Adult cerebral hepatolenticular degeneration: report of one case with literature review
10.3760/cma.j.cn114798-20220228-00140
- VernacularTitle:成人脑型肝豆状核变性1例并文献复习
- Author:
Yupeng CHEN
1
;
Yi QU
;
Jiangting LI
;
Zheng XUE
;
Zhe MIN
;
Yongjie XIONG
Author Information
1. 华中科技大学同济医学院附属同济医院神经内科，武汉 430030
- Keywords:
Hepatolenticular degeneration;
ATP7Bgene;
Diagnosis;
Echoencephalography;
Wilson′s disease
- From:
Chinese Journal of General Practitioners
2022;21(9):876-879
- CountryChina
- Language:Chinese
-
Abstract:
A 26-year-old male presented with tremor of bilateral shoulders and hands as the major symptom and also had cognitive and emotional abnormalities for more than 1 year, who was diagnosed as cerebral hepatolenticular degeneration (HLD) in Tongji Hospital of Huazhong University of Science and Technology in October 2021. The serum ceruloplasmin and urine copper levels of the patient were 0.023 g/L and 3760.00 μg/24 h, respectively, and the Kayser-Fleischer (K-F) ring was seen in the cornea. Genetic testing revealed a homozygous mutation of ATP7B gene c.2975C>T (p.Pro992Leu), while transcranial sonography (TCS) showed lenticular nucleus hyper-echogenicity. The literature was searched using hepatolenticular degeneration and transcranial sonography as key words; and 9 articles involving 150 HLD cases were obtained. The lenticular nucleus hyper-echogenicity was presented in 76.9% HLD patients (150/195), while only in 12.7% healthy subjects (17/134) ( P<0.001), suggesting that advanced transcranial sonography can detect the metal deposition and may be used for diagnosis of cerebral HLD.
