Surgical management of foregut duplication cyst existing with a congenital diaphragmatic hernia: A case report.

INTRODUCTION: There have been two cases of congenital diaphragmatic hernia associated with a gastroesophageal duplication cyst documented in the literature, both presented symptomatically in the newborn period. This case is unique given the patient presented in adolescence asymptomatically. PRESENTATION OF CASE: We present a case of a 15-year-old female who initially presented with lower abdominal pain. A CT chest and abdomen was concerning for a moderate to large hiatal vs diaphragmatic hernia and an adjacent 4.3 cm lower mediastinal cyst. Though asymptomatic, the patient underwent diagnostic thoracoscopy with cyst excision. On post operative day one, the patient endorsed severe uncontrolled abdominal pain with multiple bouts of non-bilious emesis. Chest X-ray and upper GI were positive for herniation of the stomach through the diaphragm. The patient was taken back to the operating room emergently for diagnostic thoracoscopy where the stomach was found herniated through a diaphragmatic defect with no evidence of necrosis. The stomach was reduced into the abdominal cavity. The patient tolerated this procedure well, recovered appropriately and was seen two-weeks post-operatively fully recovered. DISCUSSION: Better visualization and thorough tactile check of the diaphragmatic defect during the initial operation would increase the chance of detecting a defect in the diaphragm immediately and avoid subsequent herniation of abdominal contents. CONCLUSION: When Foregut duplication cysts exist near the diaphragm it is critical to get a thorough view of the anatomy and ensure no diaphragmatic defect exits.

Clinical challenges and management of late presenting congenital diaphragmatic hernia mimicking tension pneumothorax in a child: a case report and review of literatures.

BACKGROUND: Congenital diaphragmatic hernia(CDH) is a rare congenital anomaly characterized by herniation of abdominal contents into thoracic cavity through a defect in diaphragm. While commonly diagnosed prenatally or in neonatal period, late-presenting CDH can occur and may mimic other thoracic emergencies such as tension pneumothorax, complicating diagnosis and management. CASE PRESENTATION: A two-year old male black child from Ethiopia presented to the emergency department with sudden onset of acute respiratory distress. Initial clinical assessment and chest radiography suggested a diagnosis of tension pneumothorax due to the presence of significant mediastinal shift and apparent pleural air. Despite insertion of chest tube, the child's condition did not improve, raising suspicion of alternative diagnosis. Careful observation of initial chest x-ray and subsequent chest ultrasound revealed a left sided congenital diaphragmatic hernia with herniation of stomach and intestine into thoracic cavity compressing the left lung and causing mediastinal shift. After the diagnosis of CDH was confirmed, the child was stabilized and emergent surgical repair performed. Postoperative recovery was uneventful, and the child was discharged with no significant long-term complications. CONCLUSION: This case underscores the importance of considering CDH in the differential diagnosis of acute respiratory distress in a child. It highlights the diagnostic challenges and potential risks of emergency interventions based on initial misdiagnosis. Even if x -ray looks like typical of tension pneumothorax, it showed giant cystic air filled structure pushing the mediastinal structure to contralateral side with loss of left diaphragmatic outline which raised suspicion of congenital cystic lung mass or congenital diaphragmatic hernia. Advanced imaging and high index of suspicion are crucial for accurate diagnosis and timely management, ultimately improving patient outcomes. Consideration of alternative diagnosis when our initial intervention with insertion of chest tube fail to provide symptom improvement in suspected pneumothorax should raise suspicion of congenital diaphragmatic hernia like in our case.

A delayed presentation of traumatic diaphragmatic hernia in a young male: a unusual case report and comprehensive review of literature.

Acquired diaphragmatic hernia is typically caused by blunt trauma to the abdomen. It can be challenging to diagnose in acute cases due to a wide range of symptoms. Delayed presentation of traumatic diaphragmatic hernia is uncommon and can lead to respiratory issues or bowel complications like incarceration, perforation, or strangulation. Computed tomography is the preferred diagnostic tool. For acute case, laparotomy is indicated traditionally; however, the choice of surgery is dependent upon the surgeon's expertise and availability of resources.

Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology.

PURPOSE: Congenital diaphragmatic hernia (CDH) and cleft lip and/or palate (CL/P) are inborn closure defects. Genetic factors in and outcomes for patients with both anomalies (CDH+CL/P) remain unclear. We aimed to investigate associated genetic aberrations, prevalence of, and outcomes for, CDH+CL/P. METHODS: Data from Congenital Diaphragmatic Hernia Study Group (CDHSG) registry were collected. CL/P prevalence in CDH patients was determined. Genetic abnormalities and additional malformations in CDH+CL/P were explored. Patient characteristics and outcomes were compared between CDH+CL/P and isolated CDH (CDH-) using Fisher's Exact Test for categorical, and t-test or Mann-Whitney U-test for continuous, data. p < 0.05 was considered statistically significant. RESULTS: Genetic anomalies in CDH+CL/P included trisomy 13, 8p23.1 deletion, and Wolf-Hirschhorn syndrome (4p16.3 deletion). CL/P prevalence in CDH was 0.7%. CDH+CL/P had lower survival rates than CDH-, a nearly fourfold risk of death within 7 days, were less supported with extracorporeal life support (ECLS), had higher non-repair rates, and survivors had longer length of hospital stay. CONCLUSION: Genetic anomalies, e.g. trisomy 13, 8p23.1 deletion, and Wolf-Hirschhorn syndrome, are seen in patients with the combination of CDH and orofacial clefts. CL/P in CDH patients is rare and associated with poorer outcomes compared to CDH-, influenced by goals of care decision-making.

Predictive Value of Esophageal Deviation Index for Clinical Outcomes of Patients With Left-Sided Congenital Diaphragmatic Hernia.

PURPOSE: This study aimed to evaluate the prognostic value of postnatal esophageal deviation index (EDI) measured within the first 24 h of life for predicting mortality and morbidity in neonates with left-sided congenital diaphragmatic hernia (L-CDH). METHOD: This retrospective study analyzed clinical data from 133 neonates with L-CDH admitted to Guangzhou Women and Children's Medical Center between January 2016 and January 2024. Patients were categorized into two groups based on outcomes: survivors (n = 108) and non-survivors (n = 27). Risk factors for mortality were identified using both univariate and multivariate analyses. A receiver operating characteristic (ROC) curve was utilized to evaluate the predictive value of EDI for mortality in L-CDH patients. Subsequently, patients were divided into two groups: those with an EDI> 16.1% and those with an EDI≤16.1%. The relationship between EDI and both mortality and morbidity was analyzed using Kaplan-Meier analysis, chi-square test, Fisher's exact test, and multivariate analysis. RESULTS: EDI (adjusted OR: 0.822, 95% CI 0.723-0.935; P = 0.003) was identified as the independent predictor of mortality through both univariate and multivariate logistic regression analysis. The ROC curve demonstrated that the area under the curve (AUC) for predicting the mortality was 0.854 (95%CI: 0.782-0.930) for EDI, with an optimal cut-off value of 16.125%. The cumulative mortality rate through Day 200 was higher in patients with an EDI>16.1% (P＜0.001). Among the 133 neonates with L-CDH, 24.8% had an EDI>16.1%. This was associated with significantly worse CDH characteristics, including a high incidence of intrathoracic stomach and a high occurrence of high-risk defect sizes (type C/D), (P＜0.001), as well as more severe pulmonary hypertension (P＜0.001). An EDI>16.1% was associated with higher mortality and a greater need for ECMO support compared to an EDI≤16.1% (P＜0.001). CONCLUSION: EDI within the first 24 h of life in patients with L-CDH is associated with increased mortality and the need for ECMO, particularly when EDI exceeds 16.1%. LEVEL OF EVIDENCE: III.

[Complicated right Bochdalek hernia]. / Hernia de Bochdalek derecha complicada.

The clinical case of a 53-year-old woman diagnosed with a right Bochdalek hernia complicated by intestinal obstruction is presented. This type of diaphragmatic hernia is rare, especially those located on the right side, but is the most common non-hiatal hernia. Her diagnosis focused on the computed tomography of the chest and abdomen and the repair was performed using a laparoscopic approach. A primary closure was carried out associated with the placement of polypropylene mesh. Her evolution was favorable, with no complications associated with the procedure.

Se presenta el caso clínico de una mujer de 53 años diagnosticada con una hernia de Bochdalek derecha complicada con oclusión intestinal. Este tipo de hernias diafragmáticas son raras, especialmente las localizadas en lado derecho, pero constituyen aquellas no hiatales más frecuentes. El diagnóstico se centró en la tomografía computarizada de tórax y abdomen, y la reparación se realizó mediante una malla de polipropileno. La evolución fue favorable, sin complicaciones asociadas al procedimiento.

Clinical Care Trajectory Assessment of Children With Congenital Diaphragmatic Hernia and Neurodevelopmental Impairment.

BACKGROUND: Interdisciplinary long-term health surveillance identifies opportunities to mitigate CDH-related multisystem morbidity, particularly in patients with neurodevelopmental impairment (NDI). However, no studies to date have assessed the impact of these morbidities on the patient/family. Our aim was to describe the clinical trajectory of patients with CDH and NDI (CDH-NDI), and to explore the lived experience and satisfaction of families with existing support resources. METHODS: A multi-phase explanatory study (REB 2023-8964) was conducted. Phase 1: Review of clinical data for CDH-NDI patients attending a longitudinal follow-up clinic; Phase 2: Satisfaction assessment of CDH-NDI families with existing hospital resources. Standard statistical analyses were performed for Phases 1 and 2, respectively. RESULTS: Of 91 patients included, 27 had NDI, stratified into mild (n = 2), moderate (n = 7), and severe (n = 18) cohorts. Ventilation (16 vs. 8; p < 0.001), ICU (34 vs. 18; p < 0.001) and hospital (41 vs. 22; p < 0.001) days were significantly longer in the severe cohort. The severe cohort required significantly more unscheduled visits, particularly in the first four years of life (p < 0.05). Despite high family satisfaction with existing resources, team communication during ICU-ward transfers could be improved. Parents also desired to share experiences with other CDH families. CONCLUSION: CDH children with NDI require increased support, particularly in the first four years of life. While clinic satisfaction is high, improvement of team communication and access to support resources remain high priorities for parents. LEVEL OF EVIDENCE: Level II (prospectively collected data, retrospective analysis).

Utility of the oxygenation index in management of congenital diaphragmatic hernia: a report from a Thai University Surgical Centre.

BACKGROUND: Oxygenation index (OI) is associated with severity of newborn pulmonary hypertension (PH) in congenital diaphragmatic hernia (CDH). Higher OI may indicate worst degree(s) of PH. OBJECTIVES: This study reports OI dynamic(s) over the first 72 h of life and its correlation with (1) perioperative morbidity and (2) CDH mortality. METHODS: Medical records of inborn CDH babies during 2002-2022 were examined. OI on Days (s) 1-3 and perioperative OI trends were recorded. Operation (primary vs patch repair) and survival rates (%) were studied. RESULTS: Fifty-five CDH newborns (54.5% male: 45.5% female)-mean birth GA 37.5 ± 2.7 wks. had a mean birth weight 2813 ± 684 g with prenatal diagnosis in 32.7% cases. 52/55 (94.5%) were intubated at birth and HFOV deployed in 29 (55.8%). Those requiring HFOV had higher OI on DOL1 (24.8 ± 17 vs 10.3 ± 11.5; p < 0.05), DOL 2 (26.3 ± 22.9 vs 6.7 ± 12.1; p < 0.05) and DOL 3 (21.9 ± 33.8 vs 5.5 ± 9.3; p = 0.04). Operation was undertaken in 36/55 (65.5%). Preoperative mortality group had significant higher OI on DOL 2 (42.1 ± 21.0 vs 14.9 ± 9.3; p = 0.04). CDH defects were-Type A N = 27 (75%), Type B N = 7 (19.4%) and Type C N = 2 (5.6%). Overall mortality was 40% (22/55). Statistically significant OI trends were recorded in non-survival vs. survival groups on DOL 1 (31.6 ± 16.8. vs 10.5 ± 9.0; p < 0.05, DOL 2 (38.1 ± 21.9 vs 6.3 ± 7.1; p < 0.05), and DOL 3 (38.8 ± 39.4; p = 0.012). CONCLUSIONS: OI dynamics are highly predictive for accurate monitoring of CDH cardiorespiratory physiology and crucially may guide ventilatory management as well as timing of surgery.

A novel approach for repair of right sided congenital diaphragmatic hernia and hepatopulmonary fusion.

Right sided congenital diaphragmatic hernia (CDH) associated with hepatopulmonary fusion (HPF) is a rare congenital anomaly in which the herniated liver is fused with lung parenchyma. We discuss the case of an infant with right-sided CDH and HPF found on index operation for repair of right-sided CDH. Due to the high incidence of vascular anomalies associated with HPF the decision was made to close the patient and get further imaging to characterize the HPF before returning to the operating room for definitive repair. We describe a novel and successful operative approach where the liver was left entirely fused to the lung and the liver was partially brought down from the chest and was plicated to the diaphragm form a seal between the parietal and pleural cavities to repair the CDH.

Diagnostic challenges in late-presentation congenital diaphragmatic hernia: A case study of a 10-month-old with respiratory symptoms.

Congenital diaphragmatic hernia (CDH) is a developmental disorder in which the diaphragm, the muscle that separates the chest from the abdomen, does not close during prenatal development, allowing abdominal organs to herniate into the chest cavity. It occurs mainly on the left side (80%-85% of cases). CDH is often identified during prenatal assessment. However, instances of late-presenting CDH beyond infancy are exceedingly uncommon, contributing to frequent misdiagnosis and delayed therapeutic intervention. We present a case of a 10-month-old female with an uneventful antenatal and perinatal history who presented with respiratory distress and multiple episodes of vomiting. Her vital signs were stable upon arrival, but she was sent to the PICU due to hypoactivity, reduced oral intake, and agitation. After an urgent CT scan, a herniation of the small and large bowel loops into the right hemithorax was discovered, along with a defect in the right hemidiaphragm. This resulted in a pleural effusion on the right side, a partially collapsed left lung, and a mediastinal shift to the left. The diaphragmatic hernia was corrected through a lateral thoracotomy at the sixth rib with multiple interrupted sutures, and a chest tube was then inserted into the pleural space above the diaphragm following a smooth reduction of the bowl. This case highlights the importance of early diagnosis, appropriate clinical investigation, and treatment. A good prognosis can be anticipated by promptly discovering and examining the condition.

Delayed presentation of congenital diaphragmatic hernia: A report of 2 cases.

Late presentation of congenital diaphragmatic hernia (CDH) presents usually after the neonatal period and often misdiagnosed for other respiratory pathologies. It is crucial to differentiate late presentation of CDH from other potential causes of respiratory distress and gastrointestinal symptoms. Herein, we present 2 cases of delayed presentation of congenital diaphragmatic hernia in infants. Initially, both cases were managed as respiratory conditions in outpatient settings, with no significant improvement. The correct diagnosis was eventually made through radiological evaluation at our tertiary centre, leading to successful surgical management. Delayed presentation of CDH beyond the neonatal period is rare, owing to the wide spectrum of clinical manifestations. Early diagnosis and surgical management are crucial to reduce morbidity and mortality, making a high index of suspicion essential for timely intervention.

Area of Focus in 3D Volumetry and Botulinum Toxin A Injection for Giant Diaphragmatic Hernia with Loss of Domain: A Case Report with Video Illustration.

Background: Chronic giant diaphragmatic hernia is a severe disease with challenging diagnosis and treatment. Given the risk of loss of domain, the use of botulinum toxin A is an option but has been minimally studied in diaphragmatic hernia surgery. Case Report: We present a case of a giant diaphragmatic hernia in a 66-years-old patient who showed a 12-year history of progressive chronic respiratory insufficiency. There were not notion of traumatic injuries. The CT-scan showed a giant diaphragmatic hernia with herniation of small bowel, right liver, omentum and transverse colon. Method: We assessed the risk of loss of domain using a 3D volumetry based on the Sabbagh score and decided to use Botox injection before laparoscopic reduction of the hernia due to the high risk of complications related to the loss of domain. A computed tomography was performed 24 months after surgery and showed no evidence of recurrence. The patient presented an excellent functional result with a normal physical activity. Conclusion: This report is among the first to highlight the utility of 3D reconstruction in assessing the risk associated with loss of domain and in preparing the abdominal wall with botulinum toxin A for diaphragmatic hernia repair.

Rare Right-Sided Posterolateral Diaphragmatic Hernia in an Adult Presenting as an Incarcerated Large Bowel Obstruction: A Case Report.

Introduction: A diaphragmatic hernia (DH) is a defect within a part of the diaphragm that allows intra-abdominal contents to enter the thoracic cavity. Diaphragmatic hernias can be congenital or acquired later in life. The most common congenital DH is the Bochdalek hernia (posterolateral hernia), but the most commonly acquired DH is due to traumatic injury. These hernias are rare in adults and are typically diagnosed incidentally. Surgical repair is the standard of care; however, data regarding the surgical approach is scarce. We report a case of a rare right posterolateral DH in an adult female patient who presented with acute abdominal pain. Case Presentation: A 69-year-old female presented with recurrent epigastric pain that had acutely worsened, nausea, vomiting, and food intolerance. A computed tomography (CT) scan demonstrated a right posterolateral DH containing the hepatic flexure of the colon. The patient was taken urgently to surgery due to concern for strangulation. Reduction of the hernia was attempted laparoscopically but was converted to an open procedure with a subcostal incision due to poor visualization. This approach revealed adequate exposure of the defect and subsequent reduction of the herniated abdominal contents. The defect was easily closed without tension or the use of mesh. The patient was discharged on postoperative day 3. Conclusion: Chronic DH can have severe life-threatening sequelae when left untreated. This case demonstrates the importance of thorough history-taking and raises awareness of missed diaphragmatic injuries in trauma situations. Since patients who present with a symptomatic DH often need urgent repair, it is important for surgeons working in the acute care setting to understand the surgical options available and when mesh placement may benefit the situation. Our case outlines a successful primary defect repair, without mesh, of a right-sided DH in which a minimally invasive technique was attempted but converted to laparotomy for patient safety.

Patterns and Outcomes of Epoprostenol Use in Infants with Congenital Diaphragmatic Hernia Requiring Extracorporeal Life Support.

OBJECTIVE: To describe our experience utilizing epoprostenol for pulmonary hypertension (PH) in infants with congenital diaphragmatic hernia (CDH) requiring extracorporeal life support (ECLS). STUDY DESIGN: We retrospectively reviewed infants diagnosed with CDH who required ECLS at our institution from 2013 to 2023. Data collected included demographics, disease characteristics, medication administration patterns, and hospital outcomes. We first compared infants who received intravenous epoprostenol and those who did not. Among infants who received epoprostenol, we compared survivors and nonsurvivors. χ² test/Fisher's exact and Mann-Whitney tests were used, with significance defined at P < .05. RESULTS: Fifty-seven infants were included; 40 (70.2%) received epoprostenol. Infants receiving epoprostenol had lower observed/expected total fetal lung volume (O/E TFLV) on magnetic resonance imaging (20 vs 26.2%, P = .042) as well as higher prenatal frequency of liver-up (90 vs 64.7%, P = .023) and "severe" classification (67.5 vs 35.3%, P = .007). Survival with and without epoprostenol was comparable (60% vs 64%, P = .23). Of those receiving epoprostenol, both survivors and nonsurvivors had similar prenatal indicators of disease severity. Most (80%) of hernia defects were classified as type C/D and 68% were repaired <72 hours after ECLS cannulation. The median age at initiation of epoprostenol was day of life 6 (IQR: 4, 7) in survivors and 8 (IQR: 7, 16) in nonsurvivors (P = .012). Survivors had shorter ECLS duration (11 vs 20 days, P = .049). Of nonsurvivors, refractory PH was the cause of death for 13 infants (81%). CONCLUSIONS: In infants with CDH requiring ECLS, addition of epoprostenol appears promising and earlier initiation may affect survival.

Prenatal Ultrasound Diagnosis of Congenital Diaphragmatic Hernia in a Fetus With Fryns "Anophthalmia-Plus" Syndrome: A Case Report.

Fryns syndrome is an extremely rare autosomal recessive disorder and is characterized by congenital diaphragmatic hernia (CDH), dysmorphic facial features, distal limb hypoplasia, pulmonary hypoplasia, and characteristic-associated anomalies that lead to a high mortality rate. We present a prenatally diagnosed new case of Fryns "anophthalmia-plus" syndrome (FAPS) in a 41-year-old pregnant woman. An ultrasonographic examination at 22 weeks of gestation demonstrated left CDH with mediastinal shift, hypoplastic thorax with presumptive pulmonary hypoplasia, craniofacial anomalies, left anophthalmia, and distal limb hypoplasia. A genetic analysis of the fetal karyotype was held, which was negative for any known chromosomal or single gene abnormalities. After genetic counseling about the risks associated with these ultrasonographic findings, the parents opted for pregnancy termination. Timely identification or suspicion of Fryns syndrome during the early stages of pregnancy could facilitate parental guidance and enable the development of suitable strategies for prenatal treatment and/or perinatal care.

Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants.

Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly often accompanied by other structural anomalies and/or neurobehavioral manifestations. Rare de novo protein-coding variants and copy-number variations contribute to CDH in the population. However, most individuals with CDH remain genetically undiagnosed. Here, we perform integrated de novo and common-variant analyses using 1,469 CDH individuals, including 1,064 child-parent trios and 6,133 ancestry-matched, unaffected controls for the genome-wide association study. We identify candidate CDH variants in 15 genes, including eight novel genes, through deleterious de novo variants. We further identify two genomic loci contributing to CDH risk through common variants with similar effect sizes among Europeans and Latinx. Both loci are in putative transcriptional regulatory regions of developmental patterning genes. Estimated heritability in common variants is ∼19%. Strikingly, there is no significant difference in estimated polygenic risk scores between isolated and complex CDH or between individuals harboring deleterious de novo variants and individuals without these variants. The data support a polygenic model as part of the CDH genetic architecture.

Paraesophageal Hernias with Perforation.

Acute gastric volvulus presents with the classic triad of severe epigastric pain, vomiting, and difficulty or inability to pass a nasogastric tube. It can be complicated by strangulation and perforation which are associated with high mortality rates. Quick diagnosis and attempt at decompression is paramount. Computer-aided tomography is an important diagnostic step, and findings such as gastric wall thickening, extraluminal gas, and mediastinal fluid should prompt urgent surgical intervention. Approaches can include minimally invasive or open operations and in general should include reduction of the hernia, resection of devitalized tissue, and in some cases esophageal exclusion with delayed reconstruction.

Optimizing Congenital Diaphragmatic Hernia Repair on ECMO: Evaluating the Risk of Bleeding.

BACKGROUND: Institutions lack consensus on the management of patients with congenital diaphragmatic hernia (CDH) who are repaired on extracorporeal membrane oxygenation (ECMO). Our study aimed to evaluate risk factors associated with bleeding complications in patients with CDH repaired on ECMO. METHODS: A single-institution retrospective review evaluated all patients with CDH who underwent on-ECMO repair between January 2005 and December 2023. A significant bleeding complication post-repair was defined as bleeding necessitating re-operation. The association between preoperative factors and bleeding complications was evaluated. RESULTS: Forty-six patients were included. Bleeding complications developed in 11/46 (24%) patients. Birthweight (2.5 vs. 3.2 kg, p = 0.02), platelet count <100/mm3 (64% vs. 29%, p = 0.04), elevated blood urea nitrogen (BUN; 24.5 vs. 17.5 mg/dL, p = 0.05), and older age at repair (8 vs. 5 days, p = 0.04) were associated with bleeding. In univariate analysis, patients with platelets under 100/mm3 were more likely to develop a bleeding complication (OR = 4.4, p = 0.04). Patients who experienced a significant bleeding event experienced increased ECMO days (12 vs. 7 days, p < 0.01), ventilator days (31 vs. 18 days, p < 0.05), and lower survival to discharge (36% vs. 74%, p = 0.03). CONCLUSION: Among CDH patients undergoing repair on ECMO, those with lower birth weight, platelet counts under 100/mm3, elevated BUN, and older age at repair had an increased risk of a significant bleeding complication, resulting in more ECMO and ventilator days and higher mortality. Patients undergoing on-ECMO repair should have platelet count transfused to greater than 100/mm3. Patients at high risk for bleeding may benefit from early repair on ECMO. LEVEL OF EVIDENCE: Level III.

Case Report: A "senior" with serpentine-like syndrome-treatment of combined brachyoesophagus, intrathoracic stomach and cervical rachischisis.

Serpentine-like syndrome, characterized by the combination of intrathoracic stomach, a notably short esophagus anomaly, splenic abnormalities, and cervical spine malformations, has been associated with a high mortality rate since its identification in 2008. This report presents the case of a remarkable patient who recently celebrated her fifth birthday, marking her as the oldest documented individual with this syndrome to date. Highlighting the significance of comprehensive evaluations for concurrent malformations, the report discusses potential treatment modalities and challenges inherent in managing patients with this intricate syndrome. A comprehensive review of previously published cases is provided, comparing surgical interventions, causes of death, and age at the time of demise. This report underscores the importance of ongoing research and collaborative efforts to optimize outcomes for individuals afflicted with serpentine-like syndrome.

Observed-to-expected lung-area-to-head-circumference ratio on ultrasound examination vs total fetal lung volume on magnetic resonance imaging in prediction of survival in fetuses with left-sided diaphragmatic hernia.

OBJECTIVE: To assess and compare the value of antenatally determined observed-to-expected (O/E) lung-area-to-head-circumference ratio (LHR) on ultrasound examination vs O/E total fetal lung volume (TFLV) on magnetic resonance imaging (MRI) examination to predict postnatal survival of fetuses with isolated, expectantly managed left-sided congenital diaphragmatic hernia (CDH). METHODS: This was a multicenter retrospective study including all consecutive fetuses with isolated CDH that were managed expectantly in Mannheim, Germany, and in five other European centers, that underwent at least one ultrasound examination for measurement of O/E-LHR and one MRI scan for measurement of O/E-TFLV during pregnancy. All MRI data were centralized, and lung volumes were measured by two experienced operators blinded to the pre- and postnatal data. Multiple logistic regression analyses were performed to examine the effect on survival at hospital discharge of various perinatal variables, including the center of management. In left-sided CDH with intrathoracic herniation of the liver, receiver-operating-characteristics (ROC) curves were constructed separately for cases from Mannheim and the other five European centers and were used to compare O/E-TFLV and O/E-LHR in the prediction of postnatal survival. RESULTS: From Mannheim, 309 patients were included with a median gestational age (GA) at ultrasound examination of 29.6 (range, 19.7-39.1) weeks and median GA at MRI examination of 31.1 (range, 18.0-39.9) weeks. From the other five European centers, 116 patients were included with a median GA at ultrasound examination of 26.7 (range, 20.6-37.6) weeks and median GA at MRI examination of 27.7 (range, 21.3-37.9) weeks. Regression analysis demonstrated that the survival rates at discharge were lower in left-sided CDH (odds ratio (OR), 0.349 (95% CI, 0.133-0.918), P = 0.033) and those with intrathoracic liver (OR, 0.297 (95% CI, 0.141-0.628), P = 0.001), and higher with increasing O/E-TFLV (OR, 1.123 (95% CI, 1.079-1.170), P < 0.001), advanced GA at birth (OR, 1.294 (95% CI, 1.055-1.588), P = 0.013) and when birth occurred in Mannheim (OR, 7.560 (95% CI, 3.368-16.967), P < 0.001). Given the difference in survival rate between Mannheim and the five other European centers, ROC curve comparisons between the two imaging modalities were presented separately. For cases of left-sided CDH with intrathoracic herniation of the liver, pairwise comparison showed no significant difference between the area under the ROC curves for the prediction of postnatal survival between O/E-TFLV and O/E-LHR in Mannheim (mean difference = 0.025, P = 0.610, standard error = 0.050), whereas there was a significant difference in the other European centers studied (mean difference = 0.056, P = 0.033, standard error = 0.056). CONCLUSIONS: In fetuses with left-sided CDH and intrathoracic herniation of the liver, the predictive value for postnatal survival of O/E-TFLV on MRI examination and O/E-LHR on ultrasound examination was similar in one center (Mannheim), but O/E-TFLV had better predictive value compared to O/E-LHR in the five other European centers. Hence, in these five European centers, MRI should be included in the diagnostic process for left-sided CDH. © 2024 International Society of Ultrasound in Obstetrics and Gynecology.