Zeng Han-Shi, Zhang Zhan-Hui, Hu Yan, Zheng Gui-Lang, Wang Jing, Zhang Jing-Wen, Guo Yu-Xiong
Department of Pediatrics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510030, Guangdong Province, China.
Department of Pediatrics, Clinical Medicine Research Institute, The First Affiliated Hospital, Jinan University, Guangzhou 510630, Guangdong Province, China.
World J Clin Cases. 2022 Sep 6;10(25):8932-8938. doi: 10.12998/wjcc.v10.i25.8932.
Alagille syndrome (ALGS) is an autosomal dominant genetic disorder caused by mutations in the or gene. It is characterized by decreased intrahepatic bile ducts associated with a variety of abnormalities in many other organ systems, such as the cardiovascular, skeletal, and urinary systems.
We report a rare case of ALGS. A 1-month-old male infant presented with sustained jaundice and had a rare congenital heart disease: Total anomalous pulmonary venous connection (TAPVC). Sustained jaundice, particularly with cardiac murmur, caught our attention. Laboratory tests revealed elevated levels of alanine aminotransferase, aspartate aminotransferase, gamma-glutamyl transpeptidase, total bilirubin, and total bile acids, indicating serious intrahepatic cholestasis. Imaging confirmed the presence of butterfly vertebra at the seventh thoracic vertebra. This suggested ALGS, which was confirmed by genetic testing with a c.3197dupC mutation in the gene. Ursodiol was administered immediately after confirmation of the diagnosis, and cardiac surgery was performed when the patient was 1.5 month old. He recovered well after treatment and was discharged at the age of 3 mo. At the age of two years, the patient returned to our clinic because multiple cutaneous nodules with xanthomas appeared, and their size and number increased over time.
We report a unique case of ALGS associated with TAPVC and severe xanthomas. This study has enriched the clinical manifestations of ALGS and emphasized the association between gene and TAPVC.
阿拉吉耶综合征（ALGS）是一种常染色体显性遗传病，由 或 基因的突变引起。其特征为肝内胆管减少，并伴有许多其他器官系统的各种异常，如心血管、骨骼和泌尿系统。
我们报告一例罕见的ALGS病例。一名1个月大的男婴出现持续性黄疸，并患有罕见的先天性心脏病：完全性肺静脉异位连接（TAPVC）。持续性黄疸，尤其是伴有心脏杂音，引起了我们的注意。实验室检查显示丙氨酸转氨酶、天冬氨酸转氨酶、γ-谷氨酰转肽酶、总胆红素和总胆汁酸水平升高，提示严重的肝内胆汁淤积。影像学检查证实第七胸椎存在蝴蝶椎。这提示了ALGS，基因检测证实存在c.3197dupC突变，从而确诊。确诊后立即给予熊去氧胆酸治疗，患者1.5个月大时进行了心脏手术。治疗后恢复良好，3个月大时出院。两岁时，患者因出现多个伴有黄色瘤的皮肤结节返回我院，且其大小和数量随时间增加。
我们报告了一例与TAPVC和严重黄色瘤相关的独特的ALGS病例。本研究丰富了ALGS的临床表现，并强调了 基因与TAPVC之间的关联。
