Hrev_master Emergency Care Journal 2023; volume 19:11570 [Emergency Care Journal 2023; 19:11570] [page 81] Question Based on the X-Ray imaging and the clinical history, which is the correct diagnosis? A Kartagener syndrome B. Bochdaleck hernia C. Morgagni hernia D. Massive thymic hyperplasia Correspondence: Alessandra Di Nora, Department of Pediatrics, University of Catania, 95100 Catania, Italy. E-mail: alessandradinora@gmail.com Key words: diaphragmatic hernia; Bochdaleck hernia; respiratory dis- tress; neonatology. Contributions: FP, patient’s care, details collection; ADN, manuscript drafting; PP, critical revision of the manuscript. All authors approved the final version and stated the integrity of the whole work. Conflict of interest: the authors declare no potential conflict of interest, and all authors confirm accuracy. Availability of data and materials: all data underlying the findings are fully available upon reasonable request to Alessandra Di Nora, alessan- dradinora@gmail.com Ethics approval and consent to participate: our institution does not require ethical approval for reporting individual cases, providing the cases are appropriately anonymized. Informed consent: written informed consent was obtained from the patient's guardian for the anonymized information to be published in this article. Received: 6 July 2023. Accepted: 14 July 2023. Early access publication: 25 July 2023. This work is licensed under a Creative Commons Attribution 4.0 License (by-nc 4.0). ©Copyright: the Author(s), 2023 Licensee PAGEPress, Italy Emergency Care Journal 2023; 19:11570 doi:10.4081/ecj.2023.11570 Publisher's note: all claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organiza- tions, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its man- ufacturer is not guaranteed or endorsed by the publisher. Bowel sounds in the chest of a 7-day-old baby: what’s going on? Alessandra Di Nora, Francesco Pizzo, Piero Pavone Department of Clinical and Experimental Medicine, University of Catania; Postgraduate Training Program in Pediatrics, Catania, Italy A 7-day-old female neonate presented with feeding difficulties and respiratory distress. She was born at term by vaginal delivery, weighed 2625 gr, with Apgar scores 9 and 10 in the first and fifth minutes of her life. Her mother did make complete prenatal care, and she reported smoking 10 cigarettes a day during the preg- nancy. The baby was born well and evolved without respiratory distress, with good reactivity, a positive neonatal reflex, the emis- sion of meconium in the first 24 hours, and breastfeeding with valid suckling. The baby was discharged at home in good condi- tion. Three days later, she presented with feeding difficulties, and she was admitted to our institute. At admission, the heart rate was 180 bpm, the respiratory rate was 70/minute, and the oxy- gen saturation was 93% in room air. At the clinical examination, subcoastal retractions and inspiratory stridor with cyanosis were evident. A right-sided heart auscultation and bowel sounds in the chest were detected. We decided to perform an X-ray of the chest and abdomen. Non -co mmerc ial us e o nly Answer A diagnosis of Bochdaleck hernia (BH) was made, and the baby was immediately intubated to perform a quick decompression of the chest with abdominal straps and prevent pulmonary hyper- tension. Echocardiography was performed to establish the pres- ence and severity of pulmonary hypertension and shunting. In our case, the exam showed a mesocardiac heart, with the stomach and the spleen in the left chest and no shunting detectable. BH is a life- threatening condition. It is a congenital diaphragmatic hernia caused by a developmental defect of the diaphragm that allows abdominal viscera (intestines, spleen, stomach, kidney, and liver) to herniate into the chest.1 Because herniation occurs during a crit- ical period of lung development, clinical manifestations of BH result from the pathologic effects of the herniated viscera on lung development. With the rising severity of lung compression, there are corresponding decreases in bronchial and pulmonary arterial branching, resulting in increasing degrees of pulmonary hypopla- sia. As a result, it is very common to have misplaced heart or bowel sounds in the chest, as well as some clinical findings of splanchnic organs in the thorax.2 Although symptoms often occur early at birth, some cases can show a late presentation, making the diagno- sis very intriguing. In our case, the first evaluation was completely negative, and the first symptoms appeared on day 7. For this rea- son, the clinical examination after birth and in the following days constitutes a milestone in recognizing rare diseases with unusual presentations. Another important aspect is the maternal pregnancy history. Interestingly, some studies have reported an association between smoking and BH, possibly due to the observed lower lev- els of vitamin A measured in the cord blood of congenital diaphragmatic hernia infants exposed to cigarette smoking.3,4 It could reflect an alteration in the retinoic acid pathway, which has been identified as a primary mechanism in mouse models.4 This underlines the importance of a careful collection of anamnesis to better understand various conditions related to the newborn and the mother. Finally, this case showed the importance of a comprehen- sive clinical approach even when there is a negative prenatal diag- nosis. The screening ultrasound examinations are arguably lacking in sensitivity and prognostic value.5 Ultrasound is currently the gold standard diagnostic test for congenital diaphragmatic hernia.6 Routine prenatal ultrasound identifies less than two-thirds of her- nia pregnancies, such as displaced bowel loops, stomach or abnor- mal cardiac axis, mediastinal shift, and polyhydramnios.6 In addi- tion, in some cases, herniation of abdominal viscera into the thorax takes place presumably just at delivery through a small diaphrag- matic defect; thus, prenatal diagnosis can result negative.7 Therefore, the birth-first evaluation can be negative, as it was in our case. Typical signs of displaced organs in the chest appeared at further investigations, pointing out the need for a deeply complete evaluation in the following days. This underlines the neonatolo- gist's important role in identifying and treating potentially life- threatening disorders. In our case, the best treatment for BH is sur- gical repair to prevent pulmonary hypertension, which remains the major cause of mortality. Other treatments include isotonic fluid support, inotropic agents, and inhaled nitric oxide.8 The timing of surgery is dependent on the cardiorespiratory status of the patient. The mortality and morbidity of BH are related to the severity of lung hypoplasia and pulmonary hypertension. Outcome studies have reported survivance rates of 80 percent at tertiary centers. Survivors are at risk for respiratory infection, gastroesophageal reflux, failure to thrive, recurrence, neurodevelopmental delay, and musculoskeletal deformities.9 References 1. Raucci U, Boni A, Folign S, et al. Late congenital diaphrag- matic hernia: is a significant challenge? A case series and review from literature. Minerva pediatrics 2021; https://doi.org/10.23736/S2724-5276.21.06329-1 Advance online. 2. Keijzer R, Puri P. Congenital diaphragmatic hernia. Seminars Pediat Surg 2010;19:180-5. 3) Zhang J, Savitz DA, Schwingl PJ, et al. A case-control study of paternal smoking and birth defects. Int J Epidemiol 1992;21:273-8. 4. Yilmaz G, Isik Agras P, Hizli S, et al. The effect of passive smoking and breast feeding on serum antioxidant vitamin (A, C, E) levels in infants. Acta Paediatr 2009;98:531-6. 5. Kirby E, Keijzer R. Congenital diaphragmatic hernia: current management strategies from antenatal diagnosis to long-term follow-up. PedSurg Int 2020;36:415-29. 6. Esposito C, Settimi A, Centonze A, et al. Bochdaleck diaphrag- matic hernia, complicated by an antenatal gastric perforation, presenting as a pneumothorax and a perforative peritonitis. Ped Surg Int 2008;24:365-9. 7. Chao P-H, Huang C-B, Liu CA, et al. Congenital diaphragmat- ic hernia in the neonatal period: review of 21 years’ experi- ence. Pediatr Neonatol 2010;51:97-102. 8. Al-Jazaeri A. Simplified technique for minimally invasive repair of congenital diaphragmatic hernia using hollow-needle snare and transthoracic traction stitches. Journal Ped Surg 2012;47:258-63. 9. Schimpl G, Fotter R, Sauer H. Congenital diaphragmatic her- nia presenting after the newborn period. Eur J Ped 1993;152:765-8. Images in Emergency [page 82] [Emergency Care Journal 2023; 19:11570] Non -co mmerc ial us e o nly