Lageron A, Gautier M, Scotto J
Arch Fr Pediatr. 1985 Aug-Sep;42 Suppl 1:605-11.
Two sisters, aged 6 and 9 years, presented with similar episodes of acute illness. Clinical, biological, pathological, ultrastructural, histochemical and biochemical investigations led to a diagnosis of cholesterol ester storage disease. The two have been followed for 7 years and during that time a number of features atypical of cholesterol ester storage disease have been observed. Severe jaundice, advanced fibrosis and decreased liver glycogen stored. Examination of liver and cultured fibroblasts showed excess esterified cholesterol storage and acid lipase deficiency as seen in Wolman disease.
两名姐妹，年龄分别为6岁和9岁，出现了类似的急性病发作症状。通过临床、生物学、病理学、超微结构、组织化学和生物化学检查，诊断为胆固醇酯贮积病。对这两名患者进行了7年的随访，在此期间观察到一些胆固醇酯贮积病的非典型特征。严重黄疸、进行性纤维化和肝脏糖原储存减少。肝脏和培养的成纤维细胞检查显示，存在过量的酯化胆固醇储存和酸性脂肪酶缺乏，这与沃尔曼病所见相同。
