Pediatric unilobar resection in primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) causes chronic infections and progressive bronchiectasis that can lead to severe lung disease. Because there are no cures or regenerative therapy options for PCD, treatment of severe lung disease in PCD is focused on managing symptoms, including aggressive administration of antibiotics and diligent airway clearance. The Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) does not recommend routine lobectomy, reserving its use for "rare cases of PCD with severe, localized bronchiectasis" and warns that a lobectomy should be treated with caution. However, if aggressive medical management fails, selective surgical removal of severely defective lung may result in maintenance or improvement of pulmonary function. Certainly, the decision to recommend lung resection in the face of chronic bronchiectasis from PCD requires an extensive discussion before it is considered as an alternative treatment. The purpose of this manuscript was to demonstrate that in selected cases of unilobar disease with bronchiectasis that are not responsive to other therapies (antibiotics and airway clearance), removal of localized necrotic areas of the lung along with prophylactic antibiotics can improve the quality of life of children with PCD associated bronchiectasis and improve growth and nutritional status, and pulmonary function.

Night of Kentucky blues: the case of the hypoxic child in the sleep laboratory.

CITATION: Sleep-disordered breathing is an increasingly identified condition in the pediatric population, resulting in an increasing number of direct-to-lab referrals for polysomnography (PSG). We present a unique case of a pediatric patient who demonstrated continuous hypoxemia during PSG. A 6-year-old Black female presented for PSG via direct referral with obstructive sleep apnea as a concern. At the onset of the PSG, oxygen saturation of 85% while awake and at rest was noted. The oxygen saturation did not improve despite troubleshooting, probe and patient repositioning, or probe replacement. The PSG demonstrated an average sleep oxygen saturation of 81%, with oxygen saturation nadir of 73% and apnea-hypopnea index = 6.1 events/h, consistent with mild obstructive sleep apnea with persistent desaturation. Hemoglobin electrophoresis was consistent with hemoglobin Louisville. This case illustrates that communication between the sleep medicine physician and the community physician after a direct to lab referral is crucial to avoid concern and confusion. CITATION: Sendon C, Carosella C, Melendres C. Night of Kentucky blues: the case of the hypoxic child in the sleep laboratory. J Clin Sleep Med. 2021;17(10):2125-2128.

ITGB (Integrin subunit beta) 3 mutation involved in pulmonary hemorrhage and osteopetrosis.

We report on a previously healthy infant who presented with pulmonary hemorrhage due to a rare hematologic disorder. He also had imaging and laboratory studies suggestive of osteopetrosis. A genetic testing uncovered a previously known integrin gene possibly involving both hematologic and bone tissues; however, the latter has been described only in mouse models.