One case of Creutzfeldt-Jakob disease with restless leg syndrome as the first symptom and literature analysis
10.3760/cma.j.cn341190-20210112-00054
- VernacularTitle:以不宁腿综合征首发的克雅病1例并文献分析
- Author:
Zongqin LI
1
;
Jun LUO
;
Lan HU
;
Xuejie XU
;
Xianglan REN
;
Qin HE
Author Information
1. 四川绵阳四〇四医院神经内科，绵阳 621000
- Keywords:
Restless legs syndrome;
Creutzfeldt-jakob disease;
Patient acuity;
Prion proteins;
Cerebrospinal fluid;
Electroencephalography;
Magnetic resonance imaging;
C
- From:
Chinese Journal of Primary Medicine and Pharmacy
2022;29(10):1475-1479
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical features and auxiliary examination results of sporadic Creutzfeldt-Jakob disease (sCJD) with restless leg syndrome (RLS) as the first symptom.Methods:The clinical features and auxiliary examination results of one case of sCJD who received treatment in Sichuan Mianyang 404 Hospital were analyzed based on relevant literature.Results:A 59-year-old woman of Han nationality who had sCJD with restless leg-like manifestation of the left lower limb for 18 days was included in this study. The patient was first treated in orthopedic department, but her symptom did not improve after treatment. Twenty days later, she was transferred to neurology department for further treatment. Her daily life and activities were not affected. Head magnetic resonance imaging, electroencephalography, cerebrospinal fluid routine examination and biochemical test results were normal. Five days later, the patient had mild left-sided ataxia, which then progressed rapidly, followed by right-sided ataxia, left-leg spasticity and adduction, involuntary movement, myoclonia, cognitive decline, akinetic mutism, repeated hyperthermia, repeated complex partial seizures. Two weeks later, head magnetic resonance imaging examination revealed hyperintense signal of the cingulate gyrus, frontal cortex and right island cortex on DWI, with cerebellar atrophy and three-phase electroencephalography wave. Four weeks later, CSF14-3-3 protein was positive, and no related genetic mutation in the prion protein gene was found. The duration from onset to death was about 8 months.Conclusion:sCJD is a common subtype of prion protein disease, and the condition can be stabilized for more than 1 month after the onset of RLS. There is no specificity in early clinical and auxiliary examinations, and neither dobutazine treatment nor neurotrophic treatment is effective. The disease progresses rapidly after 1 month, head MRI and EEG reexamination can reveal clues, and CSF14-3-3 protein can assist clinical diagnosis.
