[A case report and literature review of pontocerebellar hypoplasia type 13 combined with abnormal liver function caused by VPS51 gene variation]

Abstract

患儿，男，1岁1个月，主诉"转氨酶反复升高6月余"。主要临床表现为整体发育迟缓，精神运动发育落后，小头畸形，肌张力低；实验室检查表现为反复肝功能异常，铜蓝蛋白降低；头颅影像学显示胼胝体薄，脑室系统扩大，脑沟裂池变深、增宽；肝脏病理表现为肝细胞轻度小泡性脂肪变性伴肝纤维化；基因检测结果提示空泡蛋白分选相关蛋白51基因变异。.

Keywords: Child; Global developmental delay; Liver dysfunction; Vacuolar protein sorting-associated protein 51 homolog.