This case report aimed to broaden the understanding of pseudohypoparathyroidism (PHP) manifestations when typical mutations in the GNAS gene are absent. The clinical, biochemical, and genetic investigations of a PHP case revealed diagnostic challenges and emphasized the importance of comprehensive genetic analysis for early diagnosis and appropriate management, as well as improved patient outcomes. The case involved a 21-year-old man who has experienced recurrent limb convulsions and episodes of altered consciousness since the age of eight. Recent assessments during frequent hospitalization uncovered findings consistent with PHP, including hypocalcemia, hyperphosphatemia, elevated parathyroid hormone level, and short stature. Notably, genetic testing did not reveal mutations in the GNAS gene, which could be typically associated with PHP. Diagnostic tests revealed mild abnormalities in the electroencephalogram and multiple abnormal signals in brain magnetic resonance imaging, specifically in the caudate, lenticular, dentate, and thalamus nuclei. Cranial computed tomography scan confirmed symmetrical calcifications in the basal ganglia. Biochemical analysis revealed severely altered calcium and phosphorus metabolism. Routine endocrine and neurological evaluations yielded results within normal ranges. Genetic testing identified a novel missense mutation in the GHSR gene, which has not been reported in the database and may reasonably explain some of the patient’s phenotypic features. While mutations in the GNAS gene are the primary genetic markers for PHP, the presence of other genetic mutations in some cases complicates the clinical analysis. This case highlights the need for a comprehensive genetic screening approach in patients with PHP-like symptoms who do not exhibit mutations in the GNAS gene, to avoid misdiagnosis and ensure timely intervention. Not applicable.

Background:Studies have confirmed that optical coherence tomography angiography (OCTA) can detect early retinal microvascular impairment in many diseases. However, as far as we know, only one study has found retinal and optic disc microcirculation changes in Wilson's disease (WD) by OCTA. The purpose of our study was to evaluate the OCTA parameters in WD. Methods:We performed a cross-sectional study at the First Affiliated Hospital of Guangdong Pharmaceutical University between June 2021 and April 2022. A total of 42 WD patients and 40 gender- and age-matched healthy controls (HEC) were recruited in this study. WD patients were divided into neurological form (NWD) and hepatic form (HWD) of the disease. All participants underwent retinal OCTA to assess the superficial vessel density (VD), deep VD, and foveal avascular zone (FAZ) parameters. The FAZ parameters included the area in mm2, perimeter in mm, and VD of the 300 µm-width annulus surrounding FAZ (FD-300). Statistical tests used in this study included Chi-squared test, one-way analysis, correlation analysis, and t-test or Mann-Whitney U test. Results:WD patients comprised 21 females and 21 males, with mean age of 30.54±9.83 years. HEC comprised 16 females and 24 males, with mean age of 30.42±7.37 years. NWD had smaller FD-300 (51.67%±5.29% vs. 55.87%±3.85%, P<0.01) than HEC and smaller FD-300 (51.67%±5.29% vs. 55.42%±4.09%, P<0.05) than HWD. There was no significant difference in OCTA parameters between HWD and HEC. Conclusions:Our study indicated that OCTA may be a useful tool for detecting central nervous system (CNS) injury in WD. We speculate that the decrease of FD-300 may be a sign of CNS injury in WD.

Introduction Wernekinck commissure syndrome (WCS) is an extremely rare midbrain syndrome, which selectively destroys the decussation of the superior cerebellar peduncle and the central tegmental tract, which commonly presents with bilateral cerebellar ataxia, dysarthria, and internuclear ophthalmoplegia. Palatal myoclonus in Wernekinck commissure syndrome is uncommon and often occurs as a late phenomenon due to hypertrophic degeneration of bilateral inferior olivary nuclei. Material and method A patient with WCS, admitted to our hospital from December 2023, was chosen for this study, and the syndrome's clinical manifestations, imaging features, and etiology were retrospectively analyzed based on the literature. A 68-year-old right-handed East Asian man presented with dizziness, slurred speech, difficulty with swallowing and walking, and rhythmic contractions of the soft palate. He had several risk factors for ischemic cerebrovascular diseases (age, sex, dyslipidemia, hypertension and smoking history). Brain magnetic resonance imaging showed hyperintensity of DWI and hypointensity of ADC at the caudal midbrain which was around the paramedian mesencephalic tegmentum anterior to the aqueduct of midbrain. Results He was diagnosed with Wernekinck commissure syndrome (WCS) secondary to caudal paramedian midbrain infarction. He was started on dual antiplatelet therapy (aspirin and clopidogrel) and intensive statin therapy. Blood pressure and glucose were also adjusted. His symptoms improved rapidly, and he walked steadily and speak clearly after 7 days of treatment. Conclusions Palatal myoclonus is known to occur as a late phenomenon due to hypertrophic degeneration of bilateral inferior olivary nuclei. However, Our case suggests that palatal myoclonus can occur in the early stages in WCS.

Background and Aims: Distinctive gut microbial profiles have been observed between patients with Wilson disease (WD) and healthy individuals. Despite this, the exact relationship and influence of gut microbiota on the advancement of WD-related liver damage remain ambiguous. This research seeks to clarify the gut microbiota characteristics in both human patients and mouse models of WD, as well as their impact on liver injury. Methods: Gut microbial features in healthy individuals, patients with WD, healthy mice and mice with early- and late-stage WD were analysed using 16S rRNA gene sequencing. Additionally, WD-afflicted mice underwent treatment with either an antibiotic cocktail (with normal saline as a control) or healthy microbiota (using disease microbiota as a control). The study assessed gut microbiota composition, hepatic transcriptome profiles, liver copper concentrations and hepatic pathological injuries. Results: Patients with hepatic WD and mice with WD-related liver injury displayed altered gut microbiota composition, notably with a significant reduction in Lactobacillus abundance. Additionally, the abundances of several gut genera, including Lactobacillus, Veillonella and Eubacterium coprostanoligenes, showed significant correlations with the severity of liver injury in patients with WD. In WD mice, antibiotic treatment or transplantation of healthy microbiota altered the gut microbial structure, increased Lactobacillus abundance and modified the hepatic transcriptional profile. These interventions resulted in reduced hepatic copper concentration and alleviation of WD-related liver injury. Conclusions: Individuals and mice with pronounced WD-related liver injury exhibited shifts in gut microbial composition. Regulating gut microbiota through healthy microbiota transplantation emerges as a promising therapeutic approach for treating WD-related liver injury.

Abstract Background Morphological changes of retina in patients with Wilson's disease (WD) can be found by optical coherence tomography (OCT), and such changes had significant differences between neurological forms (NWD) and hepatic forms (HWD) of WD. The aim of this study was to evaluate the relationship between morphological parameters of retina and brain magnetic resonance imaging (MRI) lesions, course of disease, type of disease, and sexuality in WD. Methods A total of 46 WD patients and 40 health controls (HC) were recruited in this study. A total of 42 WD patients were divided into different groups according to clinical manifestations, course of disease, sexuality, and brain MRI lesions. We employed the Global Assessment Scale to assess neurological severity of WD patients. All WD patients and HC underwent retinal OCT to assess the thickness of inner limiting membrane (ILM) layer to retinal pigment epithelium layer and inner retina layer (ILM to inner plexiform layer, ILM–IPL). Results Compared to HWD, NWD had thinner superior parafovea zone (108.07 ± 6.89 vs. 114.40 ± 5.54 μm, p < .01), temporal parafovea zone (97.17 ± 6.65 vs. 103.60 ± 4.53 μm, p < .01), inferior parafovea zone (108.114 ± 7.65 vs. 114.93 ± 5.84 μm, p < .01), and nasal parafovea zone (105.53 ± 8.01 vs. 112.10 ± 5.44 μm, p < .01) in inner retina layer. Course of disease influenced the retina thickness. Male patients had thinner inner retina layer compared to female patients. Conclusion Our results demonstrated that WD had thinner inner retina layer compared to HC, and NWD had thinner inner retina layer compared to HWD. We speculated the thickness of inner retina layer may be a potential useful biomarker for NWD.

Objective To analyze and explore the risk factors for neurological symptoms in patients with purely hepatic Wilson's disease (WD) at diagnosis. Methods This retrospective study was conducted at the First Affiliated Hospital of the Guangdong Pharmaceutical University on 68 patients with purely hepatic WD aged 20.6 ± 7.2 years. The physical examinations, laboratory tests, color Doppler ultrasound of the liver and spleen, and magnetic resonance imaging (MRI) of the brain were performed. Results The elevated alanine transaminase (ALT) and aspartate transaminase (AST) levels and 24-h urinary copper level were higher in the purely hepatic WD who developed neurological symptoms (NH-WD) group than those in the purely hepatic WD (H-WD) group. Adherence to low-copper diet, and daily oral doses of penicillamine (PCA) and zinc gluconate (ZG) were lower in the NH-WD group than those in the H-WD group. Logistic regression analysis showed that insufficient doses of PCA and ZG were associated with the development of neurological symptoms in patients with purely hepatic WD at diagnosis. Conclusion The development of neurological symptoms in patients with purely hepatic WD was closely associated with insufficient doses of PCA and ZG, and the inferior efficacy of copper-chelating agents. During the course of anti-copper treatment, the patient's medical status and the efficacy of copper excretion should be closely monitored.

Objective To investigate the clinical and imaging features of the characteristic "heart appearance" isolated cerebral infarction involving bilateral pons-medulla oblongata. Methods The clinical and imaging data of 2 patients with bilateral pons-medulla oblongata "heart appearance" isolated infarction treated in our hospital from May 2019 to February 2020 were retrospectively analyzed. The published domestic and foreign literature of patients with this disease collected in PubMed, Web of Science, CNKI, WanFang and other databases in recent 10 years were also searched by computer, and the literature was subsequently reviewed and analyzed. Results The course of the disease in both patients was progressive, with clinical manifestations of bulbar palsy, sensory disturbance, progressive quadriplegia, and respiratory involvement. Brain magnetic resonance imaging (MRI) showed a typical "heart appearance" isolated infarction in the medial medulla or pons. Digital subtraction angiography (DSA) revealed vertebrobasilar atherosclerosis in case 1 and vertebrobasilar atherosclerosis, stenosis, and occlusion in case 2. A total of 29 patients were contained in 24 pieces of literature, including 21 cases of medulla oblongata infarction and 8 cases of pontine infarction, all with "heart appearance". Thereby a total of 31 patients, including 28 males, and 3 females, were reported by our center and the literature, with onset age of 32~87 (60.3±12.1) years. Among them, there were 29 cases of bulbar palsy symptoms (29/31, 93.55%), 23 of sensory impairment (23/31, 74.19%), 31 of quadriplegia (100%), 29 with progressive disease course (29/31, 93.55%), 23 with respiratory involvement (23/31, 74.19%), 24 with poor prognosis (24/29, 82.76%), and death in 6 cases (6/29, 20.69%). Of the 29 patients examined by MRA, CTA or DSA, 7 had no obvious abnormality or only atherosclerosis in the vertebrobasilar artery (7/29, 24.14%), 11 had vertebrobasilar stenosis or dysplasia (11/29, 37.93%), and the remaining 11 showed vertebrobasilar artery occlusion (11/29, 37.93%). Conclusion Isolated "heart appearance" infarction of the bilateral medial pons-medulla oblongata is clinically rare and has special morphological features on brain MRI. The etiology of such patients is mainly vertebrobasilar atherosclerosis, stenosis or occlusion. The course of the disease is often progressive, quadriplegia, and involves breathing, with critical condition, which is prone to misdiagnosis and missed diagnosis. Brain MRI and DSA examination are suggested to be performed as soon as possible to facilitate early diagnosis and treatment to improve the prognosis.

Introduction: Anemia is a common manifestation of chronic liver diseases. It is a predictor of severe disease, a high risk of complications, and poor outcomes in various liver diseases. However, it remains unclear whether anemia serves as a similar indicator in patients with Wilson disease (WD). Therefore, this study aimed to investigate the relationship between anemia and severity, hepatic complications, and the progression of WD. Methods: Medical data were collected retrospectively from January 1, 2016, to December 31, 2020. Univariate and multivariate analyses were carried out to investigate the relationship between anemia and liver-associated disease severity, hepatic complications, and the progression of WD. Results: A total of 288 WD patients (48 with and 240 without anemia) were enrolled in the study. Multivariate linear regression revealed that WD patients with anemia had significantly higher levels of bilirubin, alanine transaminase, prothrombin time, international normalized ratio, type Ⅳ collagen, and hyaluronic acid and significantly lower levels of albumin, total cholesterol, and high-density lipoprotein-cholesterol (all p < 0.05). Multivariate logistic regression showed that anemia was a risk factor for gastric varices and ascites (all p < 0.05). Fully adjusted Cox regression revealed that anemia was an independent risk factor for advanced Child-Pugh classification (p = 0.034). Conclusions: Anemia was common in WD patients and was associated with greater disease severity, a higher risk of hepatic complications, and a faster progression.

Abstract Background Anaplastic astrocytoma (AA) is rarely observed in the brainstem and the clinical symptoms and imaging manifestations vary, which present a great challenge to accurate clinical diagnosis. Case description A 56-year-old woman, with a month-long history of nausea and vomiting, was first diagnosed with acute cerebral infarction and demyelinating disease. The patient showed negative results on enhanced magnetic resonance and 18F-fluorodeoxyglucose positron emission tomography-computed tomography, and the clinical symptoms were not typical, leading to early misdiagnosis. Conclusion Finally, the patient was diagnosed with AA by pathological biopsy.

Objective: Lacunar infarction（LI） has a high prevalence and recurrence rates. Smoking is a risk factor for stroke and has a large population. At present, there are no studies on the clinical differences of symptomatic LI between patients with smoking and non-smoking. This study aimed to reveal the relationship between smoking and LI and help the treatment and primary and secondary prevention of LI. Methods: We performed a retrospective study of symptomatic LI in male patients. These patients were divided into the smoking group (SG) and non-smoking group (NSG). The variables with P<0.1 in univariate analysis were used as correction factors in multivariate logistic regression analysis. Results: We enrolled 202 smoking and 162 non-smoking male patients with symptomatic LI. Multivariate logistic regression analysis showed that the differences of SG age of onset<65Y（OR 2.461, 95%CI 1.524～3.973, P<0.001）, hyperlipidemia (OR 0.543, 95% CI0.332-0.887, P<0.05), drinking rate(OR 1.865, 95%CI 1.153-3.017, P<0.05), leukoaraiosis (OR 0.503, 95%CI 0.27-0.939, P<0.05), asymptomatic cerebral infarction (OR 0.484, 95% CI 0.276-0.846, P<0.05) and recurrence rate within 3 months of stroke (OR 2.792, 95% CI 1.014-7.691, P<0.05) were statistically significant. Conclusions: Smoking could lead to the onset age of symptomatic LI male patients significantly earlier, the prevalence of hyperlipidemia increased, accompanied by a higher drinking rate, with a higher incidence of leukoaraiosis and asymptomatic cerebral infarction. Smoking is a significant risk factor for LI. This study suggests that quitting smoking plays a vital role in the treatment and the primary and secondary prevention of LI.

Abstract Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is the most common mitochondrial disease. MELAS in the elderly onset is rarely seen. We herein describe the case of a 61-year-old male MELAS patient. He had experienced acute migraine-like headaches as the first symptoms. Laboratory data showed elevated lactate and creatine kinase levels. Brain MRI showed a high signal intensity lesion in the left occipital-temporal-parietal lobe on diffusion-weighted imaging (DWI). MR angiography revealed reversible vasoconstriction of the middle cerebral arteries and bilateral superficial temporal arteries. Muscle biopsy suggests minor muscle damage. A genetic study revealed a mitochondrial DNA A3243G point mutation. Ischemic cerebrovascular disease is a high incidence in the elderly. Elderly patients with high signal intensity on brain DWI are easily misdiagnosed as ischemic stroke. MELAS should be considered in elderly stroke-like attack patients with multi-lobe DWI high signal without corresponding responsible cerebrovascular disease. MELAS can be preliminarily considered according to MRA, DWI, muscle enzyme, and lactic acid. Suspected patients can be diagnosed with MELAS by muscle biopsy and/or gene detection. Reversible dilation of bilateral superficial temporal arteries supports mitochondrial dysfunction as one of the pathogenesis of migraine.

Background Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is one of the most common maternally inherited mitochondrial diseases which rarely affects elderly people. Case presentation We reported the case of a 61-year-old male patient with MELAS. He was experiencing acute migraine-like headaches as the first symptoms. Laboratory data showed elevated lactate and creatine kinase levels. Brain magnetic resonance imaging (MRI) found a high signal intensity lesion in the left occipital-temporal-parietal lobe on diffusion-weighted imaging (DWI). Magnetic resonance angiography (MRA) revealed reversible vasoconstriction of the middle cerebral arteries and superficial temporal arteries. A muscle biopsy suggested minor muscle damage. A genetic study revealed a mitochondrial DNA A3243G mutation. Conclusion Elderly onset of MELAS is rare and easily misdiagnosed as an ischemic stroke. MELAS with the onset of stroke-like episodes should be considered in adult or elderly patients with imaging findings that are atypical for cerebral infarction. The use of multimodal MRI in the clinical diagnosis of MELAS could be extremely beneficial.

Objective To analyze the initial symptom and the cause of the misdiagnosis of Wilson's Disease (WD) so as to enhance awareness of this condition and reduce diagnostic errors. Methods The clinical data of 179 patients with the confirmed diagnosis of WD who were hospitalized in the First Affiliated Hospital of Guangdong Pharmaceutical University from October 2014 to September 2021 were analyzed. Those patients who had attended two or more hospitals, had been misdiagnosed as other diseases, or failed to get a clear diagnosis for 3 months and over before hospitalization were included in the group of clinical misdiagnosis or the group without a definite diagnosis. Results One hundred twenty-nine cases (72.1%) were misdiagnosed, 39 cases (21.8%) failed to be diagnosed as a specific disease, and only 11 cases (6.2%) had been diagnosed as WD within 3 months at the early stage of the disease. WD was easily masqueraded as a variety of diseases, including all types of hepatitis, cirrhosis, splenomegaly, hepatomegaly, encephalitis, encephalopathy, peripheral neuropathy, psychosis, osteoarthrosis, nephrosis, anemia, and other illnesses. Conclusion Wilson's Disease is prone to long-term misdiagnosis or unclear diagnosis. Early diagnosis and treatment are the most important determinations of the prognosis. Therefore, when facing patients with doubtful WD, it is valued to perform Kayser–Fleischer ring, copper metabolism, imaging examination, genetic tests, and radioactive copper test if necessary.

Abstract Background: Morphological changes of retina in patients with Wilson’s disease (WD) can be found by optical coherence tomography (OCT), and such changes have significant differences between neurological forms（NWD ) and hepatic forms (HWD) of WD. We aimed to evaluate the relationship between morphological parameters of retina and brain magnetic resonance imaging (MRI) changes, course of disease, type of disease and sexuality in WD. This is a single center, prospective study including forty-six WD patients and forty healthy controls (HC). We employed theGlobal Assessment Scale (GAS) to assess the the neurological sign of WD patients. Results: NWD had thinner superior parafovea zone (108.07±6.89 um vs. 114.40±5.54 um, p<0.01), temporal parafovea zone (97.17±6.65 um vs. 103.60±4.53 um, p<0.01), inferior parafovea zone (108.114±7.65 um vs. 114.93±5.84 um, p<0.01) nasal parafovea zone (105.53±8.01 um vs. 112.10±5.44 um, p<0.01) in inner retina thickness than HWD. The course of disease influenced the retina thickness, male patients had thinner inner retina thickness than female patients. Conclusion: Our results demonstrated that WD had thinner inner retina thickness than HC and NWD had thinner inner retina thickness than HWD. We spectualted the thickness of inner retina layer may a potential useful biomarker for NWD.

Objective: To study the polymorphism distribution of estrogen receptor (ER) α gene and the correlation between different types of polymorphism in multiple sclerosis (MS) and neuromyelitis optica (NMO) patients. Methods: Forty-six cases of MS and NMO diagnosed from June 2018 to December 2019 were collected. Peripheral venous blood samples were collected. The patient’s gender, age of onset, course of disease, and other clinical data were recorded. Fifty-eight healthy volunteers of the same age and sex were selected. By means of Pvu II and Xba I restriction fragment length polymorphism enzyme recognition sites of ER α gene, polymerase chain reaction-restriction fragment length polymorphism analysis was conducted. Results: There was no significant difference in the frequency distribution of ER α gene’s PP, Pp, and pp genotype between MS and NMO case group and control group (P = .598). Frequency distribution of ER α gene’s XX, Xx, and xx was statistically significant between MS and NMO case group and control group (P = .021). Among them, distribution of Xx and Xx gene frequency between patient group and the control group was statistically significant (P = .001, OR = 4.622, 95% CI: 1.803–11.852). There was no significant correlation between ER α genotypes and the onset age in patient group (P > .05). The difference was statistically significant in disease duration of XX and Xx genotype (P = .006). The comparison of Xx and xx genotype frequency distribution in gender exists a difference(P = .047, OR = 7.500, 95% CI: 1.023–54.996). Conclusions: Xba I gene polymorphisms in the ER α gene have correlation with MS and NMO. Xba I gene could be a risk factor of MS and NMO pathogenesis, especially the women with Xx genotype are more vulnerable. Xba I gene polymorphisms in the ER α gene may impact the disease duration of MS and NMO, or rather, the disease duration of Xx genotype persists longer than Xx genotype. Pvu II gene polymorphisms in the ER α gene has no correlation with MS and NMO.

Objective Complications affect the outcome of patients with cirrhosis. The favorable prognosis of patients with Wilson disease (WD)-related cirrhosis suggests that its complications differ from those of hepatitis B virus (HBV) infection-related cirrhosis. We aimed to delineate the differences in complications between WD-related and HBV-related cirrhosis. Methods The electronic-medical data from patients with WD-related and HBV-related cirrhosis were extracted and analyzed. Results In total, 211 patients with WD-related cirrhosis and 374 patients with HBV-related cirrhosis were enrolled. Most patients with WD progressed to cirrhosis <10 years after disease onset, whereas those with HBV infection often progressed after >10 years. Patients with WD-related cirrhosis had a markedly lower prevalence of ascites (8.5% vs. 38.5%), gastroesophageal varices/variceal bleeding (13.3% vs. 47.6%), renal impairment (0 vs. 7.6%) and primary liver cancer (0 vs. 39.3%; all p < .001) than those with HBV-related cirrhosis. After adjustment for potential confounders, patients with WD-related cirrhosis carried a lower risk of varices/variceal bleeding. Conclusions Although patients with WD progressed to cirrhosis much faster, the prevalence of complications from WD-related cirrhosis was low. Patients with WD-related cirrhosis were less likely to develop gastroesophageal varices/variceal bleeding than those with HBV-related cirrhosis.

To measure the linear structure of the brain in patients with Wilson's disease (WD) and analyze its correlation with neurological symptoms. A total of 174 patients diagnosed with WD were enrolled. According to the type of clinical presentation, the patients with WD were divided into two groups: neurological (NWD) and hepatic (HWD). Sixty healthy volunteers were assigned to a control group. All patients with WD and healthy controls underwent brain magnetic resonance imaging (MRI). The severity of the neurological symptoms was assessed using the Burke Fahn Marsden Movement subscale (BFM-M). Linear brain measurements were performed using T1-weighted MRI scans of all the patients, and the correlation between these linear indices and BFM-M score was investigated. The Huckman index, third ventricle width, and sulcus width of the NWD group were significantly higher than those of the HWD and control groups (P < .05). The frontal horn index, ventricular index, and lateral ventricular body width index of the NWD group were significantly lower than those of the HWD and control groups (P < .05). The Huckman index and third ventricle width of the HWD group were higher than those of the control group (P < .05), whereas the body width index of the lateral ventricle was lower than that of the control group (P < .05). The BFM-M score correlated with the Huckman index (r = 0.29, P < .05), third ventricle width (r = 0.426, P < .001), and lateral ventricular body width index (r = -0.19, P < .05). This study demonstrated significant changes in the linear structure of patients with WD. Linear brain measurement analysis could be used as a potential method to assess the severity of neurological symptoms in WD.

Background:Hepatolenticular degeneration (HLD), also known as Wilson disease (WD), is a rare autosomal-recessive hereditary disease, which is often missed and misdiagnosed because of its various clinical manifestations. And WD is even more rare with giant subarachnoid cysts. In this report, we will provide a case of WD with an intracranial arachnoid cyst (IAC). Case description:A 27-year-old woman was hospitalized in a traditional Chinese medicine hospital in Guangzhou with the first manifestation of a "slight involuntary tremor of her left upper limb". There was no improvement after acupuncture treatment, and then she was transferred to another large general hospital in Guangzhou. MRI examination of the head showed "left frontal, parietal and temporal giant subarachnoid cyst" and the patient underwent "left frontotemporal arachnoid cyst celiac shunt operation." After the operation, the patient's left limb shaking remained unchanged. Subsequently, the patient was referred to another big hospital in Guangzhou, considered "Parkinson's disease," and given "Medopa, Antan" and other treatments. However, the patient's limb shaking continued to increase and gradually developed to the extremities. At last, the patient was referred to our hospital, combined with the medical history, neurological signs, and auxiliary examination results, improve the examination of corneal K-F ring, blood ceruloplasmin, gene screening, and other tests; the diagnosis was confirmed as hepatolenticular degeneration. Conclusion:After expelling copper and symptomatic treatment, the condition is improved.