HERMANSKY-PUDLAK SYNDROME - A CASE-REPORT WITH ANALYSIS OF AUTOFLUORESCENT CEROID-LIKE PIGMENTS

The Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disease characterized by a triad of oculocutaneous albinism, accumulation of a uto-fluorescent ceroid-like pigments within macrophages, and bleeding tendency due to a storage pool disease of the platelets. We report an autopsy case (39y, male), who died of pulmonary fibrosis and hemorrhag e, with analysis of auto-fluorescent ceroid-like pigments (CLP). Pigme nted macrophages were seen in almost all organs, especially marked in bone marrow, spleen, liver, colon, lymph nodes and kidneys. Ultrastruc tually, CLP was intracytoplasmic electron-dense and -lucent congeries. Histochemical characteristics and autofluorescence of CLP showed simi larities to ceroid. Substance which revealed brilliant lemon yellow au tofluorescent was extracted from homogenized tissue of spleen with chl oroform/methanol (2:1), then separated by thin-layer chromatography. T he fluorescent substance had an excitation maximum at 360nm and a fluo rescence maximum at 440nm, which is the same characteristic as describ ed fluorescent lipid peroxidation products in vitro.