Doctors Use Fluid Collected from Infant’s Lungs to Confirm Perinatal Lethal Gaucher Disease

Doctors Use Fluid Collected from Infant’s Lungs to Confirm Perinatal Lethal Gaucher Disease

Japanese researchers analyzed brochoalveolar lavage fluid (BALF) collected from the lungs to confirm a diagnosis of perinatal lethal Gaucher disease (PLGD) in an infant who was barely two months old — leading them to conclude that BALF may be a useful tool for early diagnosis.

Their report, “Bronchoalveolar lavage fluid in an infant with perinatal lethal Gaucher disease,” appeared in the journal Pediatrics International.

Gaucher disease causes bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen. PLGD is a severe form of type 2 Gaucher disease,  and manifests itself in the fetus before birth. Death can occur before birth or within 3 months of birth.

Doctors at Akita University Hospital in Akita, Japan, delivered the boy by cesarean section at 36 weeks, due to severe illness of the fetus. Only 23 days after birth, he was diagnosed with Gaucher disease, because he had a reduced activity of glucocerebrosidase, the deficient enzyme in Gaucher disease.

At 63 days old, doctors collected BALF from his lungs to confirm their diagnosis. Cells recovered from this fluid showed marked characteristics of Gaucher cells. Enzyme replacement therapy, which is the recommended treatment, did not help the infant, and one week later, he died from hemorrhagic shock with bleeding in the stomach and intestines.

The report’s authors identified the advantages of using BALF to diagnose PLGD. Collecting the fluid is simpler and less invasive than puncturing bone marrow or collecting skin cells. In addition, identifying Gaucher cells in the fluid gives quicker results than other tests. Yet BALF is still invasive, they maintain, and the procedure should be done only under sedation, with a careful assessment of the risks and benefits.

“Early and accurate diagnosis of PLGD is essential for future prenatal diagnosis,” the authors wrote. “For early diagnosis, these signs in newborns should arouse suspicion of PLGD. In such cases, the cytodiagnosis of BALF will be particularly useful as an adjunct to the early diagnosis of PLGD.”