Atypical presentation of congenital diaphragmatic hernia with gastric ischemia and coffee-ground emesis in late infancy: a case report and literature review

Abstract

Background

Congenital diaphragmatic hernia (CDH) is typically diagnosed in the prenatal or immediate postnatal period. Late-presenting CDH is rare and can have varied, nonspecific symptoms. Upper gastrointestinal bleeding is an uncommon initial manifestation.

Case presentation

We present the case of an 11-month-old male infant with respiratory distress and coffee-ground emesis. Initial imaging revealed a large left-sided diaphragmatic hernia with mediastinal shift. Laparotomy showed herniation of stomach, small intestine, and spleen, with gastric ischemia and subcapsular splenic hematoma. Resection of the ischemic gastric segment and diaphragmatic repair were performed. The postoperative course was uneventful until a febrile episode revealed a urinary tract infection and moderate to severe left-sided hydronephrosis.

Conclusion

This case highlights the importance of considering late-presenting CDH in the differential diagnosis of upper GI bleeding and respiratory distress in infants, and the need for thorough evaluation of associated anomalies. Clinicians should maintain a high index of suspicion for diaphragmatic hernia in infants with unexplained GI bleeding and respiratory distress.

Introduction

Congenital diaphragmatic hernia (CDH) is a developmental anomaly characterized by a defect in the diaphragm, allowing abdominal organs to herniate into the thoracic cavity. This condition typically presents in the neonatal period with respiratory distress due to pulmonary hypoplasia and pulmonary hypertension. However, a subset of CDH cases, known as late-presenting CDH (LPCDH), manifests beyond the neonatal period, often leading to diagnostic challenges due to nonspecific symptoms [1].

The incidence of LPCDH varies, accounting for approximately 5% to 25% of all CDH cases [2, 3]. These patients may present with a spectrum of gastrointestinal or respiratory symptoms, including vomiting, abdominal pain, chronic cough, or recurrent respiratory infections. Such presentations can mimic other common pediatric conditions, leading to misdiagnosis or delayed diagnosis [3].

Imaging studies, particularly chest radiographs and computed tomography (CT) scans, play a crucial role in the diagnosis of LPCDH [4]. However, the variability in clinical presentation often necessitates a high index of suspicion to prompt appropriate imaging and timely diagnosis [5]. Surgical intervention remains the definitive treatment, with outcomes generally favorable when diagnosis and management are not delayed [3].

This case report discusses an 11-month-old male infant presenting with upper gastrointestinal bleeding and respiratory distress, ultimately diagnosed with a left-sided Bochdalek hernia. The case underscores the importance of considering LPCDH in the differential diagnosis of infants presenting with atypical gastrointestinal and respiratory symptoms.

Case presentation

An 11-month-old male infant weighing 7.3 kg was referred to the pediatric surgery department with a one-day history of respiratory distress, multiple episodes of non-projectile, non-bilious coffee-ground emesis of moderate volume, decreased oral intake, and lethargy. The child had been in his usual state of health until the day prior to presentation. There was no history of fever, diarrhea, trauma, altered consciousness, or signs of abuse. No dysmorphic features were observed.

On physical examination, the patient appeared ill, pale, and mildly to moderately dehydrated, without jaundice. He was hypoactive and exhibited respiratory distress characterized by tachypnea, subcostal retractions, and grunting, with no evidence of cyanosis. Two large-bore intravenous cannulas were in place, and a nasogastric (NG) tube was inserted, draining approximately 150 mL of coffee-ground fluid. Chest auscultation revealed decreased air entry on the left side. Abdominal examination was notable for mild upper abdominal tenderness without palpable masses. Genital examination revealed uncircumcised hypospadias; the rectum was patent and the inguinal regions were normal.

The patient had a medical history of cow’s milk protein allergy, mild supravalvular pulmonary stenosis, and chronic constipation. He was born vaginally at 30 + 1 weeks of gestation with a birth weight of 1360 g and required a neonatal intensive care unit (NICU) admission for respiratory distress syndrome at birth. Based on available electronic medical records from prior hospitalizations, no congenital diaphragmatic abnormality had been documented during that admission.

A chest X-ray performed at the referring hospital revealed a large air-filled structure occupying most of the left hemithorax with rightward mediastinal shift (Fig. 1A). A repeat X-ray after NG tube placement demonstrated the tube coursing into the intrathoracic viscus (Fig. 1B). A subsequent non-contrast CT scan confirmed a left-sided diaphragmatic defect with herniation of a hollow viscus into the thoracic cavity and significant mediastinal shift (Fig. 2). Based on these findings and the patient’s clinical deterioration, he was admitted to the Pediatric Intensive Care Unit (PICU) for further stabilization.

Fig. 4.

A: Resected ischemic segment of the gastric wall closed with interrupted absorbable sutures. B: Edge of the diaphragmatic defect during surgical repair

Fig. 1.

A; Chest X-ray prior to NG tube insertion showing a large hollow viscus occupying the left hemithorax with mediastinal shift, B: Chest X-ray after NG tube insertion demonstrating intrathoracic positioning of the tube

Fig. 2.

CT scan confirming herniation of a hollow viscus through the left hemidiaphragm with rightward mediastinal shift. (A) Sagittal CT image demonstrating a large hollow viscus occupying the hemithorax with compression of the adjacent lung. (B) Coronal CT image confirming intrathoracic herniation through the left hemidiaphragmatic defect with marked rightward mediastinal displacement

Initial vital signs included: heart rate 164 bpm, respiratory rate 42 breaths/min, blood pressure 80/55 mmHg, temperature 38 °C, and oxygen saturation of 98% on room air. Laboratory studies showed: hemoglobin 13.2 g/dL, white blood cell count 22.7 × 10⁹/L (neutrophils 71%, lymphocytes 20%), hematocrit 38.5%, platelet count 303 × 10⁹/L. Renal function, electrolytes, and coagulation profile were within normal limits. A mild elevation in lactic acid was observed. The patient’s blood group was O positive.

Following resuscitation with intravenous fluids and blood transfusion, the patient was taken to the operating room for exploratory laparotomy via a left subcostal incision. Intraoperatively, herniation of most of the small intestine, the stomach, and the spleen into the left thoracic cavity through a posterolateral diaphragmatic defect measuring approximately 4 cm was identified. Incomplete intestinal rotation was also noted. After reduction of the herniated organs, a subcapsular hematoma in the upper pole of the spleen and an area of ischemia on the anterior wall of the stomach were noted (Fig. 3).

Fig. 3.

Intraoperative views demonstrating splenic subcapsular hematoma (A–C) and gastric wall ischemia (A–B)

The ischemic gastric segment was resected and closed using interrupted absorbable sutures (Fig. 4A). The diaphragmatic defect was repaired with interrupted non-absorbable multifilament sutures (Fig. 4B), and free intrathoracic air was evacuated. Widening of the root of the mesentery was performed, followed by an incidental appendectomy. A Jackson-Pratt (JP) drain was placed in the left subphrenic space before abdominal closure. The patient was then transferred back to the PICU for postoperative care.

The postoperative course was uneventful initially. Oral intake was resumed with sips of water on postoperative day 3, and the JP drain was removed. A postoperative chest radiograph showed resolution of the intrathoracic herniation (Fig. 5).

Fig. 5.

Postoperative chest X-ray showing resolution of herniation and normalized thoracic anatomy

However, on postoperative day 5, the patient developed a fever. Urinalysis and urine culture confirmed a urinary tract infection (UTI), and renal ultrasound revealed moderate to severe left-sided hydronephrosis with a ballooned renal pelvis measuring approximately 3 × 2.5 cm and a diffusely thinned cortex measuring about 2–3 mm of the upper renal moiety and 4–5 mm of the lower moiety, suggestive of possible pelviureteric junction (PUJ) obstruction, PUJ stenosis, or vesicoureteral reflux (VUR). A follow-up renal ultrasound performed four days later showed no significant changes. The infection was successfully treated with antibiotics based on culture sensitivity.

As a part of the postoperative urologic evaluation, a micturating cystourethrogram (MCUG) demonstrated Grade III + to IV low-pressure left-sided VUR, which intensified on voiding, outlining a moderately dilated and slightly tortuous left ureter, a markedly dilated renal pelvis, and a moderately dilated upper pole duplication that reunites with the renal pelvis. A DMSA (dimercaptosuccinic acid) scan confirmed reduced left renal function (25%), revealing an enlarged kidney with mildly decreased overall tracer uptake and relatively reduced uptake in the lower pole, consistent with mildly preserved function and no evidence of cortical scarring.

The patient was discharged in stable condition following completion of the antibiotic course. During outpatient follow-up, the patient remained clinically well. Renal ultrasound demonstrated a small left kidney (4.5 cm) with mild hydronephrosis in the lower pole. Both kidneys were normal in position; the right kidney measured 6 cm in length with normal shape and echogenicity. The patient has since been followed by the pediatric urology and pediatric nephrology teams as part of a multidisciplinary management approach.

Discussion

Late-presenting CDH is a rare but recognized clinical entity, accounting for approximately 5–25% of all CDH cases [3, 6–8]. Its symptoms are often nonspecific and misleading, ranging from chronic respiratory complaints to gastrointestinal manifestations, which contribute to frequent misdiagnosis [5, 6]. Among these, UGIB — particularly coffee-ground emesis — is exceedingly rare as an initial presenting symptom. To our knowledge, only a limited number of reports describe UGIB as the initial sign of late-presenting CDH [9, 10]. Our case, therefore, represents a highly atypical presentation and offers new insight into the expanding clinical spectrum of this anomaly.

Our patient presented with compensated tension gastrothorax, evidenced by left-sided diaphragmatic herniation, mediastinal shift, and gastric ischemia, yet notably without signs of cardiovascular collapse. The presence of only mild tachycardia likely reflects an early stage of physiologic decompensation. This pattern is consistent with the “compensated phase” of gastrothorax described by Al Ghafri et al. [1], where prompt imaging and decompression prevented progression to life-threatening circulatory failure.

Radiographic clues such as a large intrathoracic air-filled structure and NG tube looping into the thorax were diagnostic linchpins. This aligns with findings in Zefov et al. and others who stressed the diagnostic value of NG tube placement and abnormal gastric positioning on imaging [11]. Nevertheless, diaphragmatic eventration represents an important and diagnostically challenging differential diagnosis, as it may closely mimic a true diaphragmatic hernia radiologically. As highlighted by Shwaartz et al. (2017), definitive differentiation between these entities is often only possible at the time of surgical exploration [12]. In our case, intraoperative findings confirmed a true diaphragmatic defect rather than eventration, thereby validating the diagnosis of diaphragmatic hernia and excluding eventration as an alternative explanation for the radiographic findings. Although point-of-care ultrasound may assist in stable cases, CT remains the definitive modality for diagnosis in symptomatic patients, particularly when ischemia or strangulation is suspected.

Surgical intervention was emergent in our case due to the presence of UGIB and compromised gastric perfusion. While laparoscopic repair has become increasingly common in elective CDH cases, we selected exploratory laparotomy for several critical reasons. First, respiratory distress suggested borderline physiologic status, and laparoscopy may exacerbate such conditions through CO₂ insufflation, impairing venous return and ventilation. Second, the presence of UGIB mandated comprehensive intra-abdominal exploration to assess for gastric necrosis or ulceration, which is more readily achieved via laparotomy. Third, the 4 cm diaphragmatic defect posed technical challenges for minimally invasive repair, especially in the setting of inflamed and ischemic tissue. This approach aligns with the strategy advocated by Ayala et al., who emphasized open repair when managing volvulus or ischemic complications in pediatric CDH [9].

Intraoperatively, we identified both gastric wall ischemia and a splenic subcapsular hematoma. While chronic herniation may cause such findings, the complete absence of prior symptoms in our patient points instead toward acute mechanical vascular compromise. The gastric wall ischemia is mostly related to acute herniation of the stomach into the thoracic cavity, resulting in mechanical compression and transient compromise of gastric perfusion, likely mediated by venous congestion. Although no gastric volvulus was identified intraoperatively, a transient or partial mesenteroaxial rotation during herniation cannot be entirely excluded. In addition, the presence of incomplete intestinal rotation may have increased visceral mobility, potentially predisposing to transient vascular compromise during herniation. Similarly, the splenic subcapsular hematoma can be explained by mechanical traction and compression of the spleen during acute herniation and subsequent reduction. A minor iatrogenic contribution during surgical manipulation cannot be entirely excluded, particularly in the setting of a displaced and congested spleen.

This distinction parallels cases like that described by Ibdah et al. and Koh et al., where acute presentation with nonspecific respiratory and GI symptoms culminated in a similar emergent diagnosis [10, 13]. This underscores the risk of vascular compromise in delayed presentations of CDH, even in previously asymptomatic individuals. Prior to the acute onset, chest radiographs are often unremarkable or obtained for unrelated reasons. However, in the presence of a pre-existing diaphragmatic defect, a sudden increase in intra-abdominal pressure can precipitate the herniation of abdominal organs into the thoracic cavity (2). Compared to defects identified in the neonatal period, late-presenting CDH defects are typically smaller [14]. In some cases, adjacent organs such as the spleen may act as a temporary barrier, partially shielding the defect and delaying herniation of other abdominal contents until a triggering event occurs [15].

When comparing our case to others in the literature, Ayala et al. reported a case of gastric volvulus associated with CDH that involved hemorrhagic output; however, the pathology was reversible and did not result in frank gastric ischemia [9]. Kim and Chung emphasized the frequent diagnostic delays and misinterpretations in late-presenting CDH, with most cases manifesting only as dyspnea or abdominal pain [6]. In contrast, Bagłaj’s review of 362 cases of late-presenting CDH found vomiting to be a relatively common symptom, but notably, none of the cases clearly documented UGIB as the initial presenting complaint [3]. Taken together, these findings reinforce the novelty of our case, which uniquely combines acute gastric ischemia, upper GI bleeding, and splenic hematoma without prior signs or chronicity.

Furthermore, our case is distinguished by presence of hypospadias and the incidental postoperative identification of vesicoureteral reflux (VUR), both are urologic anomalies less commonly reported in association with CDH. While most congenital anomalies associated with CDH involve the cardiac or gastrointestinal systems [16], urinary tract abnormalities such as VUR are Infrequently emphasized, particularly when not known during the initial presentation. VUR is often identified postnatally in infants with antenatally detected fetal hydronephrosis [17], yet in the context of CDH, such findings may be overlooked. Our patient’s VUR was detected only after a postoperative febrile urinary tract infection and subsequent imaging, highlighting how urologic issues may remain clinically silent until triggered or unmasked during the postoperative period. Although VUR can be asymptomatic, it can lead to progressive urinary tract dilation, renal scarring, and eventual dysfunction if not recognized and managed in a timely manner [18]. This association is clinically relevant because the primary focus in CDH cases is usually on respiratory and gastrointestinal compromise, which may delay identification of coexisting urologic abnormalities. Our case underscores the importance of considering postoperative renal evaluation in CDH patients, especially when recovery deviates from the expected course. Early detection and long-term monitoring can help prevent progressive renal damage in such patients.

In conclusion, this case broadens the clinical understanding of late-presenting CDH by documenting UGIB as a sentinel symptom. It underlines the importance of maintaining a high index of suspicion in infants with unexplained gastrointestinal or respiratory symptoms. Timely multimodal imaging and surgical decision-making are essential to prevent catastrophic complications and to optimize outcomes.

Conclusion

This case highlights the need for prompt recognition of CDH even beyond the neonatal period, particularly in the setting of upper GI symptoms. The potential for rapid progression to gastric ischemia underscores the urgency of surgical evaluation. Coexisting anomalies, such as VUR in our patient, may also complicate recovery and warrant comprehensive postoperative screening.

Author contributions

L.J.M.S., R.A.D., R.M.Q., A.A., and J.S. were major contributors in article writing and editing various drafts of the manuscript. L.J.M.S., R.A.D. and R.M.Q. drafted the paper and critically reviewed the manuscript. All authors reviewed and approved the final manuscript.

Funding

All author(s) received no financial support for the research, authorship, and/or publication of this article.

Data availability

No datasets were generated or analysed during the current study.

Declarations

Competing interests

The authors declare no competing interests.