Brain susceptibility changes in neurologically asymptomatic pediatric patients with Wilson’s disease: evaluation with quantitative susceptibility mapping

2018 ◽  
Vol 59 (11) ◽  
pp. 1380-1385 ◽  
Author(s):  
Sibel Saracoglu ◽  
Kazim Gumus ◽  
Selim Doganay ◽  
Gonca Koc ◽  
Ayse Kacar Bayram ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Wilson’S Disease ◽  
Central Nervous System Involvement ◽  
Wilson's Disease ◽  
Susceptibility Mapping ◽  
Copper Accumulation ◽  
Control Group ◽  
Mr Images ◽  
Quantitative Susceptibility Mapping ◽  
Asymptomatic Patients

Background Wilson’s disease (WD) is a copper metabolism disorder that causes hepatolenticular degeneration. It is important to diagnose WD before central nervous system involvement. Purpose To demonstrate the early susceptibility changes associated with the copper accumulation in the brain of neurologically asymptomatic pediatric patients with WD using quantitative susceptibility mapping (QSM). Material and Methods Twelve patients with neurologically asymptomatic WD (mean age = 13.7 ± 3.3 years) and 14 age-matched controls were prospectively examined using a 1.5-T clinical scanner. Routine magnetic resonance (MR) sequences and a three-dimensional multi-echo spoiled gradient echo (GRE) sequence were used and QSM maps were reproduced. The quantitative susceptibility of corpus striatum, thalamus, substantia nigra, and pons were analyzed with the region of interest analysis on QSM maps. The susceptibility values of two groups were statistically compared using a two-sample t-test. Results Conventional MR images of the patients and control group were similar. However increased magnetic susceptibility in the thalamus, pons and left posterior putamen were observed in the patients compared to the control group ( p < 0.05). Conclusion We observed statistically increased susceptibility values in the brains of neurologically asymptomatic patients with WD although the conventional MR images were normal. This might be compatible with early brain impairment, before neurological symptoms occur.

Assessment of cardiac function and electrocardiographic findings in patients with Wilson’s disease

2019 ◽  
Vol 29 (09) ◽  
pp. 1183-1188
Author(s):  
Asuman N. Karhan ◽  
Hayrettin H. Aykan ◽  
Ersin Gümüş ◽  
Yasemin Dönmez ◽  
Dursun Alehan ◽  
...  
Keyword(s):  
Patient Group ◽  
Doppler Echocardiography ◽  
Wilson’S Disease ◽  
Tissue Doppler ◽  
Wilson's Disease ◽  
Left Ventricular ◽  
P Wave ◽  
Tissue Doppler Echocardiography ◽  
Control Group ◽  
P Wave Dispersion

AbstractBackground:This study evaluated cardiac function using tissue Doppler echocardiography and assessed electrocardiographic findings in children diagnosed with Wilson’s disease.Method:Asymptomatic patients with a diagnosis of Wilson’s disease (n = 43) were compared to healthy controls (n = 37) that were age and gender matched.Results:The standard electrocardiographic and conventional echocardiographic examinations were similar in both groups. The left ventricular ejection fraction, shortening fraction, and diastolic function were not significantly different between the two groups. The Tei index for mitral lateral, mitral septal, tricuspid lateral, tricuspid septal, and inter-ventricular septum on tissue Doppler echocardiography was higher in the patient group, yet it did not reach statistical significance. Mitral lateral and septal systolic annular velocity values were significantly lower in the patient group when compared to the control group (p = 0.02 and 0.04, respectively). Also, mitral lateral and septal isovolumetric contraction time values were higher in the patient group (p = 0.04). Although the left ventricular values were not significantly different, relative left ventricular wall thickness was higher in the patient group when compared to the control group, and concentric remodelling in the left ventricle was found in 7 (16%) of 42 patients. QT interval (p = 0.02) and P-wave dispersion values (p = 0.04) were significantly higher in the patient group compared to the control group, and these tend to predict arrhythmias.Conclusion:Our study based on the tissue Doppler echocardiography assessment indicated a subclinical systolic, rather than diastolic, dysfunction in the myocardium with increased QT interval and P-wave dispersion, despite the young age of the patients and short disease duration.

scholarly journals A Case of Wilson’s Disease Presenting with Persistant Hemolysis

2021 ◽  
pp. 90-95
Author(s):  
Vrinda Vijayakumari ◽  
Kaliyannan Mayilananthi ◽  
Durga Krishnan ◽  
Ramprasath Anbazhagan ◽  
Gaurav Narayanan
Keyword(s):  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Interesting Case ◽  
Autosomal Recessive Disorders ◽  
Asymptomatic Patients ◽  
Hepatocellular Jaundice ◽  
Recessive Disorders ◽  
Psychiatric Manifestations

Wilson’s disease is one the rare autosomal recessive disorders of copper metabolism due to mutation in ATP7B gene located in chromosome 13. The mutations of this gene cause accumulation of copper in different tissues such as brain, liver, and eyes. The clinical presentation usually reflects this tissue distribution and varies from asymptomatic patients to those with hepatic or neuro-psychiatric manifestations. Here, we report an interesting case of Wilson’s disease which presented with mild persistent hemolysis leading to pre hepatic and post hepatic jaundice. He also had hepatocellular jaundice due to liver injury.

scholarly journals Microstructure changes in whiter matter relate to cognitive impairment in Wilson’s disease

2019 ◽  
Vol 39 (3) ◽  
Author(s):  
Ting Dong ◽  
Wen-ming Yang ◽  
Ming-cai Wu ◽  
Juan Zhang ◽  
Peng Huang ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Cognitive Function ◽  
Wilson’S Disease ◽  
Diffusion Tensor ◽  
Genetic Disorder ◽  
Brain Mri ◽  
Wilson's Disease ◽  
Copper Accumulation ◽  
Lentiform Nucleus ◽  
Impaired Cognitive Function

Abstract Purpose: Wilson’s disease (WD) is a genetic disorder of copper metabolism with pathological copper accumulation in the brain. The purpose of the present study was to evaluate the relationship between the damaged white matter and the impaired cognitive function in WD patients. Materials and methods: Thirty WD adolescents and thirty age- and sex-matched healthy controls (HC) were enrolled. All subjects had received brain MRI, including conventional and diffusion-tensor imaging (DTI) scans. The DTI parameter of fractional anisotropy (FA) was calculated by diffusion kurtosis estimator software. The t test was used to compare the differences between two groups. The correlation between cognitive function and whiter matter disorders were analyzed by linear regression. The results of FA parameter and MD parameter intergroup analysis were both corrected with False Discovery Rate (FDR) simulations by SPSS. Results: WD adolescents showed significantly lower scores of time-based prospective memory (TBPM) and verbal fluency test (VFT) compared with HC. We found significantly higher FA in the right thalamus, right lentiform nucleus, left thalamus, left lentiform nucleus, and brain stem in WD adolescents. Besides, WD adolescents exhibited significantly lower FA in right cerebellum and cingulum and left middle frontal lobe compared with controls (P<0.05). There were significantly negative correlations between FA in bilateral lentiform and thalamus and cognitive impairment in WD adolescents (P<0.05). Conclusion: The whiter matter of WD adolescents was impaired and mainly distributed in subcortical brain regions. The impaired cognitive function was affected by the damaged whiter matter. The present study may be helpful for recognition and understanding of WD.

Treatment of Wilson’s disease with zinc from the time of diagnosis in pediatric patients: A single-hospital, 10-year follow-up study

2005 ◽  
Vol 145 (3) ◽  
pp. 139-143 ◽  
Author(s):  
Matilde Marcellini ◽  
Vincenzo Di Ciommo ◽  
Francesco Callea ◽  
Rita Devito ◽  
Donatella Comparcola ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Follow Up Study

scholarly journals Acute-Onset Optic Neuropathy in Wilson’s Disease

2019 ◽  
Vol 9 (3) ◽  
pp. 520-525
Author(s):  
Liyung Tiffany Chou ◽  
Derek Horkey ◽  
Mark Slabaugh
Keyword(s):  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Vision Loss ◽  
Wilson's Disease ◽  
Acute Onset ◽  
Copper Accumulation ◽  
Hepatolenticular Degeneration ◽  
Ocular Manifestations ◽  
Excess Copper ◽  
Autosomal Recessive Condition

Wilson’s disease (WD), also known as hepatolenticular degeneration, is a rare autosomal recessive condition of excess copper accumulation that is most commonly associated with hepatic, neurologic, psychiatric, and ocular manifestations. While Kayser-Fleischer rings and sunflower cataracts are well known in WD, visual impairment is very rare. We report the case of a 20-year-old female who presented with acute liver failure and associated monocular vision loss. WD was found to be a cause of her liver disease and decreased vision.

Wilson’s disease

Open Medicine ◽  
2010 ◽  
Vol 5 (2) ◽  
pp. 145-149
Author(s):  
Mehmet Hursitoglu ◽  
Mehmet Cikrikcioglu ◽  
Ahmet Danalioglu ◽  
Tufan Tukek
Keyword(s):  
Wilson’S Disease ◽  
Clinical Manifestations ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Copper Accumulation ◽  
Genetic Studies ◽  
Initiation Of Therapy ◽  
The Brain ◽  
Underlying Pathophysiology

AbstractWilson’s disease is an autosomal-recessive disorder caused by mutation in the ATP7B gene. Absent or reduced function of ATP7B protein leads to decreased hepatocellular excretion of copper into bile. Subsequent copper accumulation, first in the liver but ultimately in the brain and other tissues, produces different clinical manifestations such as hepatic, neurological, hematological, ophthalmological, and psychiatric problems. Diagnosis is based on clinical suspicion, parameters of copper metabolism, ophthalmic examination (Kayser-Fleischer rings) and a liver biopsy. Genetic studies are of limited use. Early diagnosis and initiation of therapy with chelators and therapeutic plasma exchange therapy are essential for prognosis. Liver transplantation corrects the underlying pathophysiology and can be lifesaving in fulminant hepatic failure. Screening of siblings and 1st degree relatives of the patients is also important.

Studies with Radioactive Copper (64Cu and 67Cu); The Incorporation of Radioactive Copper into Caeruloplasmin in Wilson's Disease and in Primary Biliary Cirrhosis

1971 ◽  
Vol 41 (3) ◽  
pp. 189-202 ◽  
Author(s):  
Kathleen Gibbs ◽  
J. M. Walshe
Keyword(s):  
Primary Biliary Cirrhosis ◽  
Control Subject ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Turnover Time ◽  
Control Group ◽  
Biliary Cirrhosis ◽  
Liver Copper ◽  
Secondary Rise ◽  
Copper Overload

1. A comparison has been made of the handling of radioactive copper by patients with Wilson's disease, patients with primary biliary cirrhosis and a small control group. The object of this study has been to assess the influence of an expanded hepatic pool of copper on the incorporation of radioactive copper into caeruloplasmin. 2. Studies with 67Cu have shown that radioactivity disappears steadily from the plasma of patients with Wilson's disease for periods up to 296 h. Both in patients with primary biliary cirrhosis and in controls, a well-marked secondary rise occurs as radioactive copper is incorporated into caeruloplasmin. 3. Caeruloplasmin has been isolated from the serum of one control subject, one patient with primary biliary cirrhosis and one with Wilson's disease. Of the plasma radioactivity 90% was present in the caeruloplasmin of the control subject and the patient with primary biliary cirrhosis; only 27% was found in the caeruloplasmin of the patient with Wilson's disease. 4. Turnover time for liver copper has been determined; in the control subjects it was of the order of 20–30 days, in the patients with primary biliary cirrhosis it was between 600 and 700 days, in Wilson's disease the time exceeded 1800 days. In all cases the turnover time for radioactive copper was significantly less. 5. We conclude (a) that newly arrived radioactive copper is preferentially handled in the presence of copper overload and (b) dilution of radioactive copper in an expanded hepatic pool of the metal cannot alone account for the delayed incorporation found in patients with Wilson's disease.

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