A Newborn's Complex Journey: From Respiratory Arrest to a Rare Lung Condition

Table of Contents

• Case Presentation: A Difficult Birth
• The Challenging Hospital Course
• The Diagnostic Puzzle: Considering All Possibilities
• Reaching the Final Diagnosis
• Long-Term Management and Follow-up
• What This Means for Patients and Families
• Source Information

Case Presentation: A Difficult Birth

A newborn baby girl was immediately admitted to the neonatal intensive care unit (NICU) at Massachusetts General Hospital after experiencing cardiorespiratory arrest during delivery. Her mother was a 19-year-old first-time mother whose pregnancy had been complicated by hepatitis C infection, treated Chlamydia trachomatis infection, and gestational hypertension (high blood pressure during pregnancy).

Prenatal ultrasounds between 20 weeks and 39 weeks of gestation had shown dilatation (enlargement) of the right urinary tract, but the fetal heart appeared normal. At exactly 40 weeks gestation, the mother's water broke spontaneously, and she was admitted to the hospital. Concerning fetal heart tracings led doctors to perform a cesarean section after 22 hours and 39 minutes of labor.

During delivery, doctors noted meconium-stained amniotic fluid (the baby's first stool had passed into the womb). The baby was delivered in breech position (feet first) six minutes after the uterine incision. Her birth measurements were:

• Weight: 3575 grams (62nd percentile)
• Length: 50 cm (42nd percentile)
• Head circumference: 35.5 cm (72nd percentile)

At birth, the newborn showed no respiratory effort and had limp muscle tone. Medical teams immediately began life-saving measures including intubation (inserting a breathing tube), cardiopulmonary resuscitation, and administration of epinephrine and saline fluids through an umbilical venous catheter. After 16 minutes of resuscitation, spontaneous circulation returned. Her Apgar scores (a quick assessment of newborn health) were critically low at 1, 0, 0, 1, and 3 at 1, 5, 10, 15, and 20 minutes respectively.

The Challenging Hospital Course

Upon arrival at the NICU, the baby's temperature was 34.9°C, heart rate was 141 beats per minute, and blood pressure was 84/59 mm Hg. She required mechanical ventilation with 97% oxygen saturation. Doctors initiated therapeutic hypothermia (cooling treatment) to protect her brain after the oxygen deprivation during resuscitation.

Initial chest X-rays revealed a small-to-moderate pneumothorax (collapsed lung) on the right side and possible air trapping or early pneumothorax on the left side. Doctors performed needle thoracentesis (draining air with a needle) on the right side, removing 20 ml of air. They started empirical antibiotic treatment with ampicillin and ceftazidime.

On day 2, her breathing difficulties increased, and repeat X-rays showed the right pneumothorax had resolved but a large left pneumothorax had developed with extensive collapse of the left lung. Doctors drained 27 ml of air from the left side, which improved lung inflation.

Pathological examination of the placenta revealed meconium-stained membranes and evidence of acute chorioamnionitis with fetal vascular involvement (infection of the placental membranes).

Over the next several days, the baby developed persistent pulmonary hypertension of the newborn (PPHN), a serious condition where blood bypasses the lungs. The difference between preductal and postductal oxygen saturation ranged from 5 to 15 percentage points, indicating significant blood shunting. Treatment required increasing oxygen to 100% and adding inhaled nitric oxide to help relax lung blood vessels.

Additional complications included:

• Hypotension (low blood pressure) requiring fluid resuscitation and multiple medications (dopamine, milrinone, epinephrine)
• Echocardiogram showing patent ductus arteriosus (2.9 mm), ventricular septal defect (2.0 mm), and patent foramen ovale (2.5 mm)
• Tricuspid regurgitation with peak gradient of 58 mm Hg, suggesting elevated right heart pressures
• Severe dilatation of the right urinary tract
• Seizure activity lasting 25 minutes, treated with phenobarbital

On day 16, the baby developed a fever of 38.8°C, and chest X-ray showed a new opacity in the left lower lobe with a small pleural effusion. Despite multiple antibiotic regimens, the lung opacity persisted through day 21.

The Diagnostic Puzzle: Considering All Possibilities

The medical team systematically considered various conditions that could explain the persistent lung opacity in the same location where initial lucency had been observed. They ruled out several common conditions:

Meconium Aspiration Syndrome: Although meconium was present at delivery and approximately 5% of infants with meconium-stained fluid develop this syndrome (with 9.6% of those developing pneumothorax), the radiologic abnormalities in this condition are typically transient, not persistent.

Congenital Diaphragmatic Hernia: This occurs in approximately 2.4 cases per 10,000 live births, with 80% involving the left side. However, serial chest X-rays over three weeks showed no evidence of bowel loops in the chest or mediastinal shift that would suggest this diagnosis.

The team then focused on congenital lung malformations, considering that the persistent changes in the same location suggested a pre-existing structural abnormality that became infected. They evaluated several specific possibilities:

Multiple Bronchogenic Cysts: These typically form in the mediastinum and only 5% occur in lung tissue, usually in lower lobes. However, these are usually detected prenatally and appear as large cysts on imaging.

Congenital Lobar Overinflation: This causes overexpansion of a lung lobe, most commonly the left upper lobe, not the lower lobe as seen in this patient. The degree of overexpansion was also less severe than typically seen with this condition.

Congenital Pulmonary Airway Malformation (CPAM): This hamartomatous proliferation occurs in 1 in 7500 live births. The team considered all five types:

• Type 0 (Acinar dysplasia): Fatal within first day, ruled out
• Type 1: Most common type (over two-thirds of cases) with large cysts up to 10 cm, usually detected prenatally
• Type 2: Second most common (10-15% of cases) with multiple cystic spaces up to 2.5 cm
• Type 3: Solid, adenomatoid mass with small cysts, usually detected prenatally
• Type 4: Cysts of various sizes that can resemble overexpanded lobe, associated with pneumothorax

Bronchopulmonary Sequestration (BPS): This congenital malformation involves lung tissue not connected to the normal airway tree, with blood supply typically coming directly from the aorta. The two types are:

• Extralobar: Encapsulated by its own pleura, usually between lower lobe and diaphragm
• Intralobar: Integrated into normal lung tissue (more common), usually in lower lobe (98% of cases), particularly in medial and posterior segments of left lower lobe

The medical team determined that intralobar bronchopulmonary sequestration was the most likely diagnosis, possibly as a hybrid lesion with CPAM. They recommended chest ultrasonography to look for an aberrant blood supply from the aorta to confirm this diagnosis.

Reaching the Final Diagnosis

Chest ultrasonography with color Doppler performed on day 21 revealed a predominantly echogenic mass in the left lower lobe with a suspected arterial supply from the abdominal aorta. Confirmatory CT angiography on day 23 showed a heterogeneous mass-like area of consolidation in the lingula and left lower lobe with a feeding artery arising from the abdominal aorta.

This confirmed the diagnosis of a bronchopulmonary malformation, specifically intralobar bronchopulmonary sequestration. The abnormal lung tissue was receiving its blood supply directly from the aorta rather than from the pulmonary artery, which explained the persistent opacity and the patient's complex clinical course.

Long-Term Management and Follow-up

The patient was evaluated by pediatric surgery, but definitive surgical management of the congenital bronchopulmonary malformation was deferred to the outpatient setting. Given her multiple congenital anomalies, she underwent genetic evaluation including:

• Chromosomal microarray: No abnormalities detected
• DICER1 mutation testing: Negative (important because this mutation is associated with 40% of pleuropulmonary blastoma cases and confers cancer risk)

Her fever eventually resolved, and she was gradually weaned from ventilatory support and sedation. She began feeding orally and continued to receive care from a multidisciplinary team including pulmonary, surgery, nephrology, and urology specialists.

Follow-up CT angiography on day 149 showed that the previous area of consolidation had been replaced by hyperlucency, suggesting cystic changes and air trapping. The aberrant arterial supply from the abdominal aorta remained present but was less conspicuous. Imaging also showed the known right kidney dilatation, now status post pyeloplasty (surgical repair).

What This Means for Patients and Families

This case illustrates several important clinical points for families facing complex neonatal conditions:

Persistence of Symptoms: When lung abnormalities persist despite appropriate treatment, congenital malformations should be considered. The same anatomical location showing different abnormalities over time (lucency followed by opacity) particularly suggests an underlying structural issue.

Comprehensive Evaluation: Newborns with multiple congenital anomalies benefit from thorough evaluation by multiple specialists. This patient required care from neonatology, cardiology, neurology, nephrology, surgery, and genetics teams.

Genetic Considerations: While most bronchopulmonary malformations occur sporadically, some (particularly CPAM type 4) can be associated with genetic mutations like DICER1 that confer cancer risk. Appropriate genetic counseling and testing is important.

Timing of Intervention: Surgical management of bronchopulmonary sequestration is typically elective rather than emergent. The timing depends on the patient's clinical status, size of the lesion, and presence of complications.

Long-Term Follow-up: Patients with congenital lung malformations require ongoing monitoring for potential complications including recurrent infections, bleeding, and very rarely, malignant transformation.

This case demonstrates how advanced imaging techniques like CT angiography can precisely identify abnormal blood vessel anatomy, allowing for accurate diagnosis and appropriate treatment planning for complex congenital conditions.

Source Information

Original Article Title: Case 35-2024: A Newborn with Hypoxemia and a Lung Opacity

Authors: T. Bernard Kinane, M.D., Evan J. Zucker, M.D., Katherine A. Sparger, M.D., Cassandra M. Kelleher, M.D., and Angela R. Shih, M.D.

Publication: The New England Journal of Medicine, November 14, 2024;391:1838-46

DOI: 10.1056/NEJMcpc2402487

This patient-friendly article is based on peer-reviewed research from Massachusetts General Hospital case records.