordination continued with cardiology and orthopedic clinics to manage underlying scoliosis and cardiac anomalies.
Despite the successful surgical outcome, long-term follow-up is critical for patients with complex congenital anomalies. Given this patient's underlying cardiac disease and the potential for recurrent gastrointestinal or respiratory complications, ongoing monitoring for gastroesophageal reflux, feeding difficulties, and progression of scoliosis is essential. Early identification and intervention remain key to improving long-term quality of life and reducing morbidity in patients with AS [[7], [8], [9], [10],13]. Postoperative management of asplenia includes vaccination against Streptococcus pneumoniae, Haemophilus influenzae type b, and Neisseria meningitidis, along with prophylactic antibiotics during early childhood. Caregivers should be educated on recognizing infection symptoms, as asplenic patients are at high risk for severe infections and require prompt medical attention when febrile [10,11,12,13].
5. Conclusion
This case underscores the critical importance of a multidisciplinary approach in managing patients with complex congenital anomalies. The patient, presenting with a combination of congenital heart disease, diaphragmatic hernia, and intestinal malrotation, necessitated prompt and coordinated surgical intervention. The successful resolution of her symptoms postoperatively highlights the value of early intervention, consistent with previous studies emphasizing the timely management of such cases.
However, the lessons learned from this case can guide future clinical practice. Key recommendations include the necessity for thorough preoperative evaluation, incorporating both cardiovascular and gastrointestinal considerations, to optimize surgical outcomes. In terms of surgical management, particular attention should be given to the anatomical challenges presented by conditions like diaphragmatic hernia and intestinal malrotation. Surgical pearls such as careful management of the esophageal hiatus, attention to the mobility of the stomach, and appropriate correction of any organ malpositioning are critical to avoid postoperative complications, including gastric volvulus or duodenal obstruction.
Furthermore, long-term follow-up remains essential to monitor for potential complications and ensure optimal outcomes. Regular surveillance for gastrointestinal symptoms, scoliosis progression, and cardiovascular stability should be part of the ongoing care plan. As with similar complex congenital cases, a collaborative approach involving pediatric cardiology, pediatric surgery, and gastrointestinal specialists is paramount to providing comprehensive care.
Consent for publication
Written informed consent was obtained from the patient's parents/legal guardian for publication and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.
Ethical approval
Ethics approval is not required for case reports deemed not to constitute research at our institution (Hama University)
Funding
N/A
Author contribution
MS wrote a part of the manuscript.
AA wrote a part of the manuscript.
HZ wrote a part of the manuscript.
MA wrote a part of the manuscript.
M.AB. wrote a part of the manuscript.
ZB wrote a part of the manuscript.
All authors approved the final manuscript.
Guarantor
Guarantor Author is: Mouhammed Sleiay.
Research registration number
N/A because this research is a case report.
Provenance and peer review
Not commissioned, externally peer-reviewed.
Declaration of Generative AI and AI-assisted technologies in the writing process
Any AI was not used in the research and manuscript development.
Conflict of interest statement
N/A
Acknowledgments
We hope to thank SMSR Team Lab. for their efforts and bringing our team together.
Data availability
Not applicable.
References
- 1.Fukumoto K., Yamoto M., Nouso H., Kaneshiro M., Koyama M., Urushihara N., Miyake H. Surgical Management of Hiatal Hernia in children with Asplenia syndrome. Eur. J. Pediatr. Surg. 2016;27(03):274–279. doi: 10.1055/s-0036-1592135. [DOI] [PubMed] [Google Scholar]
- 2.Erdem S.B., Genel F., Erdur B., Ozbek E., Gulez N., Mese T. Case report Asplenia in children with congenital heart disease as a cause of poor outcome. Central European Journal of Immunology. 2015;(2):266–269. doi: 10.5114/ceji.2015.52841. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 3.Antiel R.M., Riley J.S., Cahill P.J., Campbell R.M., Waqar L., Herkert L.M., Rintoul N.E., Peranteau W.H., Flake A.W., Adzick N.S., Hedrick H.L. Management and outcomes of scoliosis in children with congenital diaphragmatic hernia. J. Pediatr. Surg. 2016;51(12):1921–1925. doi: 10.1016/j.jpedsurg.2016.09.013. [DOI] [PubMed] [Google Scholar]
- 4.Ahmed S.A., Zengeya S., Kini U., Pollard A.J. Familial isolated congenital asplenia: case report and literature review. Eur. J. Pediatr. 2009;169(3):315–318. doi: 10.1007/s00431-009-1030-0. [DOI] [PubMed] [Google Scholar]
- 5.Ota N., Fujimoto Y., Murata M., et al. Improving outcomes of the surgical management of right atrial isomerism. Ann. Thorac. Surg. 2012;93(3):832–838. doi: 10.1016/j.athoracsur.2011.05.110. discussion 838-839. [DOI] [PubMed] [Google Scholar]
- 6.Bartz P.J., Driscoll D.J., Dearani J.A., et al. Early and late results of the modified fontan operation for heterotaxy syndrome 30 years of experience in 142 patients. J. Am. Coll. Cardiol. 2006;48(11):14:23012305. doi: 10.1016/j.jacc.2006.07.053. [DOI] [PubMed] [Google Scholar]
- 7.Mishalany H., Mahnovski V., Woolley M. Congenital asplenia and anomalies of the gastrointestinal tract. Surgery. 1982;91(1):3841 [PubMed] [Google Scholar]
- 8.Mitsunaga M., Urushihara N., Fujimoto Y., Sakamoto K. Management of gastrointestinal malformations in children with asplenia syndrome [in Japanese] Nippon Geka Gakkai Zasshi. 2011;112(4):250–254. [PubMed] [Google Scholar]
- 9.Nakada K., Kawaguchi F., Wakisaka M., Nakada M., Enami T., Yamate N. Digestive tract disorders associated with asplenia/polysplenia syndrome. J. Pediatr. Surg. 1997;32(1):9194. doi: 10.1016/s0022-3468(97)90103-2. [DOI] [PubMed] [Google Scholar]
- 10.Fuse M., Sugamoto K., Kuwata S., Sekiya R., Kawada K., Toki M., Kaneko M., Iwamoto Y., Ishido H., Masutani S., Kenmochi M., Saiki H., Senzaki H. Blood reservoir function in patients with Fontan circulation and asplenia syndrome. Cardiol. Young. 2019;29(8):1016–1019. doi: 10.1017/S104795111900129X. 31221238 [DOI] [PubMed] [Google Scholar]
- 11.Pahys J.M., Guille J.T. What’s new in congenital scoliosis? J. Pediatr. Orthop. 2018;38:e172–e179. doi: 10.1097/BPO.0000000000000922. [DOI] [PubMed] [Google Scholar]
- 12.Bollini G., Launay F., Docquier P.L., et al. Congenital abnormalities associated with hemivertebrae in relation to hemivertebrae location. J. Pediatr. Orthop. B. 2010;19:90–94. doi: 10.1097/BPB.0b013e3283327f57. [DOI] [PubMed] [Google Scholar]
- 13.Furdock Ryan B.S., Brouillet Kirsten B.S., Luhmann Scott J.M.D. Organ system anomalies associated with congenital scoliosis: a retrospective study of 305 patients. J. Pediatr. Orthop. 2019;39(3):e190–e194. doi: 10.1097/BPO.0000000000001279. [DOI] [PubMed] [Google Scholar]
- 14.Kerwan A., Al-Jabir A., Mathew G., Sohrabi C., Rashid R., Franchi T., Nicola M., Agha M., Agha R.A. Revised surgical CAse REport (SCARE) guideline: an update for the age of artificial intelligence. Premier Journal of Science. 2025;10 100079. [Google Scholar]
Associated Data
This section collects any data citations, data availability statements, or supplementary materials included in this article.
Data Availability Statement
Not applicable.