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Updated: Aug 8, 2025

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
A case of Hermansky-Pudlak with dyspnea
Ali Hossein Samadi Takaldani1, Nima Javanshir2, Maryam Salimi3
1Department of Internal Medicine (Pulmonology Division), School of Medicine, Ardabil University of Medical Sciences, Ardabil, Iran.
Abstract:
Hermansky-Pudlak syndrome (HPS) is a rare multisystem disorder inherited in an autosomal recessive manner. Its prevalence is 1 in 500 000 to 1 000 000 people worldwide. The cause of this disorder is genetic mutations that lead to defective organelles of lysosomes. In this report, a 49-year-old man is introduced who was referred to the medical center with ocular albinism and recently exacerbated shortness of breath. Imaging showed peripheral reticular opacities, ground-glass opacities of the lungs with subpleural sparing in some regions, and thickening of bronchovascular bundles, which were all in favor of non-specific interstitial pneumonia. This imaging pattern is an unusual finding in a patient with HPS.
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