While chronic lung infections and infertility are overlapping symptoms for CF and Primary Ciliary Dyskinesia, the history of neonatal respiratory syndrome, ear infections and lower lobe bronchiectasis are most consistent with PCD
In up to 50% of people with PCD, you can get complete reversal of thoracic and abdominal organs. In this film you can see the heart in the right hemithorax, the gastric bubble on the right with the liver on the left resulting in elevation of the left hemidiaphragm
In patients with clinical symptoms and two decreased levels of nasal nitric oxide these findings suggest a PCD diagnosis but evaluation of the cilia structure and function as well as genetic testing are other diagnostic evaluations to confirm a diagnosis of PCD
Primary ciliary dyskinesia is a autosomal recessive disorder that results in motile ciliary dysfunction and clinical manifestations can vary depending on which organs are involved
Time for another #RadiologyRounds!! This week we’re looking at the coronal CT scan views, which can be extremely helpful and are often under-utilized. Follow us on Twitter to work through Radiology Rounds cases as they come out.
Our patient had an elevated VEGF-D level, a renal angiomyolipoma identified on CT abdomen, and imaging with diffuse cystic lung disease confirming her diagnosis of LAM. Make sure to check out the ICUOnePager made by Dr. Nick Mark.