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  • Title: [Two cases of Hermansky-Pudlak syndrome with interstitial pneumonia].
    Author: Nakano H, Suzuki A, Tojima H, Imahashi M, Kashiyama T, Watanabe A, Mizuguchi K, Kanai T, Shinozaki H, Kamei K.
    Journal: Nihon Kyobu Shikkan Gakkai Zasshi; 1989 Jul; 27(7):842-7. PubMed ID: 2810974.
    Abstract:
    Two cases of Hermansky-Pudlak syndrome with interstitial pneumonia were reported. Both patients had evidence of pulmonary involvement characterized by diffuse bilateral infiltrates. They had oculocutaneous albinism. Case 1 was a 55 year-old female who had a history of easy bruising. Her two sisters were albino and had died of pulmonary fibrosis. One of them was diagnosed as Hermansky-Pudlak syndrome on autopsy. Bone marrow aspirate disclosed typical macrophages with ceroid-like pigment. Transbronchial lung biopsy showed alveolar wall thickening. Lumi-aggregometer showed a decrease of platelet aggregation and an absence of ATP release. Case 2 was a 43 year-old female and had a bleeding tendency during a surgical procedure. Lumi-aggregometer showed normal platelet aggregation but an absence of ATP release. BALF analysis did not disclose macrophages with ceroid-like pigment.
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