Amarapurkar A D, Kher A, Agrawal R, Meenakshi B, Kandalkar B M, Deshpande J R
BYL Nair Charitable Hospital, Mumbai.
Trop Gastroenterol. 2004 Oct-Dec;25(4):176-7.
We present a rare case of steatohepatitis due to neutral lipid storage disorder in a 1.5-year-old male presenting with intermittent fever, hepatomegaly and dark-coloured urine. On examination, there was ichthyosis involving both the limbs. Liver biopsy showed steatohepatitis. The peripheral blood smear revealed fat vacuoles in the cytoplasm of leucocytes, characteristic of the Dorfman-Chanarin syndrome. Awareness of this condition helps in prompt diagnosis and avoids unnecessary further investigations.
我们报告了一例罕见的因中性脂质贮积病导致的脂肪性肝炎病例，患者为一名1.5岁男性，表现为间歇性发热、肝肿大和深色尿。检查发现四肢有鱼鳞病。肝活检显示脂肪性肝炎。外周血涂片显示白细胞胞质中有脂肪空泡，这是 Dorfman-Chanarin 综合征的特征。了解这种疾病有助于及时诊断并避免不必要的进一步检查。
