Cystic Lung Diseases: Hypersensitivity Pneumonia

 

Date: February 4, 2021

Presenter: Nagehan Emiralioglu, MD, Assoc. Prof.

Hacettepe University Medical Faculty, Dept. Of Pediatric Pulmonology, Ankara Turkey

Radiologic Discussant: Nursun Ozcan, MD, Assoc. Prof.

Hacettepe University Medical Faculty, Dept. Of Radiology, Ankara Turkey

Clinical Discussant: Hasan Yuksel, MD, Prof.

Celal Bayar University Medical Faculty, Dept. Of Pediatric Pulmonology, Manisa, Turkey

 

 

Cystic lung diseases are within the rare lung disease group of childhood interstitial lung diseases. Here we will present two patients mimicking hypersensitivity pneumonia with similar clinical characteristics.

This case is an eight years old female patient was admitted to our hospital with chronic cough, dyspnea and failure to thrive. In her medical history second degree consanguinity was positive. Physical examination detected growth retardation, pectus excavatum, clubbing. Respiratory sounds were normal. Chest radiology showed interstitial appearance with ground glass opacification, chest CT showed bilaterally cystic changes and diffuse ground glass opacity in the lung parenchyma. Lung biopsy was performed and she has been diagnosed with hypersensitivity pneumonia. Oral methyl prednisolone treatment and hydroxychloroquine were started. However she had no response to treatment. Hydroxychloroquine was stopped and she is still using steroid treatment, it is now being tapered due to non response. She has hypoalbuminemia and liver function test elevation. She is now 13 years old and needs continuous oxygen. Whole exam sequencing was performed and new mutation related with FARS B mutation was detected.

Here we wanted to point out the differential diagnosis of hypersensitivity pneumonia with systematic clinical findings. Genetic evaluation should be keep in mind whether the patient has no response to treatments. FARS mutation has been reported recently with similar clinical findings, here we wanted to point out these two patients’ further clinical follow-up to deal with their respiratory problems. There is also no proven treatment for this mutation.