Tuset E, Ribera J M, Doménech E, Vaquero M, Oller B, Armengol M, Planas R, Navarro J T, Feliu E
Servicio de Hematología, Hospital Universitari Germans Trias i Pujol, Badalona, Barcelona.
Med Clin (Barc). 1995 Mar 25;104(11):420-2.
The Alagille's syndrome consists in hypoplasia of the intrahepatic biliary ducts associated to congenital abnormalities of different organs. It is usually diagnosed in infancy due to cholestasis with good prognosis. The case of a 31-year old women who presented prominent chin, micrognathia, flattening of the nasal bone, infundibular stenosis of the pulmonary artery and cholestasis is reported. Ultrasonography demonstrated a lesion in the space of the hepatic caudate lobe with punction showing sinusoidal dilatation and infiltration of some portal spaces by lymphocytes, eosinophils and neutrophils. Samples of liver tissue obtained during laparotomy showed an absence of intrahepatic biliary ducts in the right and left lobes and preservation of those of the caudate lobe, which was also increased in size with a pseudotumoral appearance. The patients was asymptomatic with slight anicteric cholestasis at 16 months of diagnosis. The rarity of these forms of Alagille's syndrome with areas free of hypoplasia of the intrahepatic biliary ducts are of note.
阿拉吉列综合征表现为肝内胆管发育不全，并伴有不同器官的先天性异常。由于胆汁淤积，该病通常在婴儿期被诊断出来，预后良好。本文报告了一例31岁女性病例，该患者表现为下巴突出、小颌畸形、鼻骨扁平、肺动脉漏斗部狭窄和胆汁淤积。超声检查显示肝尾状叶间隙有病变，穿刺显示肝血窦扩张，一些门静脉间隙有淋巴细胞、嗜酸性粒细胞和中性粒细胞浸润。剖腹手术期间获取的肝组织样本显示，左右叶肝内胆管缺失，尾状叶肝内胆管保留，且尾状叶体积增大，呈假瘤样外观。该患者在诊断后16个月时无症状，仅有轻微的无黄疸胆汁淤积。值得注意的是，这些形式的阿拉吉列综合征中存在肝内胆管未发育不全区域的情况较为罕见。
