Can congenital lobar emphysema (CLE) occur in a 6-year-old female?

Can Congenital Lobar Emphysema Occur in a 6-Year-Old Female?

Yes, congenital lobar emphysema (CLE) can present in a 6-year-old female, though this represents an atypical late presentation of a condition that usually manifests in infancy.

Typical Age of Presentation

CLE predominantly presents during the neonatal period and early infancy, with the majority of cases diagnosed and managed within the first few months of life 1, 2, 3. In one series, 57% of children were symptomatic at birth, with most presenting before 2.5 years of age 3. However, the literature documents cases presenting as late as 12 months 2, and the condition can remain undiagnosed in mildly symptomatic or asymptomatic children who are managed conservatively 4.

Why Late Presentation Occurs

• Mild or intermittent symptoms: Children with less severe lobar hyperinflation may have minimal respiratory symptoms that are mistaken for recurrent respiratory infections or asthma 3, 5
• Conservative management: With increased use of prenatal and postnatal imaging, asymptomatic and mildly symptomatic children are increasingly managed without surgery, allowing the condition to persist into later childhood 4
• Misdiagnosis: CLE is frequently confused with pneumonia, pneumothorax, or asthma, leading to delayed diagnosis 2, 5

Clinical Presentation in Older Children

A 6-year-old with previously undiagnosed CLE would most likely present with:

• Recurrent respiratory tract infections that fail to fully resolve 3
• Chronic cough and wheezing that may be misdiagnosed as asthma 6
• Exercise intolerance or dyspnea with exertion
• Persistent radiological abnormalities despite symptom improvement 3

Gender Considerations

Importantly, one series found CLE was actually more common in females, contradicting the traditional male predominance reported in older literature 1. This 1992 study specifically noted female predominance in their cohort, making a 6-year-old female presentation entirely consistent with documented cases.

Diagnostic Approach

• Chest radiograph will show hyperaeration of the affected lobe with mediastinal shift 2, 3
• CT scan confirms emphysema in the affected lobe and is essential for diagnosis 2, 3
• Pulmonary perfusion scan demonstrates loss of perfusion in the affected lobe in most cases 2, 3
• Bronchoscopy may identify bronchial stenosis as the underlying cause 1

Critical Pitfall to Avoid

Do not mistake CLE for pneumothorax and insert a chest tube, as this occurred in three patients in one series and represents a dangerous misdiagnosis 2. The hyperinflated lobe can appear similar to pneumothorax on plain radiographs, but CT imaging will clarify the diagnosis.

Management at This Age

For a 6-year-old with newly diagnosed CLE:

• If severely symptomatic (progressive respiratory distress, recurrent infections requiring hospitalization): surgical lobectomy is indicated 3, 5
• If mildly symptomatic with normal bronchoscopy: conservative management with close follow-up is reasonable, though radiological abnormalities will persist 3, 4
• If asymptomatic: observation is appropriate, as spontaneous improvement can occur even in symptomatic children 4

The favorable outcome of both asymptomatic and mildly symptomatic children in recent series suggests that nonoperative management should be considered for older children with late diagnosis, provided they can be closely monitored 4.