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Congenital lobar emphysema

Orpha number ORPHA1928
Synonym(s) Congenital lobar hyperinflation
Infantile lobar hyperinflation
Prevalence 1-9 / 100 000
Inheritance
  • Autosomal dominant
  • Sporadic
Age of onset Neonatal/infancy
ICD-10
  • Q33.8
OMIM
UMLS -
MeSH
  • C535735
MedDRA -
SNOMED CT
  • 47895001
  • 66987001

Summary

Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of lung. CLE is potentially lethal.

It is a rare disease with incidence being 1/20,000 to 1/30,000 births.

Most cases present in the neonatal period or in early infancy. Patients with less severe manifestations may present in early childhood or rarely in adulthood. Clinical picture can range from asymptomatic or mildly symptomatic to severe respiratory impairment requiring immediate intervention. Symptomatic patients present with respiratory distress, dyspnea, tachycardia, cyanosis, and failure to thrive. Left upper lobe is most commonly affected (41%) followed by right middle lobe (34%) and right upper lobe (21%). CLE can occur in association with cardiac malformations in 15 to 20% cases.

About 50% cases have no identifiable etiology; however an abnormality or absence of cartilaginous rings, intrinsic obstruction caused by redundant mucosa, extrinsic obstruction (vascular or bronchial) or hyperinflation alone might explain the CLE. Polyalveolar lobe has also been reported as the cause of CLE.

Chest X ray and CT scan are the key imaging modalities used for diagnosis. Chest X ray shows hyperlucent affected lobes with mediastinal shift and collapse of ipsilateral unaffected segments. CT scan provides details of affected lobes and vascular involvement. Echocardiography to detect concomitant heart disease can also be performed.

Respiratory distress and radiolucency in chest x rays can lead to a misdiagnosis of tension pneumothorax. Differential diagnoses include also congenital cystic adenomatous malformation of the lung (see this term), pneumonia, bronchiolitis and foreign body aspiration.

Prenatal diagnosis can be made with ultrasonography by identifying hyperechoic areas in fetal lung.

Lobectomy of affected lobes is the widely accepted management with satisfactory outcome. Asymptomatic or mildly symptomatic cases can be managed conservatively and follow up is necessary. Thoracoscopic resection has been attempted and seems to have better post operative outcomes.

Asymptomatic cases may regress spontaneously. Prompt diagnosis and surgical intervention provide good long term outcome in symptomatic cases.

Expert reviewer(s)

  • Pr Daniele CATANEO

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