A Term Boy With Cyanotic Episodes, Respiratory Failure, and Bilateral Emphysema

A term, appropriate-for-gestational-age male infant, born via uneventful vaginal delivery to a healthy primigravida mother, presented at 25 days of life with recurrent episodes of cyanosis, predominantly triggered by crying. The first episode occurred during the second week of life, characterized by sudden bluish discoloration of the body lasting 30 to 60 seconds followed by spontaneous recovery. The baby was exclusively breastfed, demonstrated adequate weight gain, and remained alert and active between events. However, he continued to have 2 to 3 such episodes daily, each resolving within a few seconds after feeding and not associated with loss of consciousness, stridor, or postevent lethargy.Initial evaluation at a local hospital revealed a negative sepsis screen and normal brain MRI. On referral to our center, the infant appeared well between episodes, with no dysmorphic features or overt anomalies. Oxygen therapy was initiated in view of the cyanotic spells. A desaturation episode (peripheral capillary oxygen saturation 80%) was observed on day 1 of admission during crying, accompanied by increased work of breathing. Examination showed decreased bilateral air entry that improved with positioning and oxygen. Chest radiograph was unremarkable. Echocardiography showed normal cardiac anatomy. Upper airway evaluation with direct laryngoscopy ruled out structural anomalies such as laryngeal web, subglottic stenosis, or vocal cord pathologic findings.In a term neonate presenting with crying-induced cyanosis and episodic respiratory distress, possible differential diagnoses include1: Congenital heart disease, especially those with right-to-left shunting, such as Tetralogy of FallotUpper airway anomalies, including laryngomalacia, vocal cord paralysis, and choanal atresiaTracheomalacia or bronchomalacia, which can result in dynamic airway collapse during increased intrathoracic pressureVascular rings or slings, such as double aortic arch or aberrant subclavian artery, leading to extrinsic airway compressionMediastinal masses, including duplication cysts, teratomas, or bronchogenic cystsCongenital pulmonary airway malformations, which can compromise ventilation depending on size and locationIn the present case, normal echocardiography and ears, nose, throat (ENT) evaluation helped rule out cardiac and upper airway causes. The recurrent nature of cyanosis during crying, unremarkable chest radiograph, and normal sepsis screen warranted further evaluation with cross-sectional imaging.In view of persistent unexplained cyanosis and unremarkable initial investigations, a contrast-enhanced computed tomography (CT) of the thorax with angiography was performed. It revealed a thin-walled fluid-density lesion measuring 16 × 15.5 × 25 mm in the right posterior mediastinum, compressing the trachea and both main bronchi, with anterior displacement and airway narrowing (Figure 1A, 1B). This was later confirmed to be a bronchogenic cyst on histopathology lined by respiratory epithelium.On day 2 of admission, the infant experienced a more severe cyanotic episode with bradycardia, requiring bag-and-mask ventilation, mechanical ventilation, and sedation. Over the next 2 days, he developed worsening respiratory acidosis (Paco2 > 100 mm Hg), a left-sided pneumothorax requiring drainage, and persistent desaturation. High-frequency oscillatory ventilation failed to maintain adequate gas exchange. Chest radiographs revealed bilateral hyperinflation, suggesting progressive air trapping (Figure 2A).In view of the known posterior mediastinal cyst compressing the trachea and main bronchi, along with radiologic evidence of a ball-valve mechanism causing dynamic obstruction and severe hypercapnia, we postulated that bypassing the compressed segment of the airway could restore effective ventilation. Therefore, selective right mainstem bronchial intubation was attempted under direct laryngoscopy. This maneuver allowed ventilation of the unobstructed distal airway, leading to immediate improvement in gas exchange and oxygenation. It also provided critical stabilization, allowing the infant to undergo urgent surgical excision of the lesion via posterolateral thoracotomy. A well-encapsulated cyst abutting the trachea and right main bronchus was resected near-totally, with mucosal cauterization of a small remnant (Figure 2B). Postoperatively, the infant recovered well, with resolution of respiratory symptoms and no recurrence at 3-month follow-up.Bronchogenic cysts are congenital anomalies arising from abnormal budding of the embryonic foregut.2 They may remain asymptomatic or present with life-threatening airway obstruction depending on their size and location.3 When situated near the carina or central airways, even small cysts can exert significant extrinsic pressure, leading to dynamic obstruction and episodic respiratory distress.The classical “ball-valve” mechanism—in which air enters the lungs during inspiration but is trapped during expiration—can result in progressive air trapping and hyperinflation, as seen in our patient. Bronchogenic cysts have been described as causing both unilateral and bilateral pulmonary emphysema in neonates due to this mechanism. Management of symptomatic bronchogenic cysts involves surgical excision, which can be performed through open or thoracoscopic approaches.4In our case, preoperative stabilization was a challenge due to worsening respiratory acidosis and high airway pressures. Selective mainstem bronchial intubation was employed as a temporizing strategy to bypass the obstructed proximal airway and ventilate the lungs effectively. Although typically reserved for massive unilateral lung pathology, selective intubation has been successfully reported in neonates to overcome critical airway compromise.5This case underscores the diagnostic challenges and critical need for early cross-sectional imaging in neonates with unexplained cyanosis. It also highlights selective bronchial intubation as a viable bridging strategy in cases of central airway compression.Crying-induced cyanosis in neonates should prompt evaluation for dynamic airway obstruction.Bronchogenic cysts, though rare, can cause critical airway compression and mimic other causes of respiratory distress.Normal chest x-ray or echo does not rule out mediastinal mass; CT of the thorax with angiography is essential when airway compromise is suspected.Selective lung ventilation can be a lifesaving temporizing measure in severe airway obstruction until definitive surgery is performed.A multidisciplinary approach involving neonatology, radiology, ENT, and pediatric surgery is crucial for optimal outcomes.