A case of hepatolenticular degeneration with high signal on diffusion weighted imaging

VernacularTitle:表现为弥散加权成像高信号的肝豆状核变性1例
Author: Hu XI ¹ ; Wenming YANG ; Yue YANG ; Hailin JIANG
Author Information

1. 安徽中医药大学第一附属医院脑病中心，合肥　230031
Keywords: Hepatolenticular degeneration; Magnetic resonance imaging; Diffusion weighted imaging
From: Chinese Journal of Neurology 2023;56(11):1298-1303
CountryChina
Language:Chinese
Abstract: Hepatolenticular degeneration (HLD) is a rare genetic metabolic disorder of the nervous system with complex and diverse clinical phenotypes and is difficult to diagnose. The common lesions of HLD brain area are basal ganglia, thalamus, cerebellum and other anatomical structures, the classic manifestations of brain magnetic resonance imaging are symmetrical bilateral lenticular nucleus with low signal on T 1WI and high signal on T 2WI, and it is extremely rare for cases with high signal intensity on diffusion weighted imaging (DWI) of the brain stem, bilateral cerebral peduncles, thalamus, and basal ganglia. This article reported a case of HLD with high signal on DWI for clinical reference.