Niemann-Pick disease type B and heterogeneous manifestations of its liver involvement： A case report

VernacularTitle:B型尼曼-皮克病及其肝脏受累的异质性表现1例报告
Author: Qiao YANG ¹ ; Yi SHEN ² ; Yue SHI ³ ; Jin WANG ³ ; Fangfang LYU ¹
Author Information

1. Department of Infectious Diseases， Sir Run Run Shaw Hospital， Zhejiang University School of Medicine， Hangzhou 310016， China
2. Biomedical Research Center， Sir Run Run Shaw Hospital， Zhejiang University School of Medicine， Hangzhou 310016， China
3. Department of Pathology， Sir Run Run Shaw Hospital， Zhejiang University School of Medicine， Hangzhou 310016， China
Publication Type:Case Reports
Keywords: Niemann-Pick Disease， Type B; Hepatomegaly; Genetic Diseases， Inborn; Genetic Testing
From: Journal of Clinical Hepatology 2024;40(2):356-360
CountryChina
Language:Chinese
Abstract: This article reports a case with the chief complaint of “hepatosplenomegaly to be investigated” and a confirmed diagnosis of Niemann-Pick disease type B after various tests， and a literature review was conducted to summarize the heterogeneous manifestations of liver involvement in type B Niemann-Pick disease， in order to improve the clinical management of difficult and rare liver diseases.