He had experienced shortness of breath for years, but had been well until 4 weeks earlier. He showed congenital albinism, amblyopia, and photodermatosis, but had received no previous medication for the condition. He was a massager, drank distilled spirits about 250 ml/day, and had smoked occasionally. The patient’s family history revealed that his parents were cousins. There is no history

of albinism in his family, but his father died of pulmonary disease at approximately 50 years. On admission, body temperature was normal range, pulse rate was 95 beats per minute, blood pressure was 110/60 mmHg, respiratory rate was 25 ∼ 30 breaths per minute, and oxygen saturation was 82% in ambient air, increasing to 95% with oxygen supplementation (3 l) by nasal cannula. Physical examination on admission revealed blond hair, blond body hair, pale white skin, and erythema on the upper selleck screening library and lower extremities and neck (Fig. 1). The patient had amblyopia, strabismus, and horizontal nystagmus. Fine crackles in the bilateral lower lung fields were detected, but heart sounds were normal. He had neither clubbed finger nor edema. The results of abdominal and neurological

examinations were normal. Olaparib concentration Laboratory results on admission are shown in Table 1. Although the patient was anemic, white blood cell and platelet counts were normal, and congealing fibrinogenolysis was also normal. Blood chemistry showed elevation of lactate dehydrogenase (LDH), sialylated carbohydrate antigen (KL-6) levels. Chest radiography showed bilateral volume loss, and the lower lobes showed dominantly diffuse linear and reticular opacity with ground-glass opacity in both lung fields. Chest Oxymatrine CT showed bilateral diffuse ground-glass opacity associated with mild traction

bronchiectasis and reticulation which was consistent with acute exacerbation on chronic fibrosing interstitial pneumonia ( Figs. 2 and 3). A transthoracic echocardiogram showed mild right ventricular hypokinesis, but left ventricular function was normal. There were no clinical signs of pulmonary infection. We diagnosed acute exacerbation of interstitial pneumonia, and treated with high-dose corticosteroid (methylprednisolone, 1000 mg/day for three days followed by oral prednisone at a dose of 40 mg/day). His clinical symptoms and findings on high-resolution CT slowly improved; therefore, additional corticosteroid pulse therapy and pirfenidone were administered for fibrosing interstitial pneumonia. Subsequently, his breathing condition, clinical marker levels, and chest imaging results stabilized, but he needed long-term oxygen therapy. Because the patient had interstitial pneumonia with albinism, we investigated the possibility of HPS. Therefore, bone marrow biopsy, platelet aggregation test, and genetic diagnosis were performed to diagnose HPS. A platelet aggregation test revealed a lack of secondary wave aggregation with normal first aggregation of ADP (Table 1).