CTICasesHermansky-Pudlak Syndrome
Imaging findings
CT chest in a patient with oculocutaneous albinism shows progressive, diffuse ground-glass opacities, septal thickening, and peripheral traction bronchiectasis with subpleural sparing, consistent with pulmonary fibrosis.
Key takeaways
Hermansky-Pudlak syndrome is a rare autosomal recessive lysosomal storage disorder characterized by oculocutaneous albinism, platelet dysfunction, and progressive pulmonary fibrosis. The fibrosis is driven by dysfunction of type II pneumocytes containing giant lamellar bodies, presenting as a fibrotic interstitial lung disease pattern in young adults.
AI-assisted summary — may contain errors. Verify against the source video. Learn more
More from this webinar
- Renocaval Arteriovenous FistulaVascular
- Superior Vena Cava AneurysmVascular
- Subtle Pulmonary Nodule on Lateral Chest RadiographOther
- Rasmussen Aneurysm in COVID-19 associated MucormycosisInfection
- Shifting Lobar Atelectasis and Pneumothorax ex VacuoOther
- HHV-8 Related Multicentric Castleman Disease, Kaposi Sarcoma, and PELNeoplastic
- Diffuse Large B-Cell Lymphoma mimicking IgG4-Related DiseaseNeoplastic
- Intrapericardial ParagangliomaNeoplastic
See all cases from October 1, 2021 →
Related Congenital cases
- Absent Right Upper Fissure
- Bilateral Ductus Arteriosus (with Atresia of Right Pulmonary Artery Connection)
- Neurofibromatosis Type 1 (NF1) with Ribbon Ribs and Dural Ectasia
- Aberrant Bronchial Artery from Left Subclavian Artery and Left Atrial Diverticulum
- Bronchopulmonary Sequestration (Hybrid Lesion with Bronchial Atresia)
- Persistent Levoatrial Cardinal Vein