Wolman病一例报道.DOC

溶酶体酸性酯酶缺乏症：Wolman病一例分析 【摘要】 目的 探讨Wolman病的临床特点及诊断方法，减少误诊误治。方法 对1例高度疑似Wolman病患儿进行白细胞酸性酯酶及血清壳三糖苷酶测定，并回顾分析影像学及病理学结果。结果 生后16天男婴，因呕吐、腹胀怀疑肠梗阻行剖腹探查术。术中发现肝、脾、淋巴结肿大，表面有黄色沉积物，小肠肿胀、僵硬。腹部X线平片及CT显示双侧肾上腺钙化。肝脏及淋巴结活检显示大量泡沫样细胞浸润。血清壳三糖苷酶572.78 nmol/（ml.h）[正常0-50 nmol/(ml.h)]。白细胞酸性酯酶3.5nmol/(mg.h)[正常参考范围35.5-105.8 nmol/（mg.h）]。结论 双侧肾上腺钙化是Wolman病的重要特征，对疑似Wolman 病的患儿，尤其是伴有进行性肝脾肿大、生长障碍的小婴儿应常规进行腹部X线平片检查了解有无典型的肾上腺钙化，Wolman病的确诊依赖于酸性酯酶测定。 【关键词】Wolman 病，酸性酯酶，壳三糖苷酶, 腹部X线/CT 扫描 Lysosomal Acid Lipase Deficiency：Wolman Disease in an Infant Objective： Wolman disease is a rare autosomal recessive lysosomal storage disease caused by deficiency of lysosomal acid lipase leading to accumulation of cholesterol ester. We explored clinical characteristics and diagnosis methods of Wolman disease based on a case of Wolman disease. Methods: We retrospectively reviewed the clinical, biochemical, radiological and histopathological findings of an infant with Wolman disease confirmed by deficient acid lipase activity in the leukocytes, which was measured using 4-methylumbelliferyl oleate. Results: The sixteen-day boy was failing to thrive with progressive vomiting, ditention and hepatosplenomegaly. Xanthomatosis were observed on enlarged liver,spleen and lymph nodes during abdominal surgery. Abdominal x-ray revealed adrenal calcifications which were confirmed on abdominal CT scan. Liver and lymph node biopsy showed foamy histiocytes The acid lipase activity in leukocytes was 3.5 nmol/(mg.h) [control 35.5-105.8 nmol/（mg.h）]. Serum chitotriosidase activity was 315.8 nmol/ （ml·h） [control 53 nmol/（ml·h）]. Conclusion: In suspected case of Wolman’s disease, a plain abdominal x-ray should be obtained to check for the typical pattern of adrenal calcification, especially in any young infant with failure to thrive and progressive hepatosplenomegaly. The estimation of acid lipase in leukocytes is critical to confirm the disease. Key Words: Wolman disease, acid lipase, chitotriosidase, abdominal x-ray/CT scan Wolman病(