An autopsy case of Hermansky-Pudlak syndrome associated with pulmonary fibrosis.

An autopsy case of Hermansky-Pudlak syndrome (HPS) was reported. In Japan, up till now, more than 30 patients with this disease have been described in the literature, in which the autopsy studies ware rare.A 39 year-old male was admitted of the hospital, because of cough and dyspnea on exertion. The family history revealed consaguineous marriage of his parents. He was albino and had often experienced the prolongation of epistaxis since his high school days. On admission, chest X-rays revealed bilateral pneumothorax and diffuse reticulonodular shadows. At sewing operation for pneumothorax, lung biopsy was performed, demonstrating pulmonary fibrosis and deposits of brownish granular materials in alveolar epithelia and macrophages. Lumi-aggregometer represented a decrease of secondary platelet aggregation and an absence of ATP release. From these results, the diagnosis of HPS associated with pulmonary fibrosis was settled. In spite of steroid therapy, he was died of pleural hemorrhage 9 days after operation. Autopsy revealed accumulation of brownish granular materials in the epithelial cells of renal tubules, alveolar macrophages, and in the cells of reticuloendothelial tissues, particularly in the bone marrow, spleen, and liver. The granular deposits were confirmed histochemically to be a ceroid pigment and ultrastructurally to consist of membrane-bound, osmophilic amorphous inclusions.From the clinical manifestaions and pathological findings, this case was considered to be a hereditary generalized ceroid storage disease associated with pulmonary fibrosis and these lesions were suggested to result from a lysosomal dysfunction of macrophages in tissues.