Congenital Lobar Emphysema is a rare congenital lung defect in which air comes into the lungs but cannot be expelled easily. This results in a balloon effect; the effected lobe expands until even the heart is moved aside. It can be life threatening or so mild that it goes undiagnosed completely. Treatment in severe cases requires a lobectomy, in which the effected lung lobe is removed.
Estimates are that CLE occurs in anywhere from 1 in 20,000 to 1 in 40,000 people, with it being more common among males, and these statistics vary from website to website. Medical Dictionary says that half of all cases are diagnosed within the first 4 weeks of life. Often just hours after a baby is born, respiratory issues becomes apparent and the diagnosis is made. Three fourths of the time, the diagnosis is made by 6 months of age.
Diagnosis is made when the child is showing respiratory distress and x-rays or CT scans show an enlarged lobe. On this website for med students, you can see normal chest x-rays and CLE chest x-rays. Notice that the CLE images shown are "usually a surgical emergency." These x-rays are very similar to what my son's x-rays looked like, but I would imagine that a more minor case in which a lobectomy isn't required might look quite different. Since CLE is pretty rare, many doctors haven't heard of it. In my son's case, the ER doctor made the diagnosis using x-rays, CT scans, and WebMD.
The cause of CLE is often unknown. There is a genetic connection, and CLE can be caused by autosomal dominant inheritance. While that is very rare, it does occasionally happen that both a parent and child have CLE. The majority of cases are spontaneous and not inherited. Prognosis for the patient with CLE can be very good, even in cases requiring a lobectomy.
My son also had CLE but it took us 11 months to get diagnosed. His family doctor insisted he had asthma and kept prescribing Albuterol which before his surgery made him stop breathing completely. Thank you for this tid-bit of information because I have been curious of the numbers... Hope all is well with your son
ReplyDeleteI have a son, who we were told was the first diagnosed as an infant. He would not want his story on the net, he had a very slim chance to live a normal life but he is quite normal after the lobectomy. I was told it was something that occurred during the time the lungs were forming in the womb.
ReplyDeleteI am 22 weeks pregnant and the doctor told us after an MRI that our baby has either a CPAM lesion or a CLE. Either way we're very scared. Our first baby had a congenital heart defect and now this baby has a congenital lung issue, so we are just feeling really sad and alone bc most of our friends have all normal babies and we can't seem to have one normal healthy baby. I'm glad to see all these babies doing so well, though, it gives me hope!
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