Hermansky-Pudlak syndrome complicated by pulmonary fibrosis.

A 45-year-old woman from Puerto Rico presented to the emergency department with progressively worsening dyspnea over a 3to 4-day period. She had been diagnosed with type 1 Hermansky-Pudlak syndrome complicated by pulmonary fi brosis 4 years earlier. Previous renal biopsy demonstrated nephrosclerosis secondary to HermanskyPudlak syndrome. A brother also had Hermansky-Pudlak syndrome complicated by pulmonary fi brosis. Despite receiving 6 L of oxygen via nasal cannula at home, her oxygen saturation had fallen to 80% to 85%. She was subsequently admitted to the intensive care unit and intubated. Broad-spectrum antibiotics were initiated for a presumptive diagnosis of pneumonia. A chest radiograph obtained at the time of admission showed reticular opacities throughout the bilateral lungs (Figure 1). Th ere was no evidence of consolidation. Contrast-enhanced chest computed tomography (CT) demonstrated extensive subpleural honeycombing, consistent with pulmonary fi brosis (Figures 2 and 3). Patchy ground-glass opacity was also present bilaterally. Th e patient had been scheduled for lung and kidney transplant but had fatal cardiac arrest in the intensive care unit and died.