Hidden in Plain Sight: An Unusual Case of Chronic Cough and Dyspnea in an Adolescent Boy

A healthy 12-year-old adolescent boy came with complaints of dry cough and progressive dyspnoea for the past 2 years, exaggerated with exposure to dust, cold food, and the winter season. There were similar such complaints since 7 months of age, responding well with oral and nebulized bronchodilators. However, in the past 2 years, the response was only partial. There was no fever, palpitations, oliguria, weight loss, or other systemic symptoms. On presentation, he was tachypneic (RR = 32/mint). There was no pallor, clubbing, or hypoxemia. Chest examination revealed mild retractions, decreased chest expansion and air entry on the right side with the tracheal shift to the right side, and bilateral polyphonic expiratory wheeze. Based on the above clinical profile, differential diagnoses considered were asthma with allergic bronchopulmonary aspergillosis (ABPA), congenital malformations, forgotten foreign body, or intraluminal tumors. Chest radiograph showed mediastinal shift, right side pericardiac haziness, and circumferential round opacity in the right lower zone, obscuring the hemidiaphragmatic outline (Figure 1A). Spirometry showed a mixed obstructive-restrictive pattern with bronchodilator reversibility. The hemogram was unremarkable, with a normal absolute eosinophil count (210 μL). Fractional exhaled Nitric oxide (37 ppb) and total IgE (332.1 IU/mL) were elevated. However, aspergillus-specific IgE, IgG, and skin prick test for A. fumigatus were negative. In flexible bronchoscopy, right upper lobe bronchus was not visualized (Figure 1B), and the lavage was negative for tuberculosis, bacterial, and fungal infections. Echocardiography demonstrated the estimated pulmonary artery systolic pressure (PASP) of 52 mmHg, tricuspid regurgitation velocity of 3.2 m/sec, suggesting presence of moderate pulmonary artery hypertension (PAH). Chest tomography (CT) revealed the presence of right lung hypoplasia, pulmonary artery dilatation, Scimitar vein (SV) (draining the right upper and middle lobes) to the suprahepatic inferior vena cava (IVC), right diaphragmatic hernia (3.6 cm diameter) with liver herniation, horseshoe lung and fused 9th and 10th ribs (Figures 2 and 3). A final diagnosis of Scimitar syndrome with Asthma was confirmed. The child was started on maintenance and reliever therapy (MART). He is also scheduled for SV correction and diaphragmatic hernia repair in the same procedure, as the SV is located near the diaphragmatic defect. Scimitar syndrome (SS) is a rare complex congenital anomaly with an estimated incidence of 1–3/100,000 live births [1]. It includes dextrocardia, anomalous venous drainage of part or entire right lung into the IVC, giving the scimitar (Turkish sword) appearance on the radiograph, right lung hypoplasia, and a variable systemic arterial blood supply to the right lung [2]. The pathogenesis is still unknown, attributed currently to right/left signalling disturbances [1]. Symptoms can manifest during infancy (infantile form) or beyond (childhood/adult form). The infantile form is often associated with PAH (30%) and multiple congenital heart malformations and carries a worse prognosis [3]. The adult form is often asymptomatic, with PAH being infrequent. Horseshoe lung (15%), diaphragmatic defect (7%), and fused ribs (with only one reported case) have been documented less frequently in SS [4, 5], as seen in our case. This adolescent had PAH at the presentation. Asthma control was a confounding issue in diagnosis and therapy, and further evaluation revealed unexpected findings. The surgical repair of SS involves rerouting the venous drainage into the left atrium via a tunnel (baffling technique) or reimplanting into the left atrium [3]. In conclusion, children with uncontrolled asthma should be evaluated for additional or alternative diagnoses. High vigilance is needed, as the classical Turkish sword appearance in chest x-ray may be obscured by co-existing anomalies, such as diaphragmatic hernia, liver herniation, vertebral anomaly, or rib anomaly, as in our case. Kalyana Prabhakaran: conceptualization, writing – original draft. Samireddi B. V. Meghana: conceptualization, writing – original draft. Taruna Yadav: investigation, validation, supervision. Prawin Kumar: writing – review and editing, supervision. Jagdish P. Goyal: writing – review and editing, data curation, supervision. The authors have nothing to report. As per AIIMS, Jodhpur policy, ethical approval is not required for case reports/images. Informed consent was obtained from the parents, and they permitted to publish clinical images. The authors declare no conflicts of interest. Data sharing does not apply to this article as no new data were created or analyzed in this study.