Hermansky’s Hypoxia: A Brain Teaser

Abstract

Hermansky-Pudlak syndrome (HPS) is a rare heterogeneously inherited autosomal recessive group of disorders presenting with oculocutaneous albinism, bleeding diathesis and pulmonary disease. HPS is thought to occur as a consequence of disturbed formation of intracellular vesicles, most importantly, melanosomes, platelet dense granules and lysosomes. These abnormalities contribute to the morbidity associated with the disease, as ceroid lipofuscin deposits in lysosomes affect many organ systems. This is especially evident in the lungs where it is often associated with severe pulmonary fibrosis and premature death. Clinical recognition of HPS is critical as it facilitates genetic counseling, aids in prognostication and directs medical management as in our patient who presented with end stage fibrosis and severe hypoxia. J Med Cases. 2014;5(10):522-524 doi: http://dx.doi.org/10.14740/jmc1920w